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
CD163	9332	broad.mit.edu	37	12	7636240	7636240	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:7636240G>A	ENST00000359156.4	-	12	3013	c.2811C>T	c.(2809-2811)tcC>tcT	p.S937S	CD163_ENST00000396620.3_Silent_p.S970S|CD163_ENST00000432237.2_Silent_p.S937S|CD163_ENST00000541972.1_Silent_p.S925S|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	937	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						GTCCAGAACAGGAAGTGGGTC	0.468000													14	18					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716776	13716776	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:13716776G>A	ENST00000279593.3	-	13	3605	c.3396C>T	c.(3394-3396)ttC>ttT	p.F1132F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1132					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)	GGTCCAGGTAGAAGTCCCGTA	0.592000													31	36					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853681	122853681	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:122853681C>T	ENST00000264811.5	-	1	931	c.513G>A	c.(511-513)caG>caA	p.Q171Q	TRPC3_ENST00000513531.1_Silent_p.Q171Q|TRPC3_ENST00000379645.3_Silent_p.Q244Q	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	159					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTCGTATTTCTGGCAGTGCG	0.612000													30	31					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939505	40939505	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:40939505G>A	ENST00000246914.5	+	7	1707	c.1686G>A	c.(1684-1686)gaG>gaA	p.E562E	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	562			E -> K (in PHAII).		intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGAGCCAGAGGCAGACCAGC	0.612000													70	79					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46669719	46669719	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:46669719C>T	ENST00000239151.5	-	2	940	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	221						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GCGCCGTCGCCGGGTCAGGTA	0.607000													49	75					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576330	4576330	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:4576330G>A	ENST00000269230.7	-	18	1917	c.1692_splice	c.e18+1	p.P564_splice	PELP1_ENST00000436683.2_Silent_p.P505P|PELP1_ENST00000301396.4_Silent_p.P796P|PELP1_ENST00000574876.1_Silent_p.P652P|PELP1_ENST00000572293.1_Silent_p.P702P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	601					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCTCAGGAGGGGGAACTGGAG	0.687000													25	31					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881796	69881796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:69881796G>A	ENST00000358913.5	+	2	1089	c.601G>A	c.(601-603)Gat>Aat	p.D201N	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.D201N|MYPN_ENST00000373675.3_Missense_Mutation_p.D201N	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	201	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAGTTTCTCAGATCTGTCAGA	0.463000													17	5					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855876	31855876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:31855876G>A	ENST00000395728.3	-	12	1857	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	EHMT2_ENST00000375528.4_Missense_Mutation_p.P586S|EHMT2_ENST00000375530.4_Missense_Mutation_p.P529S|EHMT2_ENST00000375537.4_Missense_Mutation_p.P563S|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	563					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGGTGCAGGAGCTGCAGTG	0.652000													6	18					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56165323	56165323	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:56165323C>T	ENST00000361673.3	-	12	6467	c.6254G>A	c.(6253-6255)gGa>gAa	p.G2085E		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2085	Alpha-type protein kinase.						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						TAGCTTCATTCCTACACCTAC	0.493000													35	43					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220423044	220423044	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:220423044C>T	ENST00000404537.1	-	10	3420	c.3364G>A	c.(3364-3366)Gag>Aag	p.E1122K	OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.E1122K|OBSL1_ENST00000603926.1_Missense_Mutation_p.E1122K|OBSL1_ENST00000265317.5_Missense_Mutation_p.E113K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1122	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTGATGCCTCCACTTCCAGC	0.682000													6	17					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61290703	61290703	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:61290703C>T	ENST00000263846.4	-	8	1278	c.951G>A	c.(949-951)gtG>gtA	p.V317V	SYT7_ENST00000542836.1_Silent_p.V361V|SYT7_ENST00000542670.1_Silent_p.V525V|SYT7_ENST00000540677.1_Silent_p.V392V|SYT7_ENST00000539008.1_Silent_p.V600V|SYT7_ENST00000535826.1_Silent_p.V436V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	317	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTTCTTCTCCACCCGCTTGT	0.562000													30	39					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747588	94747588	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:94747588G>A	ENST00000399300.2	-	3	1264	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R351C	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	351	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGAACTGGACGATATTGTAAA	0.358000													21	28					0	0	1	0	0
LY6D	8581	broad.mit.edu	37	8	143866648	143866648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:143866648G>A	ENST00000301263.4	-	3	451	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	126					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACAGGCTGGGGGCTAAGATG	0.662000													5	19					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74487084	74487084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:74487084C>T	ENST00000422840.2	-	26	3520	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q	GLG1_ENST00000205061.5_Missense_Mutation_p.R1174Q|GLG1_ENST00000447066.2_Missense_Mutation_p.R1163Q	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1174						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTTGAGCTCTCGTGTCACTCG	0.502000													37	51					0	0	1	0	0
TPMT	7172	broad.mit.edu	37	6	18139929	18139929	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:18139929G>A	ENST00000309983.4	-	5	471	c.386C>T	c.(385-387)tCa>tTa	p.S129L		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	129					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	ACAGTACAATGAAATGTTCCC	0.353000													33	21					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99693081	99693081	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:99693081G>A	ENST00000303887.5	-	12	2253	c.1608C>T	c.(1606-1608)caC>caT	p.H536H	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Silent_p.H360H	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	536	Interaction with RAD17.|MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CATAGGTGATGTGCTGGGCCA	0.577000													7	37					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137528294	137528294	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:137528294C>T	ENST00000394886.2	-	10	1095	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	355					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCAGGGCTCTCTGGAAATATA	0.373000													26	38					0	0	1	0	0
SPATA32	124783	broad.mit.edu	37	17	43333087	43333087	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:43333087G>A	ENST00000543122.1	-	6	1180	c.399C>T	c.(397-399)tcC>tcT	p.S133S	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|SPATA32_ENST00000331780.4_Silent_p.S154S|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA					spermatogenesis associated 32																		AGAGGTGCTTGGAGGTCTGCG	0.582000													32	48					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006333	94006333	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:94006333C>T	ENST00000282020.4	+	3	690	c.432C>T	c.(430-432)ctC>ctT	p.L144L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	144					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTACACTCTCTCAGTTCGCC	0.488000													39	46					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249494	140249494	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:140249494G>A	ENST00000398640.2	+	1	806	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACAGACCGAGACGAAGGA	0.388000													11	7					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21862493	21862493	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:21862493G>A	ENST00000399982.2	-	30	5606	c.5542C>T	c.(5542-5544)Cat>Tat	p.H1848Y	CHD8_ENST00000430710.3_Missense_Mutation_p.H1569Y|CHD8_ENST00000557364.1_Missense_Mutation_p.H1848Y	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1848					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACAAAGCCATGGAAGTACTTG	0.512000													24	28					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34500828	34500828	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:34500828C>T	ENST00000242317.4	+	11	1181	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	337					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCCGTCACTGCCCTCTGCTGG	0.547000									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	17					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645810	20645810	+	RNA	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:20645810G>A	ENST00000428453.1	-	0	2955																				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						AGGGAGCTGAGGGTGCCGCAC	0.627000													8	34					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864826	22864826	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:22864826C>T	ENST00000251822.6	+	5	1605	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	RHOBTB2_ENST00000522948.1_Silent_p.G363G|RHOBTB2_ENST00000519685.1_Silent_p.G378G|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	356	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGCTGGGGGCTCCGGTCCTG	0.637000													37	52					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757739	757739	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:757739C>T	ENST00000215582.6	+	2	896	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GCGTGCTGTGCCCACCTGGGC	0.647000													18	25					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92592355	92592355	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:92592355G>A	ENST00000298047.6	+	20	11542	c.11525G>A	c.(11524-11526)gGa>gAa	p.G3842E	FAT3_ENST00000409404.2_Missense_Mutation_p.G3842E|FAT3_ENST00000525166.1_Missense_Mutation_p.G3692E|FAT3_ENST00000533797.1_Missense_Mutation_p.G177E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3842	Laminin G-like.				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)				AGCTTTGCTGGAAACAGTTAC	0.388000										TCGA Ovarian(4;0.039)			12	29					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25745418	25745418	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:25745418G>A	ENST00000520164.1	-	9	1359	c.822C>T	c.(820-822)atC>atT	p.I274I	EBF2_ENST00000408929.3_Silent_p.I126I|EBF2_ENST00000535548.1_Silent_p.I5I	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	274	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGTCCCCGATGATGATGA	0.498000													23	37					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1426855	1426855	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:1426855G>A	ENST00000345913.4	+	3	224	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	TPO_ENST00000337415.3_Missense_Mutation_p.E45K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.E45K|TPO_ENST00000382198.1_Missense_Mutation_p.E45K|TPO_ENST00000382201.3_Missense_Mutation_p.E45K|TPO_ENST00000539820.1_Missense_Mutation_p.E45K|TPO_ENST00000346956.3_Missense_Mutation_p.E45K|TPO_ENST00000349624.3_Missense_Mutation_p.E45K|TPO_ENST00000329066.4_Missense_Mutation_p.E45K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	45					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGTCTTGGAGGAAAGCAAGCG	0.587000													16	24					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099905	27099905	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:27099905C>T	ENST00000324856.7	+	15	4155	c.3784C>T	c.(3784-3786)Cgt>Tgt	p.R1262C	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								28	31					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68707496	68707496	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:68707496G>A	ENST00000303145.7	-	10	1623	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F	MDM1_ENST00000411698.2_Missense_Mutation_p.L478F|MDM1_ENST00000540418.1_Missense_Mutation_p.L233F	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	513						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GGAGTAGGAAGCCGGCCTCCT	0.408000													29	31					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950260	7950260	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:7950260G>A	ENST00000380183.4	+	10	1462	c.1323G>A	c.(1321-1323)ttG>ttA	p.L441L	ALOX15B_ENST00000573359.1_Silent_p.L412L|ALOX15B_ENST00000572022.1_Silent_p.L441L|ALOX15B_ENST00000380173.2_Silent_p.L412L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	441	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCTCTGAGTTGATACAGAGGA	0.532000													37	29					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33923424	33923424	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:33923424G>A	ENST00000379238.1	-	25	2966	c.2849C>T	c.(2848-2850)cCt>cTt	p.P950L	UBAP2_ENST00000539807.1_Missense_Mutation_p.P705L|UBAP2_ENST00000379239.4_Missense_Mutation_p.P683L|UBAP2_ENST00000379235.1_Missense_Mutation_p.P189L|UBAP2_ENST00000449054.1_Missense_Mutation_p.P950L|UBAP2_ENST00000360802.1_Missense_Mutation_p.P950L			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	950										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGGAAGGGAGGTGTGGGAGT	0.587000													123	195					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392243	3392243	+	Silent	SNP	C	C	T	rs147425056		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:3392243C>T	ENST00000324266.5	+	2	1044	c.849C>T	c.(847-849)atC>atT	p.I283I	TRAPPC12_ENST00000382110.2_Silent_p.I283I	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	283							binding										TCGCGCACATCCAGGCAGTGT	0.716000													18	10					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420781	54420781	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:54420781G>A	ENST00000474759.1	+	4	409	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E27K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E121K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E121K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	121						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)		CCTGAAACATGAATTTGATGC	0.393000													3	9					0	0	1	0	0
MROH6	642475	broad.mit.edu	37	8	144650333	144650333	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:144650333C>T	ENST00000398882.3	-	11	1999	c.1743G>A	c.(1741-1743)ctG>ctA	p.L581L	MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000524906.1_5'UTR	NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		AGAGGTGGCTCAGGGCCTCGG	0.652000													6	10					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10603436	10603436	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:10603436C>T	ENST00000547195.1	-	18	2565	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000531107.1_Missense_Mutation_p.E772K|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000527509.2_Missense_Mutation_p.E689K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E771K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E689K|MRVI1_ENST00000534266.2_Missense_Mutation_p.E465K|MRVI1_ENST00000423302.2_Missense_Mutation_p.E780K|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.E574K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E753K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E465K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E465K|MRVI1_ENST00000545852.1_Missense_Mutation_p.E465K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	753					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)		GCTTCTTCCTCCATCCTGGCC	0.557000													29	45					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27889630	27889630	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:27889630G>A	ENST00000307201.4	-	2	1526	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	452						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTTGGAAGAGGAAGAGACTT	0.557000													34	71					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133827	31133827	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:31133827G>A	ENST00000349752.5	-	15	2238	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	GALNT14_ENST00000324589.5_Silent_p.I538I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Silent_p.I498I|GALNT14_ENST00000406653.1_Silent_p.I513I|GALNT14_ENST00000356174.3_Silent_p.I500I	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													25	29					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863101	5863101	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:5863101G>A	ENST00000329322.5	-	1	26	c.27C>T	c.(25-27)ttC>ttT	p.F9F	OR52E6_ENST00000379946.2_Silent_p.F13F|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAAGTATGGAACTGGGTGT	0.423000													21	34					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46762942	46762942	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:46762942C>T	ENST00000262738.3	-	29	8152	c.8153G>A	c.(8152-8154)gGg>gAg	p.G2718E		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2718					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCTTCCTCCCGCCGAGCAC	0.697000											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	12					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196709832	196709832	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:196709832C>G	ENST00000312428.6	-	47	8939	c.8839G>C	c.(8839-8841)Gat>Cat	p.D2947H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2947					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						AGAGAGCAATCATCTGAGCAG	0.398000													8	22					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742899	42742899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:42742899G>A	ENST00000263805.4	-	2	1828	c.1502C>T	c.(1501-1503)cCt>cTt	p.P501L	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		GGATATGTAAGGACCATGGTT	0.363000													68	90					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688687	3688687	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:3688687G>A	ENST00000250699.2	-	4	741	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	CHRNA10_ENST00000534359.1_Silent_p.T41T	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	224					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GTGACGTCGGGGTAGGGCTCG	0.721000													11	20					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430364	10430364	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:10430364G>A	ENST00000245503.5	-	29	4265	c.3881C>T	c.(3880-3882)tCa>tTa	p.S1294L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1294L|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1294					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						AAGCTGGCGTGAAAACTCACC	0.388000													26	15					0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43317029	43317029	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:43317029C>T	ENST00000372504.1	+	5	816	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	ZNF691_ENST00000372506.1_Missense_Mutation_p.H134Y|ZNF691_ENST00000372508.3_Missense_Mutation_p.H134Y|ZNF691_ENST00000397044.3_Missense_Mutation_p.H165Y|ZNF691_ENST00000372502.1_Missense_Mutation_p.H156Y|ZNF691_ENST00000372507.1_Missense_Mutation_p.H134Y			Q5VV52	ZN691_HUMAN	zinc finger protein 691	165						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGAGCGGATCCACCTGGAAGA	0.572000													19	21					0	0	1	0	0
PIM3	415116	broad.mit.edu	37	22	50354965	50354965	+	Splice_Site	SNP	G	G	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:50354965G>T	ENST00000360612.4	+	3	630		c.e3-1			NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene						cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCTCCGCAGGTGGCTGTGA	0.771000													7	20					0.361761	0.361761	1	1	0
ETNK2	55224	broad.mit.edu	37	1	204115774	204115774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:204115774G>A	ENST00000367202.4	-	3	787	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	ETNK2_ENST00000367201.3_Missense_Mutation_p.P213S|ETNK2_ENST00000367198.2_Missense_Mutation_p.P35S|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	213							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTACCTGGGGTTGATCTCG	0.522000													44	98					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413262	24413262	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:24413262G>A	ENST00000330966.7	-	15	1835	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F	MYOM3_ENST00000329601.7_Missense_Mutation_p.S557F|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.S557F|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	557	Fibronectin type-III 2.									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)		GAATCTCGGGGATCTCACAGG	0.557000													26	45					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43279754	43279754	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:43279754G>A	ENST00000422911.1	-	3	290	c.189C>T	c.(187-189)ccC>ccT	p.P63P	PRDM15_ENST00000538201.1_Silent_p.P26P|PRDM15_ENST00000398548.1_Silent_p.P63P|PRDM15_ENST00000269844.3_Silent_p.P326P|PRDM15_ENST00000447207.2_Silent_p.P26P			P57071	PRD15_HUMAN	PR domain containing 15	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGCCCAGCTCGGGACATTCGG	0.582000													12	26					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020726	90020726	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:90020726G>A	ENST00000405460.2	+	46	9922	c.9826G>A	c.(9826-9828)Gaa>Aaa	p.E3276K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3276					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E3276K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTACTTTGGAAAATTTAAT	0.328000													20	34					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111625	142111625	+	RNA	SNP	G	G	T	rs143168323	by1000genomes	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:142111625G>T	ENST00000390378.1	-	0	110																											TCAGAGTCACGTGCTGTCCTC	0.532000													4	254					4.68919e-08	4.72268e-08	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1963158	1963158	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:1963158G>A	ENST00000382722.5	-	23	2567	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	CACNA2D4_ENST00000588077.1_Silent_p.P671P|CACNA2D4_ENST00000587995.1_Silent_p.P710P|CACNA2D4_ENST00000586184.1_Silent_p.P735P|CACNA2D4_ENST00000585708.1_Silent_p.P671P|CACNA2D4_ENST00000585732.1_Silent_p.P596P|CACNA2D4_ENST00000539048.2_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	735						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P735P(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCTTCCATGGGGGCTGTCA	0.612000													10	20					0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77896063	77896063	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:77896063C>T	ENST00000419564.2	-	4	816	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	PEX2_ENST00000522527.1_Missense_Mutation_p.E118K|PEX2_ENST00000357039.4_Missense_Mutation_p.E118K|PEX2_ENST00000520103.1_Missense_Mutation_p.E118K	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	118					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TAGCATCGTTCTTCTAACCAC	0.378000													28	21					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3741981	3741981	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:3741981C>T	ENST00000324932.7	-	17	2641	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R	NUP98_ENST00000397004.4_Missense_Mutation_p.G741R|NUP98_ENST00000359171.4_Missense_Mutation_p.G741R|NUP98_ENST00000397007.4_Missense_Mutation_p.G758R|NUP98_ENST00000355260.3_Missense_Mutation_p.G741R	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	758	Peptidase S59.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATGCACTCTCCTTTTTCATTG	0.333000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								14	24					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101844394	101844394	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:101844394G>A	ENST00000251127.6	-	14	1719	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.S546S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	546						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)					TCTGGAACATGGACATAAATG	0.428000													11	12					0	0	1	0	0
ARFRP1	10139	broad.mit.edu	37	20	62333528	62333528	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:62333528G>A	ENST00000359715.4	-	4	872	c.306C>T	c.(304-306)tcC>tcT	p.S102S	ARFRP1_ENST00000324228.2_Silent_p.S102S|ARFRP1_ENST00000440854.1_Silent_p.S102S			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	102					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCTCGTCGGTGGAGTCAATGA	0.627000													20	31					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	29					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18378061	18378061	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:18378061G>A	ENST00000441493.2	-	10	1790	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	MICAL3_ENST00000429452.1_Missense_Mutation_p.R480W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R480W|MICAL3_ENST00000383094.3_Missense_Mutation_p.R480W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R480W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R480W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R480W|MICAL3_ENST00000444520.1_Missense_Mutation_p.R480W	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	480						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGCTTGGCCGGAGGAAGTTG	0.483000													8	15					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611602	19611602	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:19611602A>T	ENST00000361640.4	-	4	1054	c.514T>A	c.(514-516)Tac>Aac	p.Y172N		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	172					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGCATTGTACATGCCCTGT	0.537000													24	27					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058231	114058231	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:114058231G>A	ENST00000462705.1	-	12	2449	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	ZBTB20_ENST00000393785.2_Missense_Mutation_p.S543F|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S543F|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S543F|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S616F|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S543F|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S543F	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	616				S -> F (in Ref. 5; AAH29041).	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)		ATCCTTTAAGGAGAAGGAGCG	0.512000													34	6					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73686708	73686708	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:73686708G>A	ENST00000310473.3	-	7	1485	c.643C>T	c.(643-645)Cct>Tct	p.P215S	UCP2_ENST00000536983.1_Intron	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	215					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					AAGTGGCAAGGGAGGTCATCT	0.522000													27	35					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152207	72152207	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:72152207C>T	ENST00000555818.1	+	10	3581	c.3233C>T	c.(3232-3234)tCa>tTa	p.S1078L	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S553L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1078L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1078L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1078					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGCCTCATTCACCTCAAGTC	0.507000													17	22					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407222	50407222	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:50407222G>A	ENST00000217086.4	-	2	1911	c.1800C>T	c.(1798-1800)ggC>ggT	p.G600G	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	600					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAAGGCTCGGCCACAGATCT	0.517000													29	26					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052848	43052848	+	Silent	SNP	C	C	T	rs142268325		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:43052848C>T	ENST00000316099.3	+	8	1172	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	HNF4A_ENST00000443598.2_Silent_p.F361F|HNF4A_ENST00000457232.1_Silent_p.F339F|HNF4A_ENST00000415691.1_Silent_p.F361F	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	361					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCAAGCTCTTCGGCATGGCCA	0.607000													11	18					0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342395	29342395	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:29342395G>A	ENST00000396806.3	-	1	673	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TTCTTAAACAGAAGGAAGCCA	0.448000													22	60					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807596	143807596	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:143807596G>A	ENST00000408979.2	+	1	990	c.921G>A	c.(919-921)aaG>aaA	p.K307K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCCAGAGGAAGAGGTCCATGA	0.428000													36	203					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454983	187454983	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:187454983C>T	ENST00000307161.5	-	2	1114	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	305					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CTCCTGTATTCCTTCCTGAAA	0.473000													61	79					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55512301	55512301	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:55512301G>A	ENST00000302118.5	+	3	795	c.505G>A	c.(505-507)Gat>Aat	p.D169N	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.D169N	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	169	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTACCGGGCGGATGAATACCA	0.622000													11	21					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215527	46215527	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:46215527G>A	ENST00000317683.3	-	2	1360	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	409							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TCTGGAGAAAGAAGAGCTGGC	0.701000													16	23					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121437400	121437400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:121437400C>T	ENST00000257555.6	+	9	1964	c.1738C>T	c.(1738-1740)Ccg>Tcg	p.P580S	HNF1A_ENST00000544413.1_Missense_Mutation_p.P587S|HNF1A_ENST00000541395.1_Missense_Mutation_p.P611S			P20823	HNF1A_HUMAN	HNF1 homeobox A	580					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCACCTGCAGCCGGCCCACCG	0.692000									Hepatic Adenoma, Familial Clustering of				10	27					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978344	247978344	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:247978344C>T	ENST00000357627.1	-	1	687	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACTGGCCTTCTGTGGAAGGG	0.408000													22	55					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890661	22890661	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:22890661C>T	ENST00000543184.1	-	5	2220	c.1358G>A	c.(1357-1359)gGt>gAt	p.G453D	PRAME_ENST00000402697.1_Missense_Mutation_p.G453D|PRAME_ENST00000398743.2_Missense_Mutation_p.G453D|PRAME_ENST00000424204.2_Missense_Mutation_p.G437D|PRAME_ENST00000539862.1_Missense_Mutation_p.G437D|PRAME_ENST00000398741.1_Missense_Mutation_p.G453D|PRAME_ENST00000405655.3_Missense_Mutation_p.G453D	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	453	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.G453V(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GTGGAGGGTACCATGGATGTC	0.587000													34	42					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041375	42041375	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:42041375C>T	ENST00000219905.7	+	17	5751	c.5570C>T	c.(5569-5571)tCg>tTg	p.S1857L	MGA_ENST00000545763.1_Missense_Mutation_p.S1648L|MGA_ENST00000570161.1_Missense_Mutation_p.S1857L|MGA_ENST00000566586.1_Missense_Mutation_p.S1648L|MGA_ENST00000389936.4_Missense_Mutation_p.S1818L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1818						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCTTCCACTTCGTCCTCTGCT	0.443000													45	55					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1544511	1544511	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:1544511C>T	ENST00000534940.1	-	8	1018	c.793G>A	c.(793-795)Gat>Aat	p.D265N	ASMTL_ENST00000416733.2_Missense_Mutation_p.D247N|ASMTL_ENST00000381333.4_Missense_Mutation_p.D307N|ASMTL_ENST00000381317.3_Missense_Mutation_p.D323N	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	323					melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGCAATATCCGCAGCCTTC	0.522000													9	13					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701726	8701726	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:8701726G>A	ENST00000329805.4	-	1	941	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	238						integral to membrane		p.S238L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CGCCTCCAAGGACAGGTCAAA	0.612000													38	39					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154237647	154237647	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:154237647G>A	ENST00000404039.1	+	4	883	c.296G>A	c.(295-297)gGa>gAa	p.G99E	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.G101E|DPP6_ENST00000377770.3_Missense_Mutation_p.G163E|DPP6_ENST00000427557.1_Missense_Mutation_p.G101E|DPP6_ENST00000406326.1_Missense_Mutation_p.G163E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	163					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAACAGAAAGGAACAGTGAGA	0.353000													6	35					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117185686	117185686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:117185686C>T	ENST00000362057.3	-	7	1702	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R	DFNB31_ENST00000374059.3_Missense_Mutation_p.G161R|DFNB31_ENST00000265134.6_Missense_Mutation_p.G129R	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	512					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCAGCCCCGGGGCCTGGG	0.642000													45	64					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111947816	111947816	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:111947816C>T	ENST00000374566.3	-	23	2888	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	791						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGGTCTCTTCCTTCATGGGG	0.617000													13	30					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117185685	117185685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:117185685C>T	ENST00000362057.3	-	7	1703	c.1535G>A	c.(1534-1536)gGg>gAg	p.G512E	DFNB31_ENST00000374059.3_Missense_Mutation_p.G161E|DFNB31_ENST00000265134.6_Missense_Mutation_p.G129E	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	512					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCCCCAGCCCCGGGGCCTGG	0.642000													46	66					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850601	3850601	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:3850601G>A	ENST00000380274.1	+	1	982	c.556G>A	c.(556-558)Gag>Aag	p.E186K	FAM50B_ENST00000380272.3_Missense_Mutation_p.E186K			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	186						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)				CGAGGAGATGGAGGTCACCTT	0.677000													26	91					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25755615	25755615	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:25755615G>A	ENST00000376351.3	+	5	1730	c.1371G>A	c.(1369-1371)acG>acA	p.T457T		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	457						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTGGAAACGATCCTTTTTG	0.338000													13	3					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735654	140735654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:140735654C>T	ENST00000571252.1	+	1	887	c.887C>T	c.(886-888)tCt>tTt	p.S296F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTGAATTCTCTGAGTGGG	0.443000													9	23					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339370	19339370	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:19339370G>A	ENST00000252575.5	+	8	2984	c.2941G>A	c.(2941-2943)Gag>Aag	p.E981K	NCAN_ENST00000538881.1_Missense_Mutation_p.E432K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	981					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCGGGTGTAGAGAGCTTCTG	0.647000													50	61					0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96127814	96127814	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:96127814C>T	ENST00000296754.3	-	8	1527	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	ERAP1_ENST00000443439.2_Missense_Mutation_p.E424K	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	424					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GCAGGATTTTCCACAGGTGTA	0.358000													28	53					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425079	113425079	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:113425079C>T	ENST00000392583.2	+	2	621	c.414C>T	c.(412-414)atC>atT	p.I138I	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.I138I|OAS2_ENST00000449768.2_Silent_p.I138I	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	138	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCAGAGAATCTCTTTCGAGG	0.488000													29	31					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25333904	25333904	+	RNA	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:25333904C>T	ENST00000546682.1	+	0	586				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						CACTTCTTTCCCAGAGCACTC	0.473000													25	32					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107600072	107600072	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:107600072G>A	ENST00000393560.1	-	19	2684	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	LAMB1_ENST00000393561.1_Intron|LAMB1_ENST00000222399.6_Intron			P07942	LAMB1_HUMAN	laminin, beta 1	0	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAGCAATGGAACCCTGCCA	0.478000													28	11					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66063092	66063092	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:66063092G>A	ENST00000327259.4	+	2	1519	c.1375G>A	c.(1375-1377)Ggc>Agc	p.G459S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	459						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CGGAGACAGCGGCTGCCAGGG	0.682000													8	10					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056203	44056203	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:44056203G>A	ENST00000262887.5	-	9	1595	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	XRCC1_ENST00000543982.1_Missense_Mutation_p.R319W			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	350	BRCT 1.		R -> W (in a colorectal cancer sample; somatic mutation).		base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	p.R350W(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CAGTCTGGCCGATACTTGGCC	0.642000								Other BER factors					41	68					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269218	1269218	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:1269218C>T	ENST00000447027.1	+	31	11175	c.11117C>T	c.(11116-11118)aCt>aTt	p.T3706I	MUC5B_ENST00000529681.1_Missense_Mutation_p.T3703I|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3703	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACTACGACTGAGTCCACT	0.662000													89	98					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573474	56573474	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:56573474G>A	ENST00000323456.5	-	16	2153	c.2029C>T	c.(2029-2031)Cct>Tct	p.P677S	MTMR4_ENST00000579925.1_Missense_Mutation_p.P620S	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	677						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCAGAGGAGGAGGAAGACCC	0.517000													57	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058359	9058359	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:9058359C>T	ENST00000397910.4	-	3	29290	c.29087G>A	c.(29086-29088)gGa>gAa	p.G9696E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9698	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						GTGTGAAAGTCCTTGAGACAT	0.488000													19	26					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496209	41496209	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:41496209G>A	ENST00000400454.1	-	20	4086	c.3609C>T	c.(3607-3609)tcC>tcT	p.S1203S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1203	Fibronectin type-III 4.				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)				CAAAGACCATGGAGGCTGAGG	0.572000													12	116					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326774	152326774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:152326774G>A	ENST00000388718.5	-	3	3560	c.3488C>T	c.(3487-3489)tCa>tTa	p.S1163L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1163	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)			ACAGCCAGATGATTGACTGGA	0.488000													103	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441453	179441453	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:179441453C>T	ENST00000589042.1	-	325	69742	c.69518G>A	c.(69517-69519)gGa>gAa	p.G23173E	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14233E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21532E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14108E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20605E|TTN_ENST00000342175.6_Missense_Mutation_p.G14300E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21532	Fibronectin type-III 68.						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)			TACATGATATCCTGTAATTTC	0.463000													67	88					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178564851	178564851	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:178564851C>T	ENST00000251582.7	-	12	1971	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	624	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACTGCTCCTCGCGGAAGTCA	0.706000													5	2					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729866	41729866	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:41729866G>A	ENST00000242208.4	-	3	909	c.663C>T	c.(661-663)ttC>ttT	p.F221F	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.F221F|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	221					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGAGACAGGGAAGACATGCC	0.592000										TSP Lung(11;0.080)			20	26					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536420	1536420	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:1536420C>T	ENST00000440447.2	-	3	583	c.512G>A	c.(511-513)aGg>aAg	p.R171K	PTX4_ENST00000447419.2_Silent_p.E319E|PTX4_ENST00000293922.1_Silent_p.E314E			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGTCATTGTCCTCGGTGGCGT	0.672000													34	40					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64684512	64684512	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:64684512C>T	ENST00000413366.3	+	7	805	c.779C>T	c.(778-780)tCc>tTc	p.S260F		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	260	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGATCCCTTTCCTTTGGAGTT	0.463000													22	34					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688688	3688688	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:3688688G>A	ENST00000534359.1	-	4	718	c.122C>T	c.(121-123)aCc>aTc	p.T41I	CHRNA10_ENST00000250699.2_Silent_p.Y223Y			Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	368					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TGACGTCGGGGTAGGGCTCGG	0.721000													11	20					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174664	51174664	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:51174664C>T	ENST00000440970.1	-	2	1609	c.1178G>A	c.(1177-1179)gGg>gAg	p.G393E	SALL1_ENST00000251020.4_Missense_Mutation_p.G490E|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	490					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTCAGATTCCCCTTGGTGGA	0.512000													30	68					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331906	28331906	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:28331906C>T	ENST00000341901.4	+	4	1728	c.939C>T	c.(937-939)ctC>ctT	p.L313L		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	313	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TCCGCTTCCTCAAGCACGAGC	0.766000													7	3					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263570	39263570	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:39263570G>A	ENST00000280481.7	+	1	2305	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	697					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)		CCATCCTGTGGATCGCCTCCC	0.557000													33	39					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338453	103338453	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:103338453C>G	ENST00000428762.1	-	10	1149	c.990G>C	c.(988-990)caG>caC	p.Q330H	RELN_ENST00000343529.5_Missense_Mutation_p.Q330H|RELN_ENST00000424685.2_Missense_Mutation_p.Q330H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	330					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGATTTTCCTGCTTCCACT	0.453000													178	82					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18505092	18505092	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:18505092C>T	ENST00000336714.3	+	5	814	c.382C>T	c.(382-384)Cct>Tct	p.P128S	SEC23B_ENST00000377475.3_Missense_Mutation_p.P128S|SEC23B_ENST00000377465.1_Missense_Mutation_p.P128S|SEC23B_ENST00000262544.2_Missense_Mutation_p.P128S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	128					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGCTCAGTCCCCTCTGATCTT	0.428000													31	42					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139258054	139258054	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:139258054G>A	ENST00000406875.3	-	15	3310	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	HIPK2_ENST00000428878.2_Silent_p.S1045S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1072	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGTGCGGGAAGGAGTACGGAG	0.677000													156	63					0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20960316	20960316	+	Missense_Mutation	SNP	G	G	A	rs45540544		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:20960316G>A	ENST00000321556.4	+	1	369	c.275G>A	c.(274-276)tGc>tAc	p.C92Y		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	92			C -> F (in PARK6).		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTGGGGCTGCGCGGGCCCT	0.726000													9	3					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152644623	152644623	+	Missense_Mutation	SNP	G	G	A	rs149215868		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:152644623G>A	ENST00000367255.5	-	82	16508	c.15907C>T	c.(15907-15909)Cgg>Tgg	p.R5303W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R5232W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4996W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5232W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5303W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5303					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAGGCACCGATCTTGCATG	0.537000										HNSCC(10;0.0054)			21	11					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66081782	66081782	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:66081782G>A	ENST00000349533.6	+	15	2272	c.2087G>A	c.(2086-2088)gGa>gAa	p.G696E	LEPR_ENST00000371058.1_Missense_Mutation_p.G696E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.G696E|LEPR_ENST00000371060.3_Missense_Mutation_p.G696E|LEPR_ENST00000344610.8_Missense_Mutation_p.G696E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	696	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAAGATGTGGGAAATCACACG	0.398000													31	29					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451825	29451825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:29451825C>T	ENST00000389048.3	-	16	3646	c.2740G>A	c.(2740-2742)Ggg>Agg	p.G914R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	914	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTCTCCCACCCCCACTTCTTC	0.577000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				24	11					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125035755	125035755	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:125035755C>T	ENST00000522917.1	+	18	2411	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I735I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	735						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCCCGCATCGCCTCCAAAG	0.517000													45	63					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133252035	133252035	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:133252035T>C	ENST00000320574.5	-	12	1218	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	POLE_ENST00000535270.1_Missense_Mutation_p.D365G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	392					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCCCTGGCTGTCCTTCTGGAA	0.612000								DNA polymerases (catalytic subunits)					34	47					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753108	42753108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:42753108G>A	ENST00000222329.4	-	4	1313	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	ERF_ENST00000440177.2_Missense_Mutation_p.R311C|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	386					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CGCTGCCGGCGTCCGAGTGGG	0.687000													27	132					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14110524	14110524	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:14110524C>T	ENST00000261643.3	+	7	1403	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	COX10_ENST00000536205.1_Silent_p.P250P|COX10_ENST00000537334.1_Silent_p.P225P	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	442					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GGCCCCCTCCCAGCTGAGAGC	0.632000													10	15					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344193	248344193	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:248344193G>A	ENST00000359682.2	+	1	906	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			GAGCATTCATGAAGATCTTAG	0.423000													147	95					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736484	24736484	+	RNA	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:24736484G>A	ENST00000483544.1	-	0	618					NR_029451.2																						CATGCCTCTGGGGTGAAAATC	0.527000													21	22					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11398885	11398885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:11398885C>T	ENST00000227756.4	-	5	1232	c.821G>A	c.(820-822)cGg>cAg	p.R274Q		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CGAGATGATCCGCTTCCGGTT	0.532000													26	27					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570712	104570712	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:104570712C>T	ENST00000551177.1	+	8	917	c.825C>T	c.(823-825)acC>acT	p.T275T	ASPG_ENST00000546892.2_Silent_p.T275T|ASPG_ENST00000455920.2_Silent_p.T275T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	275	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						ACGGACCCACCAAGCCCGACC	0.667000													15	25					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122460008	122460008	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:122460008G>A	ENST00000264357.5	+	4	932	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	GRIA3_ENST00000371256.5_Missense_Mutation_p.E214K|GRIA3_ENST00000371251.1_Missense_Mutation_p.E214K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E214K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E198K	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	214					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAGGAGGCAGGAAAAGCGATA	0.423000													45	5					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215818782	215818782	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:215818782G>A	ENST00000272895.7	-	44	6662	c.6443C>T	c.(6442-6444)cCa>cTa	p.P2148L	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.P1830L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2148					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGAATTGTGGGAAAATCAG	0.348000													5	67					0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134364803	134364803	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:134364803G>A	ENST00000265340.7	-	3	1027	c.611C>T	c.(610-612)tCc>tTc	p.S204F	PITX1_ENST00000506438.1_Missense_Mutation_p.S204F	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	204	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGGGCTCATGGAGTTGAAGAA	0.637000													34	49					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167728728	167728728	+	Missense_Mutation	SNP	C	C	T	rs142367645	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:167728728C>T	ENST00000230256.3	+	8	1337	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	UNC93A_ENST00000366829.2_Missense_Mutation_p.R346C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	388						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGCCAATTACCGCCTGTGGGA	0.582000													74	30					0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38023375	38023375	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:38023375G>A	ENST00000445217.1	+	2	168	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	ZNF793_ENST00000587143.1_Missense_Mutation_p.V45I|ZNF793_ENST00000589319.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587986.1_Missense_Mutation_p.V45I|ZNF793_ENST00000588578.1_Missense_Mutation_p.V45I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V45I			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGCAACCTCGTCTCAGTGGG	0.507000													10	25					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449125	104449125	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:104449125G>A	ENST00000361820.3	-	2	1657	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	353					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCACCCAACGAAGTTCAGGG	0.512000													13	20					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027393	55027393	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:55027393G>A	ENST00000324000.3	+	4	3062	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	343					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GACAAAAAAGGAACCAAATTT	0.478000													16	24					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36212230	36212230	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:36212230C>T	ENST00000303965.4	-	6	1758	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	423					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTAAACTCTGAAAGCATT	0.358000													39	40					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233620964	233620964	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:233620964C>T	ENST00000373566.3	+	6	496	c.299C>T	c.(298-300)gCt>gTt	p.A100V	GIGYF2_ENST00000373563.4_Missense_Mutation_p.A100V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A100V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.A100V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A100V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A100V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	100					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AATAGTGCTGCTGTCCTGCGA	0.398000													14	18					0	0	1	0	0
PSMG3	84262	broad.mit.edu	37	7	1607478	1607478	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:1607478G>C	ENST00000288607.2	-	2	878	c.225C>G	c.(223-225)atC>atG	p.I75M	PSMG3_ENST00000252329.3_Missense_Mutation_p.I75M|PSMG3_ENST00000404674.3_Missense_Mutation_p.I75M	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	75										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		CAAAGACATGGATGAGAGGCT	0.483000													11	38					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45656192	45656192	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:45656192G>A	ENST00000396659.3	-	8	1404	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	GATM_ENST00000558336.1_Silent_p.S355S	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	355					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AAAGCCATTTGGATGACATCC	0.353000													18	31					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234238158	234238158	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:234238158C>T	ENST00000409110.1	+	9	898	c.668C>T	c.(667-669)cCc>cTc	p.P223L	SAG_ENST00000449594.2_Missense_Mutation_p.P89L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	223					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CATGGGGAGCCCATCCCTGTG	0.448000													12	12					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41533698	41533698	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:41533698C>T	ENST00000263253.7	+	8	2883	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	555					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCCTGGGTCCTATGCCAACA	0.438000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				30	32					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232082	117232082	+	Missense_Mutation	SNP	G	G	A	rs121908777		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:117232082G>A	ENST00000003084.6	+	14	1993	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	CFTR_ENST00000454343.1_Missense_Mutation_p.E560K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	621	ABC transporter 1.				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)	AATTTTGCATGAAGGTAGCAG	0.343000									Cystic Fibrosis				25	114					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379976	107379976	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:107379976C>T	ENST00000259362.1	-	1	509	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R170R(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGACATTCTTCCTGCAGAAAG	0.448000													32	43					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4623873	4623873	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:4623873C>T	ENST00000346341.2	+	13	1153	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	ARRB2_ENST00000412477.3_Intron|ARRB2_ENST00000269260.2_Intron|ARRB2_ENST00000571206.1_Intron|ARRB2_ENST00000574954.1_Intron|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000572457.1_Intron	NM_001257331.1|NM_199004.1	NP_001244260.1|NP_945355.1	P32121	ARRB2_HUMAN	arrestin, beta 2	360	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CTCTTCCCGTCCCCCCAGCCG	0.592000													18	11					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104645310	104645310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:104645310G>A	ENST00000525566.1	+	2	121	c.97G>A	c.(97-99)Gat>Aat	p.D33N	TXNRD1_ENST00000429002.2_Missense_Mutation_p.D33N	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	33					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TCTAGCTAAAGATCATCACCC	0.418000													8	19					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940769	36940769	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:36940769C>T	ENST00000454319.1	-	5	504	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	ZNF566_ENST00000392170.2_Missense_Mutation_p.E124K|ZNF566_ENST00000434377.2_Missense_Mutation_p.E123K|ZNF566_ENST00000424129.2_Missense_Mutation_p.E123K|ZNF566_ENST00000493391.1_Missense_Mutation_p.E19K	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CGATTACATTCCCAATCATCT	0.403000													75	84					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458381	12458381	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:12458381G>A	ENST00000397026.2	+	8	1315	c.932G>A	c.(931-933)gGt>gAt	p.G311D	PPARG_ENST00000397012.2_Missense_Mutation_p.G305D|PPARG_ENST00000397015.2_Missense_Mutation_p.G305D|PPARG_ENST00000397010.2_Missense_Mutation_p.G305D|PPARG_ENST00000309576.6_Missense_Mutation_p.G305D|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.G333D|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	333					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGCATTCCTGGTTTTGTAAAT	0.483000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						26	8					0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40881966	40881966	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:40881966C>T	ENST00000539317.1	+	8	753	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	267	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TCTAAAGACTCCATTCTTTCA	0.498000													50	76					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182141	57182141	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:57182141C>T	ENST00000395123.2	-	11	1311	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	SLC43A3_ENST00000533524.1_Missense_Mutation_p.G349D|SLC43A3_ENST00000529554.1_Missense_Mutation_p.G336D|SLC43A3_ENST00000395124.1_Missense_Mutation_p.G336D|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G336D	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	336					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CATGAGCAGGCCATTCCAGGG	0.547000													78	114					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49409343	49409343	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:49409343G>A	ENST00000374201.3	-	15	2184	c.1882C>T	c.(1882-1884)Ctg>Ttg	p.L628L	FRMPD2_ENST00000305531.3_Silent_p.L603L|FRMPD2_ENST00000407470.4_Silent_p.L596L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	628	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAGGTCCAGTAAGTATTTA	0.453000													41	6					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100832315	100832315	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:100832315C>T	ENST00000358544.2	+	49	9145	c.9034C>T	c.(9034-9036)Cct>Tct	p.P3012S	VPS13B_ENST00000357162.2_Missense_Mutation_p.P2987S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3012					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTACAGGTTCCTGCTGGCAA	0.348000													29	39					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385231	41385231	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:41385231G>A	ENST00000400454.1	-	33	6246	c.5769C>T	c.(5767-5769)agC>agT	p.S1923S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1923				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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)				CTTGTCCTAAGCTCAGGTCCC	0.567000													21	41					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41019620	41019620	+	RNA	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:41019620C>T	ENST00000585538.1	+	0	459					NR_002773.1																						GGCTGCAGCCCTGGCTCACTT	0.667000													28	38					0	0	1	0	0
POP7	10248	broad.mit.edu	37	7	100304533	100304533	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:100304533C>T	ENST00000303151.4	+	2	342	c.80C>T	c.(79-81)cCc>cTc	p.P27L		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	27					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAAAGGCTTCCCAGCCGCCTG	0.607000													50	147					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													4	66					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93836183	93836183	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:93836183G>A	ENST00000315765.9	+	15	2687	c.2679G>A	c.(2677-2679)gtG>gtA	p.V893V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	893	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAAACTTTGTGAAGGTAAGGT	0.373000													15	19					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502142	12502142	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:12502142C>T	ENST00000419318.1	-	4	1723	c.974G>A	c.(973-975)aGa>aAa	p.R325K	ZNF799_ENST00000430385.3_Missense_Mutation_p.R357K|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGTGTGAGTTCTTTCATGACT	0.413000													38	60					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391531	61391531	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:61391531G>C	ENST00000370501.3	+	4	1540	c.1169G>C	c.(1168-1170)aGg>aCg	p.R390T	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	390						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCGCAGGAGGAAGAGGCCA	0.642000													41	50					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5642528	5642528	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:5642528G>A	ENST00000310917.2	-	10	1674	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	EVC2_ENST00000344938.1_Silent_p.L395L|EVC2_ENST00000344408.5_Silent_p.L395L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	395						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						caagCCTCCAGATCTGCATCT	0.433000													33	40					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482746	94482746	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:94482746C>T	ENST00000377047.4	+	3	1274	c.659C>T	c.(658-660)aCc>aTc	p.T220I	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	220						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)				GCTGCCAGGACCTTTGTCCAG	0.488000													19	23					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568863	49568863	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:49568863C>T	ENST00000545947.1	+	6	1641	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	DAG1_ENST00000538711.1_Missense_Mutation_p.P307S|DAG1_ENST00000541308.1_Missense_Mutation_p.P307S|DAG1_ENST00000539901.1_Missense_Mutation_p.P307S|DAG1_ENST00000515359.2_Missense_Mutation_p.P307S|DAG1_ENST00000308775.2_Missense_Mutation_p.P307S	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	307	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCCCCCTCTTCCCAAACGCGT	0.617000													35	51					0	0	1	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092031	139092031	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:139092031G>A	ENST00000354926.4	+	6	976	c.622G>A	c.(622-624)Gat>Aat	p.D208N	LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274N|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205N|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207N	NM_016019.3	NP_057103.2												p.D208N(1)									ACGACTGGCTGATCATTTTGG	0.398000													86	21					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725520	38725520	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:38725520C>T	ENST00000409072.3	-	2	1020	c.86G>A	c.(85-87)cGa>cAa	p.R29Q						family with sequence similarity 183, member B									p.R29Q(4)		endometrium(1)|lung(7)	8						TTTCTGGGTTCGTAACTCTTT	0.542000													31	47					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58196065	58196065	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:58196065G>T	ENST00000537081.1	-	16	2007	c.2008C>A	c.(2008-2010)Cag>Aag	p.Q670K	TSFM_ENST00000550559.1_Intron|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.Q677K			O75366	AVIL_HUMAN	advillin	677	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGCAGGTACTGCTGTGCTGTG	0.537000													9	8					1.58986e-06	1.59363e-06	1	1	0
IGHV1-24	28467	broad.mit.edu	37	14	106733339	106733339	+	RNA	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:106733339G>A	ENST00000390610.2	-	0	215																											CCCAGTGCATGGATAATTCAG	0.547000													77	229					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135863856	135863856	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:135863856G>A	ENST00000339463.3	+	8	1329		c.e8+1		GFI1B_ENST00000372123.1_Splice_Site|GFI1B_ENST00000534944.1_Splice_Site|GFI1B_ENST00000372122.1_Splice_Site|GFI1B_ENST00000372124.1_Splice_Site|GFI1B_ENST00000450530.1_Splice_Site			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor						cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GTGCAACAAGGTGGGCAGCGG	0.632000													11	18					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98823975	98823975	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:98823975G>A	ENST00000266058.4	-	7	824	c.579C>T	c.(577-579)atC>atT	p.I193I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I193I|SLIT1_ENST00000371070.4_Silent_p.I193I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	193					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGATGGTGGTGATATTGTTGT	0.572000													11	2					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62371063	62371063	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:62371063G>A	ENST00000519846.1	+	6	1411	c.939G>A	c.(937-939)tcG>tcA	p.S313S	CLVS1_ENST00000518592.1_Silent_p.S34S|CLVS1_ENST00000325897.4_Silent_p.S313S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	313					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATACGTCCTCGAATCTGGAGA	0.493000													13	13					0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55858523	55858523	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:55858523C>T	ENST00000255613.3	+	9	1343	c.1095C>T	c.(1093-1095)caC>caT	p.H365H		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	365	Required for heterochromatin localization (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTGGCCCCCACTGCCGCCTGC	0.781000													3	0					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48491531	48491531	+	Silent	SNP	C	C	T	rs150341628	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:48491531C>T	ENST00000412052.1	+	2	519	c.57C>T	c.(55-57)ttC>ttT	p.F19F	ATRIP_ENST00000320211.3_Silent_p.F112F|ATRIP_ENST00000346691.4_Silent_p.F112F|ATRIP_ENST00000357105.6_5'UTR	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	112					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGATAATTTCGAATTAGAGG	0.318000								Other conserved DNA damage response genes					45	11					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896912	175896912	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:175896912C>T	ENST00000359240.3	+	5	906	c.236C>T	c.(235-237)cCt>cTt	p.P79L	ADAM29_ENST00000514159.1_Missense_Mutation_p.P79L|ADAM29_ENST00000404450.4_Missense_Mutation_p.P79L|ADAM29_ENST00000445694.1_Missense_Mutation_p.P79L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	79					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAACACCTCCCTGTGTTCACC	0.483000													20	18					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37203746	37203746	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:37203746C>T	ENST00000585696.1	+	2	1337	c.107C>T	c.(106-108)tCa>tTa	p.S36L	ZNF567_ENST00000392163.2_Missense_Mutation_p.S36L|ZNF567_ENST00000588311.1_Missense_Mutation_p.S36L|ZNF567_ENST00000536254.2_Missense_Mutation_p.S67L|ZNF567_ENST00000360729.4_Missense_Mutation_p.S36L			Q8N184	ZN567_HUMAN	zinc finger protein 567	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCATGGACATCATTTGCAGGT	0.443000													8	22					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155295184	155295184	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:155295184C>T	ENST00000392825.3	+	12	2043	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.I492I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	492	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GACCTGTAATCATGTTAAAAT	0.343000													32	33					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79386016	79386016	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:79386016G>A	ENST00000370742.3	-	10	1376	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	438					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACAAATCAGTGAAATAATTAT	0.303000													43	31					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280808	105280808	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:105280808G>A	ENST00000327674.4	-	1	577	c.242C>T	c.(241-243)tCc>tTc	p.S81F	SERPINA7_ENST00000372563.1_Missense_Mutation_p.S81F			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	81					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGCCCCAAAGGAAAGCATAAC	0.498000													25	4					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960899	106960899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:106960899G>A	ENST00000369701.3	+	16	2376	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	SORCS3_ENST00000369699.4_Missense_Mutation_p.E3K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	717						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTCATGGGAGAAAGGAAAAT	0.458000													13	2					0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77768504	77768504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:77768504G>A	ENST00000269385.4	-	5	1217	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	367					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAAGTTTGAGGTCACGTCCGT	0.542000													60	70					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:123742403G>A	ENST00000223642.1	-	28	3645	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1206					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.408000													22	33					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40339314	40339314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:40339314G>A	ENST00000310169.2	+	3	437	c.298G>A	c.(298-300)Gat>Aat	p.D100N	CHRNA9_ENST00000502377.1_3'UTR	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	100					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGATCAGTACGATGGCCTAGA	0.483000													18	21					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													3	38					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298168	62298168	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:62298168G>A	ENST00000378024.4	-	5	3995	c.3721C>T	c.(3721-3723)Cca>Tca	p.P1241S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1241					nervous system development	nucleus	protein binding	p.P1241T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCTGGGGCATCAATG	0.493000													119	191					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21802475	21802475	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:21802475G>A	ENST00000382254.1	-	10	2143	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	CDH12_ENST00000522262.1_Missense_Mutation_p.L313F|CDH12_ENST00000504376.2_Missense_Mutation_p.L353F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCAAGGTGAAGGTTGGAAGCC	0.438000										HNSCC(59;0.17)			17	31					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90450000	90450000	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:90450000G>A	ENST00000369393.3	-	32	4661	c.4546C>T	c.(4546-4548)Cgt>Tgt	p.R1516C	MDN1_ENST00000428876.1_Missense_Mutation_p.R1516C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1516					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.R1516C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTAGAATACGAAATTTTTTC	0.408000													21	7					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727100	181727100	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:181727100C>T	ENST00000526775.1	+	30	4455	c.4290C>T	c.(4288-4290)ttC>ttT	p.F1430F	CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000367573.2_Silent_p.F1449F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1449					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1449F(1)		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						GCATCGACTTCGCCATCAGCG	0.522000													77	52					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18062612	18062612	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:18062612C>T	ENST00000205890.5	+	54	9518	c.9180C>T	c.(9178-9180)atC>atT	p.I3060I	MYO15A_ENST00000418233.3_Silent_p.I324I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3060	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AATCCCTCATCGAACTCAGCG	0.592000													16	23					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776432	38776432	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:38776432G>A	ENST00000308973.4	-	4	1385	c.780C>T	c.(778-780)ttC>ttT	p.F260F	TLR10_ENST00000508334.1_Silent_p.F260F|TLR10_ENST00000506111.1_Silent_p.F260F|TLR10_ENST00000361424.2_Silent_p.F260F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	260					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTAAGATAAGGAAAAGGTCGT	0.343000													14	21					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50870760	50870760	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:50870760G>A	ENST00000395562.2	+	15	2132	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	CHAT_ENST00000455728.2_Missense_Mutation_p.E519K|CHAT_ENST00000337653.2_Missense_Mutation_p.E637K|CHAT_ENST00000395559.2_Missense_Mutation_p.E519K|CHAT_ENST00000339797.1_Missense_Mutation_p.E519K|CHAT_ENST00000351556.3_Missense_Mutation_p.E519K	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	637					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CATGTGCAAGGAGCTGCCCGA	0.577000													55	7					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241722490	241722490	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:241722490C>T	ENST00000498729.2	-	9	1081	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	KIF1A_ENST00000320389.7_Missense_Mutation_p.G279S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	279	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATGACCTTGCCCAGGGTGGTC	0.652000													36	47					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396604	38396604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:38396604G>A	ENST00000377698.3	+	2	1012	c.859G>A	c.(859-861)Ggt>Agt	p.G287S		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	287					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCTGGAGCTGGGTGGTAAGAG	0.592000													26	34					0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776621	159776621	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:159776621G>A	ENST00000393975.3	-	3	550	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	138	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGGCCTGGGAGGCCTGGC	0.657000													47	75					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793294	242793294	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:242793294G>A	ENST00000334409.5	-	5	852	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	261					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		TGCGGGCGGGGGATGAGGTGC	0.662000													20	34					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849580	57849580	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:57849580G>A	ENST00000266646.2	+	1	477	c.261G>A	c.(259-261)ggG>ggA	p.G87G	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	87					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TGGCTCCAGGGAATGGGGAGG	0.602000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	19					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032387	55032387	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:55032387C>T	ENST00000417545.2	+	2	142	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	3						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACATGAATTCTGGAATCTCG	0.463000													118	119					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111679871	111679871	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:111679871G>A	ENST00000374647.5	-	9	1127	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	274					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTCCATGAAGGAGTCCATTT	0.408000													26	36					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80732954	80732954	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:80732954C>T	ENST00000458043.2	+	42	4939	c.4933C>T	c.(4933-4935)Cta>Tta	p.L1645L	OTOGL_ENST00000547103.1_Silent_p.L1633L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCCAGCTGGACTAATCATAAA	0.423000													63	74					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825562	21825562	+	RNA	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:21825562G>A	ENST00000426869.3	+	0	266					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		aggcctgcccggagggtgttc	0.632000													40	43					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616785	248616785	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:248616785G>A	ENST00000342927.3	+	1	709	c.687G>A	c.(685-687)atG>atA	p.M229I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	229					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)			TCCACAGGATGAACTCTGCTG	0.547000													21	47					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27421956	27421956	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:27421956C>T	ENST00000527372.1	-	29	4687	c.4507G>A	c.(4507-4509)Gag>Aag	p.E1503K	MYO18A_ENST00000533112.1_Missense_Mutation_p.E1503K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1503K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1503K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1503					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTACCCACCTCTAGTTGCTGC	0.617000													12	15					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	C	T	rs145110689		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:178408731C>T	ENST00000231188.5	-	10	2739	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_ENST00000517717.1_Missense_Mutation_p.R854Q|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	854					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612000													51	63					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711613	155711613	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:155711613G>A	ENST00000295101.2	+	3	1771	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	432					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			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)	CAGCTTGGGAGACTTGCCCAT	0.413000													45	50					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49308219	49308219	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:49308219G>A	ENST00000266984.5	+	3	560	c.333G>A	c.(331-333)gaG>gaA	p.E111E	CCDC65_ENST00000320516.4_Silent_p.E111E|ARF3_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	111										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AAGCCGAGGAGCAGTACGCCC	0.502000													26	39					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35231525	35231525	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:35231525C>G	ENST00000392232.3	+	6	539	c.371C>G	c.(370-372)tCa>tGa	p.S124*	ZNF181_ENST00000459757.1_Nonsense_Mutation_p.S79*|ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S80*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GATTGGGAATCAAGATGGGAA	0.279000													34	69					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538237	1538237	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:1538237C>T	ENST00000263071.4	-	11	2357	c.2308G>A	c.(2308-2310)Gca>Aca	p.A770T	SCARF1_ENST00000348987.3_Missense_Mutation_p.A684T|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	770	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTCTGACTGCCATAGGCCCT	0.652000													17	14					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52788920	52788920	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:52788920G>A	ENST00000257974.2	-	9	1458	c.1381C>T	c.(1381-1383)Ctc>Ttc	p.L461F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	461	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCAGTGCTGAGGACAGGCGTG	0.642000													32	23					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													6	168					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1235998	1235998	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:1235998G>A	ENST00000590083.1	-	2	394	c.102C>T	c.(100-102)ccC>ccT	p.P34P	C19orf26_ENST00000215376.6_Silent_p.P28P|C19orf26_ENST00000382477.2_Silent_p.P28P			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	28						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CACCCACCGTGGGGCGTCCAG	0.692000										HNSCC(14;0.022)			27	29					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566790	4566790	+	Missense_Mutation	SNP	C	C	T	rs61751908	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:4566790C>T	ENST00000360213.1	+	1	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGATCGCTACGTGGC	0.527000													32	41					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471266	4471266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:4471266C>T	ENST00000325719.4	+	1	742	c.697C>T	c.(697-699)Cag>Tag	p.Q233*		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q233*(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGCCTCTCAGGAGGCCCG	0.478000													81	91					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526136	176526136	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:176526136C>T	ENST00000367662.3	+	2	1842	c.678C>T	c.(676-678)tcC>tcT	p.S226S	PAPPA2_ENST00000367661.3_Silent_p.S226S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	226					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						CCAAGCATTCCCTTAAACACA	0.547000													74	39					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631427	77631427	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:77631427C>T	ENST00000296043.6	+	3	1395	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	148					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTTAAACTTCGGCTGAAGCA	0.577000													19	21					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42328426	42328426	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:42328426C>T	ENST00000217026.4	+	7	820	c.693C>T	c.(691-693)gtC>gtT	p.V231V	MYBL2_ENST00000396863.4_Silent_p.V207V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	231						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCCCTCCGTCCCTCCTACCA	0.493000													15	18					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793418	242793418	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:242793418G>A	ENST00000334409.5	-	5	728	c.659C>T	c.(658-660)tCt>tTt	p.S220F		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	220					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		ATAGTCCACAGAGAACACAGG	0.632000													21	22					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34042970	34042970	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:34042970G>A	ENST00000382065.3	-	1	967	c.261C>T	c.(259-261)ccC>ccT	p.P87P	C1QTNF3_ENST00000231338.7_Intron	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0	Collagen-like.					collagen		p.P87P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CATCTACCTCGGGGTGCGGTA	0.468000													60	86					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183869323	183869323	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:183869323C>T	ENST00000304685.3	+	12	1836	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	RGL1_ENST00000539189.1_Intron|RGL1_ENST00000536277.1_Silent_p.L422L|RGL1_ENST00000360851.3_Silent_p.L424L|RGL1_ENST00000367531.1_Silent_p.L459L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	424	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GGGCACCTTCCTGACTGACCT	0.522000													70	41					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756804	54756804	+	Silent	SNP	G	G	A	rs139744787		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:54756804G>A	ENST00000450632.1	-	9	1454	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	LILRB5_ENST00000316219.5_Silent_p.F467F|LILRB5_ENST00000449561.2_Silent_p.F468F|LILRB5_ENST00000345866.6_Silent_p.F368F			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	467					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGCAGGACGAAGGCCACTG	0.592000													42	7					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17654439	17654439	+	Splice_Site	SNP	A	A	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:17654439A>G	ENST00000335393.4	+	13	1784	c.1647_splice	c.e13+1	p.K549_splice	FAM129C_ENST00000595684.1_Splice_Site_p.K549_splice|FAM129C_ENST00000601861.1_Splice_Site_p.K518_splice|FAM129C_ENST00000599164.1_Splice_Site_p.K518_splice|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000332386.5_Splice_Site_p.K549_splice|FAM129C_ENST00000300971.2_Splice_Site_p.K549_splice|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000600871.1_Splice_Site_p.K495_splice|FAM129C_ENST00000449408.2_Splice_Site_p.K275_splice	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	549										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCTGCAAAAAGGTGAGTTAA	0.532000													6	11					0	0	1	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686149	4686149	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:4686149G>A	ENST00000270560.3	+	4	427	c.395_splice	c.e4-1	p.A132_splice		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	132						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						CCTCCCACAGGGGAGCTTACT	0.667000													11	28					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													4	70					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868835	201868835	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:201868835C>G	ENST00000367288.4	-	2	1552	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	436					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTGGCGATCTCCATCTCCGTC	0.592000													45	19					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235710	127235710	+	Missense_Mutation	SNP	G	G	A	rs143868079	by1000genomes	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:127235710G>A	ENST00000265825.5	+	2	713	c.494G>A	c.(493-495)cGc>cAc	p.R165H	FSCN3_ENST00000420086.2_Missense_Mutation_p.R31H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	165						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACTATGGGCCGCATCTGGGTG	0.612000													4	139					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35231795	35231795	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:35231795T>G	ENST00000392232.3	+	6	809	c.641T>G	c.(640-642)cTt>cGt	p.L214R	ZNF181_ENST00000459757.1_Missense_Mutation_p.L169R|ZNF181_ENST00000492450.1_Missense_Mutation_p.L170R			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGTCTACTCTTTCTGAACCA	0.333000													20	37					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611603	19611603	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:19611603C>T	ENST00000361640.4	-	4	1053	c.513G>A	c.(511-513)atG>atA	p.M171I		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	171					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCATTGTACATGCCCTGTA	0.532000													23	27					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48848431	48848431	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:48848431C>A	ENST00000314191.2	-	13	1364	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E436D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	436					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCACGAGGTGCTCCAGAACTG	0.448000								Non-homologous end-joining					14	17					1.5842e-08	1.60315e-08	1	1	0
NOP2	4839	broad.mit.edu	37	12	6675298	6675298	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:6675298G>A	ENST00000541778.1	-	5	919	c.431C>T	c.(430-432)tCc>tTc	p.S144F	NOP2_ENST00000399466.2_Missense_Mutation_p.S144F|NOP2_ENST00000537442.1_Missense_Mutation_p.S148F|NOP2_ENST00000322166.5_Missense_Mutation_p.S148F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S148F|NOP2_ENST00000545200.1_Missense_Mutation_p.S144F			P46087	NOP2_HUMAN	NOP2 nucleolar protein	148					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCAGAGTTGGAGTCAGCTCC	0.493000													8	12					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128977626	128977626	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:128977626G>A	ENST00000274487.4	+	11	1972	c.1827G>A	c.(1825-1827)atG>atA	p.M609I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	609	Disintegrin.				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)		ACCCACCAATGGATGGAACTG	0.393000													18	28					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108636231	108636231	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:108636231C>T	ENST00000218006.2	-	13	2769	c.2478G>A	c.(2476-2478)cgG>cgA	p.R826R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	826					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTCCAACATCCGAAGCATAG	0.353000													44	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434448	179434448	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:179434448G>A	ENST00000589042.1	-	326	76635	c.76411C>T	c.(76411-76413)Ctg>Ttg	p.L25471L	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.L16531L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L23830L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L16406L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.L22903L|TTN_ENST00000342175.6_Silent_p.L16598L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23830	Fibronectin type-III 85.						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)			TTTTCCAACAGCTTCTCTACT	0.378000													10	27					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028401	142028401	+	RNA	SNP	T	T	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:142028401T>G	ENST00000390353.2	+	0	192																											GTGCCCAGGATATGAACCATA	0.498000													57	220					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73335837	73335837	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:73335837G>A	ENST00000377767.4	-	18	2558	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	DIS3_ENST00000545453.1_Missense_Mutation_p.R658W|DIS3_ENST00000377780.4_Missense_Mutation_p.R790W	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	820					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTTGTGCCGGAAATTTAGA	0.408000										Multiple Myeloma(4;0.011)			4	60					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541349	28541349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:28541349G>A	ENST00000452236.2	-	4	2934	c.2317C>T	c.(2317-2319)Cca>Tca	p.P773S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	773					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agttttgatggtttcattgct	0.313000													7	12					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233923	61233923	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:61233923C>T	ENST00000382768.1	+	7	957	c.957C>T	c.(955-957)ttC>ttT	p.F319F	SERPINB12_ENST00000269491.1_Silent_p.F299F			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	299					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTGTCCTTCCCCCGGTTCA	0.448000													70	87					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142499023	142499023	+	RNA	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:142499023C>T	ENST00000466254.1	+	0	299																											AAGTCCAGTTCTACGGGCTCT	0.632000													5	268					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34474670	34474670	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:34474670C>T	ENST00000241052.4	+	5	603	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	172					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAagagaaatcctcagacaca	0.383000													15	13					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275104	58275104	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:58275104C>T	ENST00000360374.2	-	1	474	c.475G>A	c.(475-477)Gca>Aca	p.A159T		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGGTGCCTGCTGCATGGATA	0.502000													20	28					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751472	62751472	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:62751472G>A	ENST00000377871.3	-	2	683	c.417C>T	c.(415-417)tcC>tcT	p.S139S	SLC22A6_ENST00000360421.4_Silent_p.S139S|SLC22A6_ENST00000421062.2_Silent_p.S139S|SLC22A6_ENST00000458333.2_Silent_p.S139S	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	139					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						CCATGTACAAGGACTGGGCCA	0.617000													10	10					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22474945	22474945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:22474945C>T	ENST00000308511.4	+	15	2107	c.1858C>T	c.(1858-1860)Ctt>Ttt	p.L620F	KIAA1967_ENST00000520861.1_Missense_Mutation_p.L295F|KIAA1967_ENST00000389279.3_Missense_Mutation_p.L620F			Q8N163	K1967_HUMAN		620					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGAGGATGGGCTTTTGCCCAA	0.502000													54	70					0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27240186	27240186	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:27240186C>T	ENST00000254227.3	-	1	271	c.246G>A	c.(244-246)caG>caA	p.Q82Q		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	82	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCTGGTCCTGGGGAGGCA	0.647000													14	17					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057994	56057994	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:56057994G>A	ENST00000313022.2	-	1	572	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGCTAAAATTGGAGACGTGTC	0.423000													30	46					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41900346	41900346	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:41900346C>T	ENST00000230340.4	+	7	1591	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	406					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAACTGCTCCGGCTGCAGCC	0.597000													57	109					0	0	1	0	0
NR1D1	9572	broad.mit.edu	37	17	38251709	38251709	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:38251709C>T	ENST00000246672.3	-	5	1866	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	412					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCAGAACATTCTTTGAGTTGC	0.612000													32	51					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127623010	127623010	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:127623010C>G	ENST00000508053.1	-	60	7844	c.6870G>C	c.(6868-6870)aaG>aaC	p.K2290N	FBN2_ENST00000262464.4_Missense_Mutation_p.K2290N			P35556	FBN2_HUMAN	fibrillin 2	2290	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTTGCACATCTTTTGATCTT	0.453000													38	59					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870939	51870939	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:51870939G>A	ENST00000371497.5	+	2	1829	c.942G>A	c.(940-942)tcG>tcA	p.S314S	TSHZ2_ENST00000603338.2_Silent_p.S311S|TSHZ2_ENST00000329613.6_Silent_p.S311S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	314					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)			CCATTTCCTCGAAAATGGTCA	0.453000													40	51					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672382	45672382	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:45672382A>T	ENST00000308064.2	-	4	762	c.92T>A	c.(91-93)tTt>tAt	p.F31Y		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	31					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCAGGTGTGAAAGGACTTGGC	0.652000													30	66					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12984532	12984532	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:12984532C>T	ENST00000251472.4	+	26	3600	c.3561C>T	c.(3559-3561)ctC>ctT	p.L1187L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1187					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGCCAAAGCTCCATCGCCAGT	0.697000													12	13					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3133098	3133098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:3133098C>T	ENST00000355072.5	+	15	2217	c.2072C>T	c.(2071-2073)tCg>tTg	p.S691L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	691					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)		TTATCTGCTTCGTTTTTGCTA	0.458000													19	27					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106897900	106897900	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:106897900T>C	ENST00000228347.4	+	27	3362	c.3140T>C	c.(3139-3141)cTc>cCc	p.L1047P	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.L989P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1047					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGCTTGCGTCTCGGGGAAATG	0.418000													28	48					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43623419	43623419	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:43623419G>A	ENST00000360835.3	-	10	1294	c.1168C>T	c.(1168-1170)Ccg>Tcg	p.P390S		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	390	EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCCTCCCCGGGGGACAGACG	0.667000													19	12					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494584	111494584	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:111494584T>C	ENST00000369763.4	-	2	1312	c.922A>G	c.(922-924)Aag>Gag	p.K308E	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTGAAGACTTAACAGGAACA	0.358000													40	22					0	0	1	0	0
GAST	2520	broad.mit.edu	37	17	39871808	39871808	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:39871808G>A	ENST00000329402.3	+	2	187	c.120G>A	c.(118-120)agG>agA	p.R40R	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	40		Cleavage.				extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGGCCAACAGGGACCTGGAGC	0.632000													52	82					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				112	36					0	0	1	0	0
TGFB3	7043	broad.mit.edu	37	14	76446913	76446913	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:76446913G>A	ENST00000238682.3	-	1	621	c.324C>T	c.(322-324)ttC>ttT	p.F108F	TGFB3_ENST00000556285.1_Silent_p.F108F	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	108					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		GGATCATGTCGAATTTATGGA	0.577000													50	66					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105929534	105929534	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:105929534C>T	ENST00000331320.7	+	11	1170	c.956C>T	c.(955-957)tCg>tTg	p.S319L	MTA1_ENST00000405646.1_Missense_Mutation_p.S302L|MTA1_ENST00000406191.1_Missense_Mutation_p.S319L|MTA1_ENST00000435036.2_5'UTR	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	319	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCGTGGAAGTCGCTGACCAGC	0.652000													65	80					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10534974	10534974	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:10534974C>T	ENST00000583535.1	-	36	5327	c.5240G>A	c.(5239-5241)aGg>aAg	p.R1747K	MYH3_ENST00000226209.7_Missense_Mutation_p.R1747K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1747					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTGCATCCCTGCTGGCATC	0.567000											OREG0024180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	23					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503739	140503739	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:140503739C>T	ENST00000194152.1	+	1	2159	c.2159C>T	c.(2158-2160)tCg>tTg	p.S720L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		720					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCGGCCTCGGTGGGTCGC	0.672000													77	84					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769687	13769687	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:13769687C>T	ENST00000265104.4	-	57	9747	c.9643G>A	c.(9643-9645)Gag>Aag	p.E3215K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3215	Stalk (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)					GCAACAGACTCTGAAGCTTCT	0.428000									Kartagener syndrome				6	86					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163144837	163144837	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:163144837G>A	ENST00000263642.2	-	5	1298	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	301					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGGCTCCGGGGATGCTCTTG	0.473000													13	22					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754516	49754516	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:49754516C>T	ENST00000304801.3	-	1	537	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	129					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCCTTCCCTTCTTCCTCCACA	0.517000													28	75					0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623880	2623880	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:2623880G>A	ENST00000296847.3	-	3	700	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	59										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ACCCGGGAGGGGAGAGGAGCC	0.617000													65	52					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278836	130278836	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:130278836C>T	ENST00000257359.6	-	7	2457		c.e7-1			NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8						negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAGCTTTTCCCTAGAAAGAGG	0.498000													27	40					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14159865	14159865	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:14159865C>T	ENST00000263379.2	+	9	1339	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	405	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GCCTCTGCATCCTCCGTCTGG	0.562000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	56					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701056	17701056	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:17701056C>T	ENST00000261641.6	+	1	4794	c.4794_splice	c.e1+1	p.F1598_splice	RAI1_ENST00000353383.1_Silent_p.F1598F			Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1598						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCTCACCCTTCGTGCGGGTGG	0.612000													61	77					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:39604026C>T	ENST00000265708.4	-	19	2242	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_ENST00000521880.1_Silent_p.R650R|ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000379853.2_Silent_p.R557R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	713					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)		TCCATTTTTTCCTTTGGAAAT	0.284000													17	23					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113785678	113785678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:113785678C>T	ENST00000327407.2	-	5	383	c.276G>A	c.(274-276)atG>atA	p.M92I	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	92					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CATACAGGTCCATGATATTTT	0.463000													26	29					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407528	77407528	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:77407528G>A	ENST00000560626.2	-	7	4686	c.4211C>T	c.(4210-4212)cCc>cTc	p.P1404L	PEAK1_ENST00000312493.4_Missense_Mutation_p.P1404L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1404	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ATCCTCCCAGGGAAGCAGACG	0.498000													21	37					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337882	115337882	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:115337882C>T	ENST00000537906.1	+	7	674	c.512C>T	c.(511-513)tCa>tTa	p.S171L	HABP2_ENST00000351270.3_Silent_p.F182F|HABP2_ENST00000541666.1_Silent_p.F182F|HABP2_ENST00000542051.1_Silent_p.F156F			Q14520	HABP2_HUMAN	hyaluronan binding protein 2	0	EGF-like 3.	Cleavage (By similarity).			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)		CCGACCAGTTCAAGGGGAAAT	0.552000													33	3					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51767281	51767281	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:51767281T>A	ENST00000447632.2	-	12	1172	c.1124A>T	c.(1123-1125)tAc>tTc	p.Y375F	TTC39A_ENST00000262675.7_Missense_Mutation_p.Y312F|TTC39A_ENST00000413473.2_Missense_Mutation_p.Y343F|TTC39A_ENST00000451380.1_Missense_Mutation_p.Y339F|TTC39A_ENST00000371747.3_Missense_Mutation_p.Y374F|TTC39A_ENST00000262676.5_3'UTR|TTC39A_ENST00000371750.5_Missense_Mutation_p.Y340F			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	375							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CAGGTCGGCGTAGAAGTAGGA	0.582000													6	15					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9438089	9438089	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:9438089G>A	ENST00000378501.2	+	30	3004	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K	PLCB4_ENST00000378493.1_Missense_Mutation_p.E997K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E997K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E997K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1009K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1009K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	997					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						AATGAAAAAAGAAACAGAAAT	0.358000													7	18					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27889631	27889631	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:27889631G>A	ENST00000307201.4	-	2	1525	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	452						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GTTGGAAGAGGAAGAGACTTC	0.552000													35	68					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134093	128134093	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:128134093C>T	ENST00000368250.1	-	5	1954	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	THEMIS_ENST00000537166.1_Missense_Mutation_p.E530K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E565K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E565K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	565	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AACTTTGTTTCCTCTACTGAG	0.483000													47	32					0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202123317	202123317	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:202123317C>T	ENST00000309017.3	-	6	1691	c.918G>A	c.(916-918)aaG>aaA	p.K306K	PTPN7_ENST00000308986.5_Silent_p.K201K|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000543735.1_Silent_p.K30K|PTPN7_ENST00000367279.4_Silent_p.K240K	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	201	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTCCTACCTCCTTGCCCTCTC	0.592000													37	21					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155156314	155156314	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:155156314C>T	ENST00000368382.1	+	10	1996	c.1859C>T	c.(1858-1860)gCc>gTc	p.A620V	TRIM46_ENST00000545012.1_Missense_Mutation_p.A517V|TRIM46_ENST00000334634.4_Missense_Mutation_p.A643V|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	643	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCGAGGATGCCACAGTGGAG	0.632000													57	54					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35211490	35211490	+	Missense_Mutation	SNP	C	C	T	rs141155638		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:35211490C>T	ENST00000263398.6	+	5	979	c.545C>T	c.(544-546)tCc>tTc	p.S182F	CD44_ENST00000449691.2_Missense_Mutation_p.S182F|CD44_ENST00000526669.2_Intron|CD44_ENST00000434472.2_Missense_Mutation_p.S182F|CD44_ENST00000360158.4_Missense_Mutation_p.S182F|CD44_ENST00000433354.2_Missense_Mutation_p.S182F|CD44_ENST00000352818.4_Missense_Mutation_p.S182F|CD44_ENST00000428726.2_Missense_Mutation_p.S182F|CD44_ENST00000433892.2_Missense_Mutation_p.S182F|CD44_ENST00000415148.2_Missense_Mutation_p.S182F|CD44_ENST00000437706.2_Missense_Mutation_p.S182F|CD44_ENST00000278386.6_Intron	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	182					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGCAGCGGCTCCTCCAGTGAA	0.517000													20	37					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77282747	77282747	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:77282747G>A	ENST00000376896.2	+	8	1653	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	RORB_ENST00000396204.2_Silent_p.K358K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	358	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTTTGCAAAGAATTTGTGTT	0.398000													34	50					0	0	1	0	0
BCL2L10	10017	broad.mit.edu	37	15	52404609	52404609	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:52404609C>T	ENST00000260442.3	-	1	363	c.315G>A	c.(313-315)ggG>ggA	p.G105G	BCL2L10_ENST00000561198.1_Silent_p.G105G	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	95					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CCAGCAGCGTCCCTGCGAAGG	0.701000													9	12					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3984759	3984759	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:3984759G>A	ENST00000381638.2	-	18	2864	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	914							calcium ion binding|zinc ion binding	p.L914delL(1)		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						TCAGGTAAAAGAAGAAGGCCG	0.448000													44	41					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33887212	33887212	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:33887212C>T	ENST00000300255.2	+	8	1511	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Silent_p.S343S|EVA1C_ENST00000401402.3_Silent_p.S298S	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		TCAGAGAGTCCTGTGCCAAGG	0.627000													17	31					0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35842087	35842087	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:35842087C>T	ENST00000374704.4	+	8	900	c.720C>T	c.(718-720)atC>atT	p.I240I	CCNY_ENST00000339497.5_Silent_p.I215I|CCNY_ENST00000374706.1_Silent_p.I186I|CCNY_ENST00000265375.9_Silent_p.I186I|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	240	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ACTGCCAGATCCTGAAAGACA	0.537000													24	13					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52265196	52265196	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:52265196C>T	ENST00000321600.1	+	3	499	c.453C>T	c.(451-453)tcC>tcT	p.S151S	DYNAP_ENST00000585973.1_Silent_p.S99S	NM_173629.1	NP_775900.1			dynactin associated protein																		TCCAGCTATCCACAAATGATG	0.448000													19	30					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77283442	77283442	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:77283442C>T	ENST00000388914.3	-	12	2009	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393000													41	65					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	40999866	40999866	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:40999866C>T	ENST00000399564.4	-	40	4948	c.4498G>A	c.(4498-4500)Gaa>Aaa	p.E1500K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E1055K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CACAGAATTTCCTGGTTTTTC	0.473000													21	48					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588421	28588421	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:28588421C>T	ENST00000434452.1	-	10	1488	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	DSC3_ENST00000360428.4_Missense_Mutation_p.R445K	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	445	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGGAATATCTCTAGCAAATGG	0.438000													19	40					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70065275	70065275	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:70065275G>A	ENST00000330891.5	-	9	1259	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	BEST3_ENST00000488961.1_Missense_Mutation_p.P132S|BEST3_ENST00000476098.1_Missense_Mutation_p.P132S|BEST3_ENST00000553096.1_Missense_Mutation_p.P239S|BEST3_ENST00000331471.4_Missense_Mutation_p.P345S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	345						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)			GTGTATGGTGGGCGAGCAGCA	0.423000													23	40					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752311	36752311	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:36752311C>T	ENST00000354618.5	+	4	704	c.480C>T	c.(478-480)tcC>tcT	p.S160S	THRAP3_ENST00000469141.2_Silent_p.S160S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	160	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTCATCCTCCCGTTCTTCCT	0.537000			T	USP6	aneurysmal bone cysts								130	187					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77303873	77303873	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:77303873C>T	ENST00000388914.3	-	7	956	c.803_splice	c.e7-1	p.R268_splice	CCDC158_ENST00000434846.2_Splice_Site_p.R268_splice	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	268										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTGCTCAATCCTATAAAAAG	0.318000													18	27					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471144	132471144	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:132471144C>T	ENST00000333577.4	+	7	2232	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	EP400_ENST00000332482.4_Missense_Mutation_p.P635L|EP400_ENST00000389562.2_Missense_Mutation_p.P671L|EP400_ENST00000389561.2_Missense_Mutation_p.P672L|EP400_ENST00000330386.6_Missense_Mutation_p.P672L			Q96L91	EP400_HUMAN	E1A binding protein p400	708					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCCTCGCGCCTGTGAGTGGC	0.632000													40	53					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213056	21213056	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:21213056G>A	ENST00000574002.1	-	14	1957	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L	ZP2_ENST00000574091.1_Missense_Mutation_p.P483L|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.P492L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	492	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CAAGGTAAATGGACCCAACTT	0.413000													47	57					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136073	40136073	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:40136073G>A	ENST00000278198.2	-	2	3733	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	LRRC4C_ENST00000527150.1_Silent_p.I590I|LRRC4C_ENST00000528697.1_Silent_p.I590I|LRRC4C_ENST00000530763.1_Silent_p.I590I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	590					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTCATGCTCGATAGCAGGCA	0.423000													43	56					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132730587	132730587	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:132730587T>A	ENST00000370818.3	-	7	1899	c.1454A>T	c.(1453-1455)gAt>gTt	p.D485V	GPC3_ENST00000543339.1_Missense_Mutation_p.D431V|GPC3_ENST00000394299.2_Missense_Mutation_p.D508V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	485						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTTTTATCCAGAACTCT	0.448000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				68	5					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3118921	3118921	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:3118921G>A	ENST00000304094.1	+	1	7	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AGCCATGAGGGAAAATAACCA	0.403000													10	30					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120634627	120634627	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:120634627C>T	ENST00000551150.1	-	7	1218	c.903G>A	c.(901-903)aaG>aaA	p.K301K	RPLP0_ENST00000552292.1_Silent_p.K91K|RPLP0_ENST00000392514.4_Silent_p.K301K|RPLP0_ENST00000228306.4_Silent_p.K301K|RPLP0_ENST00000313104.5_Silent_p.K239K|RPLP0_ENST00000546989.1_Silent_p.K265K			P05388	RLA0_HUMAN	ribosomal protein, large, P0	301					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGACTCTTCCTTGGCTTCAA	0.517000													24	23					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159493933	159493933	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:159493933C>T	ENST00000307765.5	+	2	384	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000343542.5_Silent_p.L45L|RXFP1_ENST00000470033.1_Silent_p.L45L|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000423548.1_Silent_p.L45L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	45	LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GCCTCAGCTCCTGCACTGTAA	0.552000													44	44					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70450888	70450888	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:70450888C>T	ENST00000373644.4	+	12	5937	c.5728C>T	c.(5728-5730)Ctc>Ttc	p.L1910F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1910					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						AGTGGCTCCTCTCCCCACCCT	0.587000													31	6					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275656	16275656	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:16275656C>T	ENST00000269878.4	-	5	464	c.415G>A	c.(415-417)Ggg>Agg	p.G139R	CIB3_ENST00000379859.3_Missense_Mutation_p.G90R|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087).				calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GCACTCAGCCCCCCCCGCGTC	0.567000													24	51					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28967775	28967775	+	Silent	SNP	T	T	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:28967775T>C	ENST00000377179.3	-	4	653	c.141A>G	c.(139-141)ggA>ggG	p.G47G	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GCGGCAGGTTTCCTTGGCTTC	0.453000													20	11					0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124116909	124116909	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:124116909G>A	ENST00000286713.2	-	3	225	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.R19C	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	70					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TGTAAAATGCGACCCAATCTA	0.299000													22	26					0	0	1	0	0
IGKV1D-13	28902	broad.mit.edu	37	2	90193280	90193280	+	RNA	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:90193280G>A	ENST00000390275.2	+	0	387																											CTAAGCTCCTGATCTATGATG	0.537000													36	196					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967673	87967673	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:87967673C>T	ENST00000369577.3	+	8	4369	c.4326C>T	c.(4324-4326)ttC>ttT	p.F1442F	ZNF292_ENST00000339907.4_Silent_p.F1437F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATCTACCTTCAATCCAGAAG	0.413000													64	22					0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97494860	97494860	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:97494860C>T	ENST00000305510.3	+	7	2076	c.2048C>T	c.(2047-2049)aCc>aTc	p.T683I	CNNM3_ENST00000480035.1_3'UTR|ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.T635I	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	683					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GAGAAGACCACCACAGCGGCA	0.622000													16	20					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119735476	119735476	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:119735476G>A	ENST00000541757.1	+	9	877	c.497G>A	c.(496-498)gGa>gAa	p.G166E	MARCO_ENST00000327097.4_Missense_Mutation_p.G244E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	244	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGAAACTGGAACTAAGGGA	0.602000													9	12					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48378023	48378023	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:48378023G>C	ENST00000222002.3	-	5	775	c.636C>G	c.(634-636)aaC>aaG	p.N212K		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	212					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TGAGAATTAAGTTCAGTTCTT	0.393000													47	5					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7845570	7845570	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:7845570C>T	ENST00000377532.3	+	2	422	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PER3_ENST00000361923.2_Silent_p.F66F|PER3_ENST00000377541.1_Silent_p.F66F			P56645	PER3_HUMAN	period circadian clock 3	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAATACTTCCCCTCGGAGA	0.413000													24	31					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323331	2323331	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:2323331C>T	ENST00000263092.5	-	10	1749	c.1622G>A	c.(1621-1623)aGg>aAg	p.R541K	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.R323K	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	541							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CATCAGATCCCTGTTCTGGCC	0.473000													4	66					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150690942	150690942	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:150690942G>A	ENST00000297494.3	+	2	408	c.51G>A	c.(49-51)ctG>ctA	p.L17L	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000467517.1_Silent_p.L17L|NOS3_ENST00000484524.1_Silent_p.L17L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	17					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTGCGGCCTGGGGCTGGGGC	0.706000													20	81					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498881	118498881	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:118498881C>T	ENST00000361417.2	+	7	1753	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	PHLDB1_ENST00000356063.5_Missense_Mutation_p.R448W	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	448										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCGCCTGGGCCGGCGGGGCCT	0.647000													62	96					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58235475	58235475	+	Silent	SNP	T	T	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:58235475T>C	ENST00000300900.4	+	6	666	c.567T>C	c.(565-567)aaT>aaC	p.N189N		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	189					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CACTGTCTAATATCCCCAAAC	0.617000													34	33					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65732014	65732014	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:65732014C>T	ENST00000312397.5	+	3	492	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	134					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGCTGAAACCCTTGGAGGT	0.498000													25	33					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36259305	36259305	+	Splice_Site	SNP	G	G	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:36259305G>T	ENST00000544099.1	+	11	1365		c.e11-1		C19orf55_ENST00000396908.4_Splice_Site			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55											cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTTCTCCAGGGAAGCGGAT	0.632000													10	18					1.76689e-08	1.78376e-08	1	1	0
TMEM202	338949	broad.mit.edu	37	15	72690700	72690700	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:72690700C>T	ENST00000341689.3	+	1	87	c.33C>T	c.(31-33)ttC>ttT	p.F11F	TMEM202_ENST00000567679.1_Silent_p.F11F	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	11						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTTGACTTTCCACAGTCCTG	0.448000													8	13					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086282	56086282	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:56086282C>T	ENST00000312711.1	+	1	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTACTTTATCCTTCTGTGGC	0.373000													21	27					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338454	103338454	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:103338454T>G	ENST00000428762.1	-	10	1148	c.989A>C	c.(988-990)cAg>cCg	p.Q330P	RELN_ENST00000343529.5_Missense_Mutation_p.Q330P|RELN_ENST00000424685.2_Missense_Mutation_p.Q330P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	330					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGATTTTCCTGCTTCCACTG	0.448000													174	81					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113697977	113697977	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:113697977G>A	ENST00000003302.4	-	11	1233	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	USP28_ENST00000537706.1_Missense_Mutation_p.P389S|USP28_ENST00000260188.5_Missense_Mutation_p.P389S|USP28_ENST00000545540.1_Missense_Mutation_p.P264S|USP28_ENST00000544967.1_Missense_Mutation_p.P97S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	389					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATAATCTGAGGAAATTCCAGC	0.393000													16	22					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952108	22952108	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:22952108C>T	ENST00000397104.3	-	2	84	c.85G>A	c.(85-87)Gat>Aat	p.D29N	ZNF99_ENST00000596209.1_Missense_Mutation_p.D8N					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGGTCACATCCCAAAATGTC	0.393000													25	35					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799688	133799688	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:133799688G>A	ENST00000372338.4	-	3	890	c.648C>T	c.(646-648)ccC>ccT	p.P216P	FIBCD1_ENST00000253018.4_Silent_p.P58P|FIBCD1_ENST00000448616.1_Silent_p.P216P|FIBCD1_ENST00000372337.2_Silent_p.P58P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	216					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCTTGTTGCGGGGCCGGCCCA	0.706000													14	14					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136917538	136917538	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:136917538T>C	ENST00000303407.7	-	3	426	c.241A>G	c.(241-243)Atg>Gtg	p.M81V	BRD3_ENST00000371834.2_Missense_Mutation_p.M81V|BRD3_ENST00000357885.2_Missense_Mutation_p.M81V	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	81	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCCATATCCATTGGGTTTTTA	0.323000			T	C15orf55	lethal midline carcinoma of young people								16	26					0	0	1	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292150	89292150	+	RNA	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:89292150G>A	ENST00000495489.1	-	0	175																											CCCGACAAGTGATGGTGACTC	0.483000													69	90					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237264	100237264	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:100237264G>T	ENST00000305046.8	-	5	425	c.358C>A	c.(358-360)Cct>Act	p.P120T	ADH1B_ENST00000394887.3_Missense_Mutation_p.P80T			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	120					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCCCCCGAGGATTGCCTAGA	0.542000													11	26					1.08611e-07	1.09127e-07	1	1	0
TRBV24-1	28563	broad.mit.edu	37	7	142364669	142364669	+	RNA	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:142364669C>T	ENST00000390397.2	+	0	340																											GTCTGCCATCCCCAACCAGAC	0.478000													118	51					0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140049145	140049145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:140049145G>A	ENST00000358337.5	+	7	1295	c.1058G>A	c.(1057-1059)tGg>tAg	p.W353*	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	353					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAGACTTGGAGCACCGAT	0.552000													6	8					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70009453	70009453	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:70009453G>A	ENST00000316296.5	+	17	1888	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	ANO1_ENST00000538023.1_Intron|ANO1_ENST00000398543.2_Intron|ANO1_ENST00000531349.1_Intron|ANO1_ENST00000355303.5_Intron|ANO1_ENST00000530676.1_Intron			Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	0					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	p.?(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGAGGTAACCGAAATTTTATT	0.483000													23	18					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331559	17331559	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:17331559G>A	ENST00000452699.1	-	4	486	c.297C>T	c.(295-297)tcC>tcT	p.S99S	ATP13A2_ENST00000326735.8_Silent_p.S99S|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.S99S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	99					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGAGCTGCCAGGAACTATCCT	0.637000													23	17					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45088459	45088459	+	Splice_Site	SNP	G	G	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:45088459G>C	ENST00000355387.2	+	4	1254	c.804_splice	c.e4+1	p.K268_splice	RNF220_ENST00000443020.2_Splice_Site_p.K29_splice|RNF220_ENST00000372247.2_Splice_Site_p.K268_splice|RNF220_ENST00000361799.2_Splice_Site_p.K268_splice			Q5VTB9	RN220_HUMAN	ring finger protein 220	268					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCACCCCAAAGGTAGGTGGCC	0.502000													25	39					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79181271	79181271	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:79181271C>T	ENST00000554719.1	+	5	1205	c.714C>T	c.(712-714)atC>atT	p.I238I	NRXN3_ENST00000335750.5_Silent_p.I238I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGGCTGCATCCGCGACCTAT	0.577000													22	27					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47380147	47380147	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:47380147G>A	ENST00000294947.2	-	2	125	c.90C>T	c.(88-90)gcC>gcT	p.A30A	C2orf61_ENST00000445927.2_Silent_p.A30A|CALM2_ENST00000422269.1_5'UTR	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	30								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGTCTTTTGGGCTGGTTTCT	0.318000													17	16					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46746939	46746939	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:46746939C>T	ENST00000343304.6	-	5	1899	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	538										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACGTGTCAGCTCCAGGATGG	0.632000													27	33					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186954254	186954254	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:186954254C>T	ENST00000296280.6	-	11	1630	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.V356M	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	466	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)		GTGTCCTCCACCACTATCAGG	0.617000													35	11					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169495230	169495230	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:169495230C>T	ENST00000367796.3	-	18	5841	c.5640G>A	c.(5638-5640)aaG>aaA	p.K1880K	F5_ENST00000367797.3_Silent_p.K1875K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1875	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTTTTGATGCCTTCATTTCAA	0.363000													31	98					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698939	70698939	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:70698939C>T	ENST00000338779.6	-	13	1463	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N	FLJ00418_ENST00000597002.1_Missense_Mutation_p.S83F	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	397					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCCACTCGGTCCTTCCTCCGC	0.711000													12	12					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200446	174200446	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:174200446C>T	ENST00000251507.4	+	4	669	c.495C>T	c.(493-495)ccC>ccT	p.P165P	RABGAP1L_ENST00000357444.6_Silent_p.P128P|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	165	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTCAATACCCCTTTCCTGTTA	0.408000													55	172					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77082330	77082330	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:77082330C>T	ENST00000579016.1	+	14	2131	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	711						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CGGCCAGGATCGTCGCATGGA	0.632000													31	45					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94230005	94230005	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:94230005G>A	ENST00000415788.2	-	8	1185	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	SGCE_ENST00000437425.2_Silent_p.V289V|SGCE_ENST00000445866.2_Silent_p.V330V|SGCE_ENST00000447873.1_Silent_p.V330V|SGCE_ENST00000428696.2_Silent_p.V330V|SGCE_ENST00000265735.7_Silent_p.V330V			O43556	SGCE_HUMAN	sarcoglycan, epsilon	330					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTAGAAAAAGGACCAGTGCCA	0.418000													9	22					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233170	67233170	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:67233170A>G	ENST00000393997.2	+	1	157	c.100A>G	c.(100-102)Acc>Gcc	p.T34A	ELMO3_ENST00000360833.1_Missense_Mutation_p.T34A	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	0					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGCCAGGTGCACCCTTGGCCG	0.677000													16	10					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61938855	61938855	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:61938855C>T	ENST00000422202.1	+	5	599	c.531C>T	c.(529-531)ttC>ttT	p.F177F	COL20A1_ENST00000358894.6_Silent_p.F170F|COL20A1_ENST00000326996.6_Silent_p.F170F|COL20A1_ENST00000435874.1_Silent_p.F177F			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	170					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCCCCAGTTCCGCTGCCTGC	0.682000													10	23					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901540	13901540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:13901540C>T	ENST00000265104.4	-	14	1977	c.1873G>A	c.(1873-1875)Gga>Aga	p.G625R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	625	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)					AAAATCTTTCCAGCGATGGGA	0.507000									Kartagener syndrome				5	14					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686621	54686621	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:54686621C>T	ENST00000540264.2	-	2	1168	c.659G>A	c.(658-660)gGg>gAg	p.G220E	NFE2_ENST00000312156.4_Missense_Mutation_p.G220E|NFE2_ENST00000435572.2_Missense_Mutation_p.G220E|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.G220E			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	220					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CCCTGCCTCCCCCCGTGCAGT	0.572000													15	24					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11964207	11964207	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:11964207C>T	ENST00000339865.5	+	19	3198	c.2435C>T	c.(2434-2436)aCt>aTt	p.T812I	USP47_ENST00000399455.2_Missense_Mutation_p.T900I|USP47_ENST00000527733.1_Missense_Mutation_p.T880I|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	900					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AGCAAAAGTACTGAGACAAGT	0.418000													14	35					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447030	226447030	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:226447030C>T	ENST00000272907.6	+	4	1310	c.897C>T	c.(895-897)ccC>ccT	p.P299P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	299																	GTGCTACTCCCACGGTGCCTG	0.572000													28	25					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12380020	12380020	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:12380020G>A	ENST00000256186.2	+	9	2373	c.2082G>A	c.(2080-2082)agG>agA	p.R694R		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	694					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCTGAGCAGGACTTGAGGAG	0.537000													78	75					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875174	247875174	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:247875174T>C	ENST00000302084.2	-	1	931	c.884A>G	c.(883-885)aAg>aGg	p.K295R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTTACTTCCTTATTACGAAG	0.428000													40	107					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415094	105415094	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:105415094G>A	ENST00000333244.5	-	7	6813	c.6694C>T	c.(6694-6696)Ctc>Ttc	p.L2232F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2232						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCCTTTGAGGCCGACTTCC	0.617000													86	101					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97157951	97157951	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:97157951C>T	ENST00000524981.3	+	26	3416	c.3416C>T	c.(3415-3417)tCt>tTt	p.S1139F				Q6ZTY8	CL063_HUMAN		1113										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAAGTAGTTCTGTTAAAGAA	0.333000													8	22					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030215	138030215	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:138030215C>T	ENST00000409968.1	+	11	2557	c.2379C>T	c.(2377-2379)tcC>tcT	p.S793S	THSD7B_ENST00000413152.2_Silent_p.S762S|THSD7B_ENST00000272643.3_Silent_p.S793S|THSD7B_ENST00000543459.1_Intron					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)		AAGATGTTTCCTTGTGTCCTG	0.383000													7	19					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347822	156347822	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:156347822C>T	ENST00000400992.2	+	4	577	c.209C>T	c.(208-210)tCc>tTc	p.S70F	RHBG_ENST00000368249.1_Missense_Mutation_p.S139F|RHBG_ENST00000255013.3_Missense_Mutation_p.S70F|RHBG_ENST00000368246.2_Missense_Mutation_p.S139F|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_Missense_Mutation_p.S70F			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	139					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTGCTCATCTCCTTTGGTGCC	0.602000													57	57					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784063	9784063	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:9784063A>G	ENST00000304374.2	+	1	806	c.410A>G	c.(409-411)gAc>gGc	p.D137G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	137					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.D137G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCAGCGTGGACCGCTACTGG	0.612000													3	37					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698940	70698940	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:70698940C>T	ENST00000338779.6	-	13	1462	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	FLJ00418_ENST00000597002.1_Silent_p.S83S	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	396					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCACTCGGTCCTTCCTCCGCT	0.706000													12	14					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47398540	47398540	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:47398540C>T	ENST00000285039.7	-	27	3899	c.3600G>A	c.(3598-3600)ctG>ctA	p.L1200L	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.L341L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1200					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATCTTACCTTCAGACTATTGT	0.527000													200	256					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28841264	28841264	+	Silent	SNP	T	T	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:28841264T>C	ENST00000399613.1	+	10	1069	c.1006T>C	c.(1006-1008)Ttg>Ctg	p.L336L	PAN3_ENST00000282391.5_Silent_p.L224L|PAN3_ENST00000380958.3_Silent_p.L536L			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	536	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTGCATGGTGTTGGTCGACAT	0.378000													26	38					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090247	32090247	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:32090247C>T	ENST00000438447.1	+	20	7081	c.6693C>T	c.(6691-6693)agC>agT	p.S2231S	PDZD2_ENST00000282493.3_Silent_p.S2231S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2231					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTCTCAAGCCATTTTGGAC	0.627000													138	210					0	0	1	0	0
C10orf67	256815	broad.mit.edu	37	10	23611456	23611456	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:23611456G>A	ENST00000323327.4	-	3	408	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	114										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						TACCTGGAGGGATTTCATCAT	0.393000													11	1					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428920	10428920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:10428920C>T	ENST00000245503.5	-	32	4769	c.4385G>A	c.(4384-4386)tGg>tAg	p.W1462*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.W1462*|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1462					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						TTTCTGTTTCCATTCTGCCAG	0.468000													22	26					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410169	159410169	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:159410169C>T	ENST00000423932.3	+	1	658	c.621C>T	c.(619-621)atC>atT	p.I207I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	207					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCAATGAAATCCTGACTTTGA	0.438000													56	129					0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65561697	65561697	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:65561697G>A	ENST00000335987.3	+	2	648	c.296G>A	c.(295-297)gGc>gAc	p.G99D	OVOL1_ENST00000532448.1_Missense_Mutation_p.G37D	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	99					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		AGAGACCATGGCTTCCTGCGC	0.622000													45	47					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855612	2855612	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:2855612C>T	ENST00000520002.1	-	55	8856	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T	CSMD1_ENST00000542608.1_Silent_p.T2708T|CSMD1_ENST00000602557.1_Silent_p.T2767T|CSMD1_ENST00000400186.3_Silent_p.T2709T|CSMD1_ENST00000602723.1_Silent_p.T2709T|CSMD1_ENST00000537824.1_Silent_p.T2766T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2767	Sushi 19.					integral to membrane		p.T2766T(1)|p.T2495T(1)		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)		GCAAATAGCCCGTGTTGCAGG	0.557000													25	33					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170784365	170784365	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:170784365C>T	ENST00000436636.2	-	31	4203	c.3859_splice	c.e31+1	p.A1287_splice	TNIK_ENST00000470834.1_Splice_Site_p.A1250_splice|TNIK_ENST00000475336.1_Splice_Site_p.A1195_splice|TNIK_ENST00000538048.1_Splice_Site_p.A1239_splice|TNIK_ENST00000488470.1_Splice_Site_p.A1232_splice|TNIK_ENST00000460047.1_Splice_Site_p.A1224_splice|TNIK_ENST00000284483.8_Splice_Site_p.A1279_splice|TNIK_ENST00000341852.6_Splice_Site_p.A1203_splice|TNIK_ENST00000369326.5_Splice_Site_p.A1265_splice|TNIK_ENST00000357327.5_Splice_Site_p.A1258_splice	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1287	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTTAACCTACCCACAGACGTG	0.423000													20	4					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155099294	155099294	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:155099294T>G	ENST00000392825.3	+	6	1129	c.562T>G	c.(562-564)Tta>Gta	p.L188V	GALNT13_ENST00000409237.1_Missense_Mutation_p.L188V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	188	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACGCTCTGGGTTAATACGTGC	0.408000													15	20					0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159640801	159640801	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:159640801G>A	ENST00000393980.4	+	3	256	c.110G>A	c.(109-111)aGa>aAa	p.R37K	FABP6_ENST00000393982.1_Missense_Mutation_p.R37K	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCTGCAGAGAATGAAACAG	0.473000													21	30					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205031573	205031573	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:205031573G>A	ENST00000331830.4	+	10	1400	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	372	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACAGAACCGGGTGGAGGTGT	0.617000													27	89					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168110632	168110632	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:168110632C>T	ENST00000409195.1	+	10	10735	c.10646C>T	c.(10645-10647)tCa>tTa	p.S3549L	XIRP2_ENST00000409043.1_Missense_Mutation_p.H423Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.H423Y|XIRP2_ENST00000409605.1_Missense_Mutation_p.H201Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3549L|XIRP2_ENST00000420519.1_Missense_Mutation_p.H456Y|XIRP2_ENST00000409728.1_Missense_Mutation_p.H456Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3327L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3374					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCAGAATTTTCATAAGTCCTG	0.383000													23	16					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84772692	84772692	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:84772692A>T	ENST00000257776.4	+	3	343	c.208A>T	c.(208-210)Aca>Tca	p.T70S		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	70					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGACCAAGACAGGAGCCCC	0.448000													16	12					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112166836	112166836	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:112166836G>A	ENST00000412145.1	-	14	4005	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F	PTPN3_ENST00000394827.3_Silent_p.F83F|PTPN3_ENST00000374541.2_Silent_p.F615F|PTPN3_ENST00000446349.1_Silent_p.F439F|PTPN3_ENST00000262539.3_Silent_p.F461F	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	615					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						tggcttcggggaaaagctggt	0.522000													48	37					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378242	14378242	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:14378242C>T	ENST00000403951.2	-	23	2442	c.2023G>A	c.(2023-2025)Gga>Aga	p.G675R	DGKB_ENST00000258767.5_Missense_Mutation_p.G675R|DGKB_ENST00000402815.1_Missense_Mutation_p.G674R|DGKB_ENST00000399322.3_Missense_Mutation_p.G675R|DGKB_ENST00000444700.2_Missense_Mutation_p.G656R|DGKB_ENST00000406247.3_Missense_Mutation_p.G675R|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.G667R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	675					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTAGACTCTCCCCAAAGATTG	0.413000													23	41					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677859	169677859	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:169677859G>A	ENST00000236147.4	-	3	370	c.210C>T	c.(208-210)tgC>tgT	p.C70C	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	57	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AATTGTCTCGGCAGAATCTTC	0.433000													8	6					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066818	23066818	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:23066818G>A	ENST00000246006.4	-	1	159	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	4					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					gcagGCCCATGGAGGTGGCCA	0.706000													6	2					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056557	9056557	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:9056557C>T	ENST00000397910.4	-	3	31092	c.30889G>A	c.(30889-30891)Gcc>Acc	p.A10297T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10299	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						CCTGAGATGGCTCGTGGAACT	0.522000													31	61					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468178	50468178	+	Silent	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:50468178C>T	ENST00000331340.3	+	8	1568	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	IKZF1_ENST00000357364.4_Silent_p.F384F|IKZF1_ENST00000439701.1_Silent_p.F429F|IKZF1_ENST00000343574.5_Silent_p.F384F|IKZF1_ENST00000438033.1_Silent_p.F384F|IKZF1_ENST00000349824.4_Silent_p.F328F|IKZF1_ENST00000359197.5_Silent_p.F429F|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Silent_p.F241F	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	471	Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGGTGCTCTTCCTGGATCACG	0.617000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	18					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890931	205890931	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:205890931G>A	ENST00000367135.3	-	17	1931	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P	SLC26A9_ENST00000367134.2_Silent_p.P606P|SLC26A9_ENST00000340781.4_Silent_p.P606P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	606	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTCGGTGGGGGGCGCATTCT	0.617000													4	11					0	0	1	0	0
CUTA	51596	broad.mit.edu	37	6	33384521	33384521	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:33384521A>G	ENST00000374500.5	-	6	634	c.503T>C	c.(502-504)aTt>aCt	p.I168T	CUTA_ENST00000488478.1_Silent_p.N132N|CUTA_ENST00000374496.3_Missense_Mutation_p.I126T|CUTA_ENST00000440279.3_Missense_Mutation_p.I126T|CUTA_ENST00000607266.1_Missense_Mutation_p.I126T|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000488034.1_Missense_Mutation_p.I149T	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	149					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AGGCAATGCAATTACCTCGGC	0.517000													44	20					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3190713	3190713	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:3190713G>A	ENST00000396878.3	+	6	1220	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ZNF213_ENST00000576416.1_Missense_Mutation_p.E249K|ZNF213_ENST00000416391.2_Missense_Mutation_p.E91K|ZNF213_ENST00000574902.1_Missense_Mutation_p.E249K	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	249	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGCCAAAGTGAGAAGTCCCT	0.627000													23	50					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436784	16436784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:16436784G>A	ENST00000380672.4	-	6	1465	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	BNC2_ENST00000380666.2_Nonsense_Mutation_p.R470*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.R403*|BNC2_ENST00000545497.1_Nonsense_Mutation_p.R375*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGGTGCATCGATGTTTGATC	0.443000													31	47					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201970534	201970534	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:201970534C>T	ENST00000295640.4	+	7	1278	c.1235C>T	c.(1234-1236)aCc>aTc	p.T412I	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.T373I|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	412					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TATAATGAGACCCCCTACGAG	0.493000													12	57					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569936	22569936	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:22569936G>A	ENST00000510882.2	+	1	142	c.132G>A	c.(130-132)ggG>ggA	p.G44G	HDGFL1_ENST00000230012.3_Silent_p.G44G			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	44	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TTTTCTTCGGGACCCACGAGA	0.607000													38	27					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801424	148801424	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:148801424G>A	ENST00000378061.2	-	4	1671	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	513					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGTGCTGCGTGAGCCGCGACT	0.637000													12	89					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357199	104357199	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:104357199C>T	ENST00000374806.1	-	1	84	c.14G>A	c.(13-15)gGa>gAa	p.G5E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	2							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GGCCTCGTTTCCCATTGTGGA	0.587000													40	36					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263251	34263251	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:34263251G>A	ENST00000262622.3	+	4	1316	c.558G>A	c.(556-558)gtG>gtA	p.V186V	CHST8_ENST00000438847.2_Silent_p.V186V|CHST8_ENST00000434302.1_Silent_p.V186V	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	186					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GTATCTTCGTGGAGGACCGCC	0.701000													39	47					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008252	16008252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:16008252C>T	ENST00000221700.5	-	2	265	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F2_ENST00000592328.1_Missense_Mutation_p.R57Q|CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	57					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAACCAGTTCCGTCTTGGGGG	0.617000													40	49					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547953	19547953	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:19547953C>T	ENST00000396212.2	+	5	1398	c.962C>T	c.(961-963)tCg>tTg	p.S321L	CCP110_ENST00000381396.5_Missense_Mutation_p.S321L|CCP110_ENST00000396208.2_Missense_Mutation_p.S321L	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	321					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						GCTAGCTTTTCGAAAGTGGAC	0.383000													26	24					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228335363	228335363	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:228335363G>A	ENST00000366718.1	+	6	865	c.438G>A	c.(436-438)gtG>gtA	p.V146V	GUK1_ENST00000366721.1_Silent_p.V148V|GUK1_ENST00000470040.1_Intron|GUK1_ENST00000366722.1_Silent_p.V144V|GUK1_ENST00000391865.3_Silent_p.V167V|GUK1_ENST00000366726.1_Silent_p.V146V|GUK1_ENST00000366728.2_Silent_p.V167V|GUK1_ENST00000366730.1_Silent_p.V146V|GUK1_ENST00000366723.1_Silent_p.V167V|GUK1_ENST00000366716.1_Silent_p.V146V|GUK1_ENST00000312726.4_Silent_p.V146V	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	146	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				AGAGCCTGGTGAAGCGGCTGG	0.647000													4	75					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816005	31816005	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:31816005A>G	ENST00000446923.2	+	9	3531	c.3140A>G	c.(3139-3141)gAg>gGg	p.E1047G	ZEB1_ENST00000542815.3_Missense_Mutation_p.E996G|ZEB1_ENST00000560721.2_Missense_Mutation_p.E1043G|ZEB1_ENST00000320985.10_Missense_Mutation_p.E1063G|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1064G	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1063	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				caaggggatgaggaagaggag	0.448000													5	0					0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	99896856	99896856	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:99896856G>C	ENST00000403766.3	+	4	502	c.367G>C	c.(367-369)Gct>Cct	p.A123P	UBAC2_ENST00000376440.2_Intron	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	123						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCACTGCAGCTAGTAATTT	0.333000													8	16					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112676911	112676911	+	Silent	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:112676911G>A	ENST00000550722.1	-	34	5192	c.4797C>T	c.(4795-4797)gcC>gcT	p.A1599A	HECTD4_ENST00000377560.5_Silent_p.A1573A|HECTD4_ENST00000430131.2_Silent_p.A1323A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGGCAGCCCAGGCCATGGTGG	0.527000													25	28					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48193070	48193070	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:48193070G>A	ENST00000330175.4	-	7	997	c.680C>T	c.(679-681)tCc>tTc	p.S227F	SAMD14_ENST00000503131.1_Missense_Mutation_p.S227F	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	227										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGACCTGCCGGACCCCTCCAC	0.662000													61	76					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccfs	p.P231fs	DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													9	1171	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11994579	11994580	+	RNA	DEL	TG	TG	-			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:11994579_11994580delTG	ENST00000434078.2	+	0	608					NR_027425.1																						TGTTCgtgtttgtgtgtgtgtg	0.505													2	4	---	---	---	---					
MFAP4	4239	broad.mit.edu	37	17	19290123	19290125	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:19290123_19290125delAGC	ENST00000395592.2	-	2	176_178	c.105_107delGCT	c.(103-108)ctt>ct	p.LL35del	MFAP4_ENST00000299610.4_In_Frame_Del_p.LL11del|MFAP4_ENST00000497081.2_In_Frame_Del_p.LL36del	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	11	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGTGGAGAGAAGCAGCAGCAGCG	0.655													2	4	---	---	---	---					
