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
TKTL2	84076	broad.mit.edu	37	4	164394754	164394754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:164394754C>T	ENST00000280605.3	-	1	293	c.133G>A	c.(133-135)Gca>Aca	p.A45T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	45						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCTCCGCTGCACTGCAGCAC	0.602000													12	44					0	0	0.010729	0	0
OTOF	9381	broad.mit.edu	37	2	26703149	26703149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:26703149G>A	ENST00000272371.2	-	16	1960	c.1834C>T	c.(1834-1836)Ctc>Ttc	p.L612F	OTOF_ENST00000403946.3_Missense_Mutation_p.L612F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	612					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCAAAGAGAAAGAATTCT	0.572000													55	65					0	0	0.014410	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813822	100813822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:100813822C>T	ENST00000323346.5	+	12	1968	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.S502F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	552					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAGCCACCTCCCAGAATTGT	0.453000													11	31					0	0	0.010729	0	0
ZNF676	163223	broad.mit.edu	37	19	22362810	22362810	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22362810A>T	ENST00000397121.2	-	3	2026	c.1709T>A	c.(1708-1710)tTt>tAt	p.F570Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGATGACTTAAAAGCTTTGCC	0.388000													37	53					0	0	0.005524	0	0
ZNF646	9726	broad.mit.edu	37	16	31090315	31090315	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:31090315C>T	ENST00000394979.2	+	1	3093	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	ZNF646_ENST00000300850.5_Silent_p.F890F			O15015	ZN646_HUMAN	zinc finger protein 646	890					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCATGATCTTCCCTGGGCGGG	0.642000													28	69					0	0	0.006320	0	0
PDE1B	5153	broad.mit.edu	37	12	54969364	54969364	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:54969364C>T	ENST00000243052.3	+	12	1651	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Silent_p.P364P|PDE1B_ENST00000550620.1_Silent_p.P385P|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	405	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGGGCCTGCCCTTTTCTCCAC	0.572000													49	173					0	0	0.014410	0	0
SLC28A1	9154	broad.mit.edu	37	15	85447433	85447433	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:85447433C>T	ENST00000394573.1	+	7	769	c.567C>T	c.(565-567)gtC>gtT	p.V189V	SLC28A1_ENST00000538177.1_Silent_p.V189V|SLC28A1_ENST00000537624.1_Silent_p.V189V|SLC28A1_ENST00000286749.3_Silent_p.V189V|SLC28A1_ENST00000537703.1_Silent_p.V111V|SLC28A1_ENST00000537216.1_Silent_p.V189V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	189			V -> I (in A; dbSNP:rs2290272).		nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCGTGTTCGTCGCTCTCCTCT	0.592000													59	180					0	0	0.014410	0	0
ANAPC4	29945	broad.mit.edu	37	4	25419792	25419792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:25419792C>T	ENST00000315368.3	+	29	2357	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R740C	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	739					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTCAAATCTTCGTCATGTGAG	0.328000													30	137					0	0	0.008361	0	0
HAUS6	54801	broad.mit.edu	37	9	19083038	19083038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:19083038G>A	ENST00000380502.3	-	8	1170	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	HAUS6_ENST00000380496.1_Missense_Mutation_p.R99W	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	235					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACAAAGACCGAACCTTTGGA	0.328000													20	49					0	0	0.003330	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998046	56998046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:56998046G>A	ENST00000179765.5	-	17	3102	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F	BAZ2A_ENST00000549884.1_Missense_Mutation_p.S998F|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S1000F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S970F			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1000					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTGTAGCTGGACATACTCTC	0.522000													7	21					0	0	0.006214	0	0
OXTR	5021	broad.mit.edu	37	3	8809555	8809555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:8809555C>T	ENST00000316793.3	-	3	943	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	107					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AGGTCGGGCCCGTAGAAGCGG	0.612000													29	30					0	0	0.013726	0	0
ASTN2	23245	broad.mit.edu	37	9	119903704	119903704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:119903704C>T	ENST00000313400.4	-	4	1169	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.E357K|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	357						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGAAACTCTCCTTGAACTTC	0.592000													13	50					0	0	0.003163	0	0
WSCD2	9671	broad.mit.edu	37	12	108642090	108642090	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:108642090G>A	ENST00000332082.4	+	10	2486	c.1668G>A	c.(1666-1668)acG>acA	p.T556T	WSCD2_ENST00000547525.1_Silent_p.T556T|WSCD2_ENST00000261400.3_Silent_p.T576T|WSCD2_ENST00000549903.1_Silent_p.T576T			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	556						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGAACCTAACGGGTGTCCCCG	0.587000													21	49					0	0	0.012319	0	0
SLC26A6	65010	broad.mit.edu	37	3	48663784	48663784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48663784G>A	ENST00000358747.6	-	19	2319	c.2069C>T	c.(2068-2070)cCt>cTt	p.P690L	SLC26A6_ENST00000455886.2_Missense_Mutation_p.P675L|SLC26A6_ENST00000420764.2_Missense_Mutation_p.P710L|SLC26A6_ENST00000395550.2_Missense_Mutation_p.P711L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.P692L|SLC26A6_ENST00000337000.8_Missense_Mutation_p.P603L	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCTGACCACAGGGCCTGTGGG	0.562000													34	117					0	0	0.003755	0	0
C3orf56	285311	broad.mit.edu	37	3	126915578	126915578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126915578C>T	ENST00000398112.1	+	2	290	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GTCCGCCGTGCCTTCGAGGCC	0.607000													9	29					0	0	0.006214	0	0
TRIM37	4591	broad.mit.edu	37	17	57134298	57134298	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57134298G>A	ENST00000376149.3	-	13	1580	c.771C>T	c.(769-771)ttC>ttT	p.F257F	TRIM37_ENST00000393066.3_Silent_p.F379F|TRIM37_ENST00000262294.7_Silent_p.F379F|TRIM37_ENST00000393065.2_Silent_p.F345F			O94972	TRI37_HUMAN	tripartite motif containing 37	379						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTCCAAACGGAAAAATCTAT	0.353000									Mulibrey Nanism				23	116					0	0	0.003330	0	0
BAHD1	22893	broad.mit.edu	37	15	40750911	40750911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:40750911C>T	ENST00000561234.1	+	2	507	c.248C>T	c.(247-249)cCc>cTc	p.P83L	BAHD1_ENST00000416165.1_Missense_Mutation_p.P83L|BAHD1_ENST00000560846.1_Missense_Mutation_p.P83L			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	83					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTGGCCGGTCCCCGGAGTGCA	0.647000													34	110					0	0	0.003271	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168182	1168182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1168182C>T	ENST00000379198.2	+	1	554	c.524C>T	c.(523-525)cCc>cTc	p.P175L		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	175					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		gcccgcgagcccgcgcgccgc	0.751000													7	10					0	0	0.001984	0	0
CCDC60	160777	broad.mit.edu	37	12	119942973	119942973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:119942973C>T	ENST00000327554.2	+	7	1213	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	250										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGTCCTCTCCCCAGAGCAG	0.567000													49	133					0	0	0.014410	0	0
IFNA7	3444	broad.mit.edu	37	9	21202135	21202135	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:21202135G>A	ENST00000239347.3	-	1	69	c.30C>T	c.(28-30)gtC>gtT	p.V10V		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	10				V -> A (in Ref. 3; AAA36039).	blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTACCAGCACGACCATCAGTA	0.512000													24	57					0	0	0.003954	0	0
SCAND3	114821	broad.mit.edu	37	6	28541528	28541528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28541528C>T	ENST00000452236.2	-	4	2755	c.2138G>A	c.(2137-2139)aGa>aAa	p.R713K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	713					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						gttaacatttcttttattact	0.323000													8	17					0	0	0.003080	0	0
CEBPZ	10153	broad.mit.edu	37	2	37443540	37443540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:37443540C>T	ENST00000234170.5	-	7	2375	c.2230G>A	c.(2230-2232)Ggg>Agg	p.G744R		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	744					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGTGGGTCCCCTGAATACTGA	0.358000													55	143					0	0	0.014410	0	0
SELRC1	65260	broad.mit.edu	37	1	53153720	53153720	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:53153720A>C	ENST00000371538.3	-	3	407	c.368T>G	c.(367-369)gTt>gGt	p.V123G	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	123							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						ATCCTCATTAACCTGTCCATC	0.527000													44	107					0	0	0.008740	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040318	16040318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:16040318G>A	ENST00000326742.7	-	2	293	c.292C>T	c.(292-294)Ctc>Ttc	p.L98F	CYP4F11_ENST00000248041.7_Missense_Mutation_p.L98F|CYP4F11_ENST00000402119.3_Missense_Mutation_p.L98F			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	98					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAATGAGGAGGGGGAAGGTA	0.552000													69	370					0	0	0.014410	0	0
CAMK2B	816	broad.mit.edu	37	7	44282236	44282236	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:44282236G>A	ENST00000395749.2	-	9	695	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	CAMK2B_ENST00000440254.2_Silent_p.L207L|CAMK2B_ENST00000395747.2_Silent_p.L207L|CAMK2B_ENST00000358707.3_Silent_p.L207L|CAMK2B_ENST00000502837.2_Silent_p.L78L|CAMK2B_ENST00000353625.4_Silent_p.L207L|CAMK2B_ENST00000457475.1_Silent_p.L207L|CAMK2B_ENST00000350811.3_Silent_p.L207L|CAMK2B_ENST00000346990.4_Silent_p.L207L|CAMK2B_ENST00000347193.4_Silent_p.L207L|CAMK2B_ENST00000258682.6_Silent_p.L207L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	207	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCCACGAGCAGGATGTACAGG	0.627000													10	18					0	0	0.010729	0	0
TEAD4	7004	broad.mit.edu	37	12	3121375	3121375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:3121375C>T	ENST00000359864.2	+	5	521	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Missense_Mutation_p.R111C	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	111					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCGCAAAGCTCGCGAGATCCA	0.607000													20	51					0	0	0.010504	0	0
KIAA1109	84162	broad.mit.edu	37	4	123145765	123145765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:123145765C>T	ENST00000264501.4	+	23	3099	c.2726C>T	c.(2725-2727)tCc>tTc	p.S909F	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S909F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S909F			Q2LD37	K1109_HUMAN	KIAA1109	909					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAAGCGATTCCTTAGAATAC	0.463000													16	67					0	0	0.003163	0	0
DMBX1	127343	broad.mit.edu	37	1	46976664	46976664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:46976664G>A	ENST00000371956.4	+	3	421	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	DMBX1_ENST00000360032.3_Missense_Mutation_p.E131K	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	136	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTGCAGAAGGAACAGCTCCA	0.627000													35	78					0	0	0.013726	0	0
TONSL	4796	broad.mit.edu	37	8	145659461	145659461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145659461G>A	ENST00000409379.3	-	21	3316	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1096					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTGGGCATGGTGCCCAGGGC	0.687000													13	47					0	0	0.001855	0	0
TNXB	7148	broad.mit.edu	37	6	32035464	32035464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32035464C>T	ENST00000375244.3	-	18	6719	c.6518G>A	c.(6517-6519)gGc>gAc	p.G2173D	TNXB_ENST00000375247.2_Missense_Mutation_p.G2173D			P22105	TENX_HUMAN	tenascin XB	2245	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGACACTGGGCCCACGCGCCG	0.647000													58	211					0	0	0.014410	0	0
CASR	846	broad.mit.edu	37	3	122003412	122003412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122003412G>A	ENST00000498619.1	+	7	3079	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	CASR_ENST00000490131.1_Missense_Mutation_p.E871K|CASR_ENST00000296154.5_Missense_Mutation_p.E871K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	871	Interaction with RNF19A.		F -> L (in FHH; mutant CASR has a right- shifted dose-response to extracellular calcium concentrations; activated by a higher calcium concentrations than the wild-type).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACCATCGAGGAGGTGCGTTG	0.607000													59	54					0	0	0.014410	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835165	24835165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:24835165C>T	ENST00000376454.3	+	21	5774	c.5744C>T	c.(5743-5745)aCc>aTc	p.T1915I	KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T1236I|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T1321I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T1346I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1915					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGCACCAGGACCATCCATACT	0.527000													25	50					0	0	0.004656	0	0
APBA1	320	broad.mit.edu	37	9	72131527	72131527	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:72131527C>T	ENST00000265381.4	-	2	822	c.600G>A	c.(598-600)gaG>gaA	p.E200E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	200					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGTCCCCTATCTCCTCGTACA	0.716000													15	32					0	0	0.004007	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120004	142120004	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142120004G>A	ENST00000390377.1	-	0	162																											AGGGCCTGTTGATACCAATAA	0.502000													24	69					0	0	0.002780	0	0
DMXL2	23312	broad.mit.edu	37	15	51741329	51741329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:51741329G>A	ENST00000251076.5	-	43	9250	c.8963C>T	c.(8962-8964)tCc>tTc	p.S2988F	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2989F|DMXL2_ENST00000449909.3_Missense_Mutation_p.S2352F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2988						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCGAAATATGGACTGCTTAGC	0.428000													24	82					0	0	0.003330	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109466	151109466	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:151109466G>A	ENST00000341697.3	-	11	2532	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	281	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGAAGCTTCAGGAAGGATGTC	0.582000													144	257					0	0	0.014410	0	0
CDH6	1004	broad.mit.edu	37	5	31299721	31299721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:31299721C>T	ENST00000265071.2	+	5	1059	c.794C>T	c.(793-795)cCt>cTt	p.P265L	CDH6_ENST00000514738.1_Missense_Mutation_p.P210L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	265	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACGACAACCCTCCCCGATTC	0.428000													25	53					0	0	0.006320	0	0
HTR3D	200909	broad.mit.edu	37	3	183755963	183755963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:183755963G>A	ENST00000382489.3	+	6	815	c.815G>A	c.(814-816)aGc>aAc	p.S272N	HTR3D_ENST00000428798.2_Missense_Mutation_p.S224N|HTR3D_ENST00000453435.1_Missense_Mutation_p.S53N|HTR3D_ENST00000334128.2_Missense_Mutation_p.S99N	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	272						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGGGCTACAGCGTCTTCCTG	0.507000													62	93					0	0	0.014410	0	0
IRX2	153572	broad.mit.edu	37	5	2749629	2749629	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:2749629C>T	ENST00000382611.6	-	2	770	c.522G>A	c.(520-522)aaG>aaA	p.K174K	IRX2_ENST00000302057.5_Silent_p.K174K|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCTTGTTCTCCTTCTTGAGGC	0.602000													75	186					0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79387520	79387520	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:79387520G>A	ENST00000264895.6	+	50	7628	c.7188G>A	c.(7186-7188)aaG>aaA	p.K2396K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2395					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCCCTCAAGGACCGGTTCA	0.532000													19	42					0	0	0.007413	0	0
DGKB	1607	broad.mit.edu	37	7	14775762	14775762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:14775762G>A	ENST00000403951.2	-	5	645	c.226C>T	c.(226-228)Cct>Tct	p.P76S	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.P69S|DGKB_ENST00000406247.3_Missense_Mutation_p.P76S|DGKB_ENST00000444700.2_Missense_Mutation_p.P69S|DGKB_ENST00000399322.3_Missense_Mutation_p.P76S|DGKB_ENST00000258767.5_Missense_Mutation_p.P76S|DGKB_ENST00000402815.1_Missense_Mutation_p.P76S			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	76					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)	AAATCATCAGGAAGCTCGGCT	0.368000													5	32					0	0	0.001168	0	0
DGKQ	1609	broad.mit.edu	37	4	961348	961348	+	Missense_Mutation	SNP	C	C	T	rs146401678		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:961348C>T	ENST00000273814.3	-	8	1049	c.976G>A	c.(976-978)Gag>Aag	p.E326K		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	326					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCACCTCCTCGGCACCGGCC	0.682000													33	63					0	0	0.004878	0	0
CHN1	1123	broad.mit.edu	37	2	175742774	175742774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:175742774C>T	ENST00000409900.3	-	6	656	c.343G>A	c.(343-345)Gat>Aat	p.D115N	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.D115N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	115	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GTCACCAGATCGTGGATGGAC	0.438000			T	TAF15	extraskeletal myxoid chondrosarcoma								32	79					0	0	0.009535	0	0
LALBA	3906	broad.mit.edu	37	12	48962901	48962901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:48962901G>A	ENST00000549817.1	-	2	301	c.256C>T	c.(256-258)Cct>Tct	p.P86S	LALBA_ENST00000301046.2_Missense_Mutation_p.P86S			P00709	LALBA_HUMAN	lactalbumin, alpha-	86					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CTTGACTGAGGGACCTGGCTG	0.463000													31	102					0	0	0.012213	0	0
COL18A1	80781	broad.mit.edu	37	21	46916462	46916462	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46916462A>T	ENST00000359759.4	+	29	3823	c.3802A>T	c.(3802-3804)Act>Tct	p.T1268S	COL18A1_ENST00000355480.5_Missense_Mutation_p.T1033S|COL18A1_ENST00000400337.2_Missense_Mutation_p.T853S|COL18A1_ENST00000459895.1_3'UTR			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1268	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCTCCAGGGACTCCTGTTTA	0.647000													49	137					0	0	0.014410	0	0
RNF217	154214	broad.mit.edu	37	6	125397950	125397950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:125397950C>T	ENST00000521654.2	+	4	1429	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	RNF217_ENST00000359704.2_Missense_Mutation_p.R185C|RNF217_ENST00000275184.6_Missense_Mutation_p.R121C|RNF217_ENST00000560949.1_Missense_Mutation_p.R242C|RNF217_ENST00000368414.2_Missense_Mutation_p.R39C			Q8TC41	RN217_HUMAN	ring finger protein 217	185					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATGCAAATATCGCTACCTCCC	0.438000													29	45					0	0	0.010818	0	0
KRT10	3858	broad.mit.edu	37	17	38978535	38978535	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38978535G>A	ENST00000269576.5	-	1	312	c.303C>T	c.(301-303)atC>atT	p.I101I	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	101	Gly-rich.|Head.		I -> S (in dbSNP:rs4261597).		epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CCCCTCCAAAGATGCCTCCAT	0.572000													46	125					0	0	0.014410	0	0
FLNA	2316	broad.mit.edu	37	X	153594953	153594953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:153594953G>A	ENST00000422373.1	-	7	1290	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	FLNA_ENST00000344736.4_Missense_Mutation_p.P348S|FLNA_ENST00000360319.4_Missense_Mutation_p.P348S|FLNA_ENST00000369850.3_Missense_Mutation_p.P348S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	348					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCACCTCGGGGACGTACCAG	0.632000													66	87					0	0	0.014410	0	0
MVP	9961	broad.mit.edu	37	16	29853076	29853076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:29853076C>T	ENST00000357402.5	+	9	1489	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	MVP_ENST00000395353.1_Missense_Mutation_p.P451S|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	451					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCCTTGGCGCCCCGGAACAA	0.657000													8	35					0	0	0.004482	0	0
COL20A1	57642	broad.mit.edu	37	20	61939428	61939428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:61939428G>A	ENST00000422202.1	+	6	850	c.782G>A	c.(781-783)gGg>gAg	p.G261E	COL20A1_ENST00000358894.6_Missense_Mutation_p.G254E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G254E|COL20A1_ENST00000435874.1_Missense_Mutation_p.G261E			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	254	VWFA.				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)					TACAAGGGGGGGAACACGTTC	0.627000													13	66					0	0	0.003163	0	0
OR10H3	26532	broad.mit.edu	37	19	15852409	15852409	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15852409C>T	ENST00000305892.1	+	1	207	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCCTCTCCATCTCTGAGATTC	0.502000													106	480					0	0	0.014410	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146651022	146651022	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:146651022C>T	ENST00000607149.1	+	0	350																											TGTGCCTTCTCCATATGAAGT	0.418000													49	73					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9089200	9089200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9089200G>A	ENST00000397910.4	-	1	2818	c.2615C>T	c.(2614-2616)cCa>cTa	p.P872L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	872	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						AGACACAGATGGATTCGAAGT	0.488000													23	48					0	0	0.014323	0	0
MEIS2	4212	broad.mit.edu	37	15	37329079	37329079	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:37329079T>C	ENST00000338564.5	-	9	1282	c.836A>G	c.(835-837)aAa>aGa	p.K279R	MEIS2_ENST00000382766.2_Missense_Mutation_p.K279R|MEIS2_ENST00000397620.2_Missense_Mutation_p.K191R|MEIS2_ENST00000340545.5_Missense_Mutation_p.K266R|MEIS2_ENST00000559085.1_Missense_Mutation_p.K266R|MEIS2_ENST00000561208.1_Missense_Mutation_p.K279R|MEIS2_ENST00000397624.3_Missense_Mutation_p.K191R|MEIS2_ENST00000424352.2_Missense_Mutation_p.K279R|MEIS2_ENST00000219869.9_Missense_Mutation_p.K133R|MEIS2_ENST00000444725.1_Missense_Mutation_p.K279R|MEIS2_ENST00000557796.2_Missense_Mutation_p.K266R|MEIS2_ENST00000559561.1_Missense_Mutation_p.K279R	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	279					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AATGCCTCTTTTCTTCTGGCG	0.388000													33	83					0	0	0.013726	0	0
KLF15	28999	broad.mit.edu	37	3	126071118	126071118	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126071118G>A	ENST00000296233.3	-	2	878	c.648C>T	c.(646-648)ccC>ccT	p.P216P		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	216						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		ACACTGGGATGGGGCCATCAG	0.677000													13	25					0	0	0.002450	0	0
TOP2A	7153	broad.mit.edu	37	17	38563094	38563094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38563094G>A	ENST00000423485.1	-	14	1885	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	576					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTTTACAATGGGAGTGATAAA	0.418000													9	17					0	0	0.004482	0	0
IRX1	79192	broad.mit.edu	37	5	3599405	3599405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:3599405C>T	ENST00000302006.3	+	2	395	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	115						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCACACGGCGCCGGCTTATTA	0.652000													33	76					0	0	0.004289	0	0
HERC2	8924	broad.mit.edu	37	15	28458946	28458946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:28458946G>A	ENST00000261609.7	-	42	6836	c.6728C>T	c.(6727-6729)aCc>aTc	p.T2243I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2243					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACTGCACGGTGATTTTGCC	0.512000													33	139					0	0	0.006999	0	0
NHS	4810	broad.mit.edu	37	X	17746877	17746877	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:17746877T>C	ENST00000380060.3	+	7	4606	c.4268T>C	c.(4267-4269)tTa>tCa	p.L1423S	NHS_ENST00000398097.3_Missense_Mutation_p.L1267S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1423						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACTGAGGATTTATTTGCAGTC	0.448000													49	59					0	0	0.014410	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307647	39307647	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:39307647G>A	ENST00000541347.1	-	2	593	c.354C>T	c.(352-354)ttC>ttT	p.F118F	CX3CR1_ENST00000358309.3_Silent_p.F150F|CX3CR1_ENST00000399220.2_Silent_p.F118F|CX3CR1_ENST00000542107.1_Silent_p.F118F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	118					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CGGTGATGAAGAATATGCTTC	0.498000													99	142					0	0	0.014410	0	0
NOL4	8715	broad.mit.edu	37	18	31523038	31523038	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:31523038C>T	ENST00000261592.5	-	9	1830	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	NOL4_ENST00000535384.1_Silent_p.E226E|NOL4_ENST00000535475.1_Silent_p.E292E|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.E437E|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	511						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCTGCTGTCTCTCCAGACGCA	0.438000													15	19					0	0	0.006122	0	0
IVD	3712	broad.mit.edu	37	15	40710397	40710397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:40710397G>A	ENST00000249760.2	+	12	1550	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	IVD_ENST00000479013.2_Missense_Mutation_p.G376R|IVD_ENST00000487418.2_Missense_Mutation_p.G406R	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	403					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GTATGAGATAGGGGCTGGGAC	0.557000													45	120					0	0	0.013114	0	0
AMPH	273	broad.mit.edu	37	7	38500937	38500937	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:38500937G>A	ENST00000356264.2	-	11	1178	c.963C>T	c.(961-963)atC>atT	p.I321I	AMPH_ENST00000428293.2_Silent_p.I321I|AMPH_ENST00000325590.5_Silent_p.I321I	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	321					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CAAAGAAACTGATGATGTTCT	0.468000													26	118					0	0	0.007291	0	0
C10ORF32	119032	broad.mit.edu	37	10	104620124	104620124	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:104620124G>A	ENST00000299353.6	+	2	192	c.177G>A	c.(175-177)caG>caA	p.Q59Q	C10orf32_ENST00000369883.3_Silent_p.Q59Q|C10orf32_ENST00000339834.5_Silent_p.Q59Q																							TGGTACTCCAGGAAGATGCCA	0.383000													27	22					0	0	0.003271	0	0
PLCH2	9651	broad.mit.edu	37	1	2415968	2415968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2415968G>A	ENST00000449969.1	+	5	807	c.646G>A	c.(646-648)Gac>Aac	p.D216N	PLCH2_ENST00000378486.3_Missense_Mutation_p.D243N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D243N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D243N|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	243	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CACCCGCCGGGACCTCTACCT	0.597000													21	50					0	0	0.014323	0	0
ERAL1	26284	broad.mit.edu	37	17	27183392	27183392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:27183392C>T	ENST00000254928.5	+	2	491	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	132	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ACTCTCCAACCAGCTACTGGG	0.537000													71	208					0	0	0.014410	0	0
FBXO24	26261	broad.mit.edu	37	7	100192111	100192111	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100192111A>G	ENST00000241071.6	+	6	1221	c.899A>G	c.(898-900)cAc>cGc	p.H300R	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.H286R|FBXO24_ENST00000465843.1_Missense_Mutation_p.H286R|FBXO24_ENST00000427939.2_Missense_Mutation_p.H338R|FBXO24_ENST00000468962.1_Missense_Mutation_p.H288R|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	300						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TACCTGCCTCACCTGCGCGTG	0.597000													24	71					0	0	0.014323	0	0
ZNF679	168417	broad.mit.edu	37	7	63726757	63726757	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:63726757T>A	ENST00000421025.1	+	5	1015	c.746T>A	c.(745-747)tTt>tAt	p.F249Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.F249Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGCAAAGCTTTTACCTGGTCC	0.433000													5	32					0	0	0.001984	0	0
AFP	174	broad.mit.edu	37	4	74318255	74318255	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:74318255C>T	ENST00000395792.2	+	12	1666	c.1566C>T	c.(1564-1566)gtC>gtT	p.V522V	AFP_ENST00000226359.2_Silent_p.V522V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	522	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACATATGTCCCTCCTGCAT	0.468000									Alpha-Fetoprotein, Hereditary Persistence of				8	57					0	0	0.004482	0	0
OR5D13	390142	broad.mit.edu	37	11	55541558	55541558	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55541558C>T	ENST00000361760.1	+	1	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACAT	0.438000													19	41					0	0	0.010504	0	0
USP10	9100	broad.mit.edu	37	16	84778881	84778881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:84778881C>T	ENST00000219473.7	+	4	907	c.794C>T	c.(793-795)tCa>tTa	p.S265L	USP10_ENST00000570191.1_Missense_Mutation_p.S269L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	265					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GACACCCTGTCAAGGACAGCT	0.592000													8	32					0	0	0.003080	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748745	126748745	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126748745C>T	ENST00000393409.2	+	27	4899	c.4899C>T	c.(4897-4899)ccC>ccT	p.P1633P	PLXNA1_ENST00000251772.4_Silent_p.P1610P	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1633					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCAGCAGCCCCGACAGCCTGC	0.701000													22	72					0	0	0.012319	0	0
STK38	11329	broad.mit.edu	37	6	36483160	36483160	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:36483160G>A	ENST00000229812.7	-	7	909	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	208	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGTGGATGAATCCAAGTT	0.428000													50	103					0	0	0.014410	0	0
DHX40	79665	broad.mit.edu	37	17	57684448	57684448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57684448C>T	ENST00000451169.2	+	21	2470	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	DHX40_ENST00000425628.3_Missense_Mutation_p.S675F|DHX40_ENST00000251241.4_Missense_Mutation_p.S752F			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	752							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATGACAAATCCATATCTGAT	0.413000													42	126					0	0	0.011902	0	0
JUP	3728	broad.mit.edu	37	17	39777872	39777872	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39777872C>T	ENST00000540235.1	-	7	1283	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	KRT17_ENST00000311208.8_Silent_p.K269K			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCTCGGCATCCTTGCGGTTCT	0.597000													52	160					0	0	0.014410	0	0
OPTC	26254	broad.mit.edu	37	1	203465352	203465352	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203465352C>T	ENST00000367222.2	+	2	335	c.219C>T	c.(217-219)gaC>gaT	p.D73D		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	73						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ATTATGGGGACCAACTCCCCG	0.552000													32	66					0	0	0.008361	0	0
TCHP	84260	broad.mit.edu	37	12	110352349	110352349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:110352349G>A	ENST00000312777.5	+	11	1451	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TCHP_ENST00000405876.4_Missense_Mutation_p.E413K	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	413	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						TCGAAATCTTGAGGAGGTGAG	0.522000													43	65					0	0	0.007835	0	0
ADAM30	11085	broad.mit.edu	37	1	120438357	120438357	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:120438357G>A	ENST00000369400.1	-	1	761	c.603C>T	c.(601-603)caC>caT	p.H201H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	201					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.H201H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGTACTTTGGGTGTTTATAGG	0.403000													243	948					0	0	0.014410	0	0
TGM7	116179	broad.mit.edu	37	15	43574732	43574732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43574732G>A	ENST00000452443.2	-	8	1095	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	364					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGTCTGCTGGGGAGTGGGGTC	0.597000													5	10					0	0	0.001168	0	0
IGHM	3507	broad.mit.edu	37	14	106321847	106321847	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106321847C>T	ENST00000390559.2	-	0	386																											TGAGCTTGGACTTGCGGGGGT	0.657000													25	55					0	0	0.003954	0	0
MYH2	4620	broad.mit.edu	37	17	10432295	10432295	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10432295G>A	ENST00000245503.5	-	27	3840	c.3456C>T	c.(3454-3456)atC>atT	p.I1152I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1152I|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1152					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						GCCTCTCGCTGATCTCCTCCA	0.622000													55	115					0	0	0.014410	0	0
SLIT3	6586	broad.mit.edu	37	5	168093669	168093669	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:168093669G>A	ENST00000519560.1	-	36	4781	c.4362C>T	c.(4360-4362)gtC>gtT	p.V1454V	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.V1461V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1454	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCTCTCGGACTACTTGTC	0.597000													35	66					0	0	0.006999	0	0
THPO	7066	broad.mit.edu	37	3	184090594	184090594	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:184090594T>C	ENST00000204615.7	-	6	983	c.769A>G	c.(769-771)Act>Gct	p.T257A	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.T253A|THPO_ENST00000421442.2_Missense_Mutation_p.N218S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	257					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTCCACGAGTTCCATTCAAG	0.567000													130	176					0	0	0.014410	0	0
NPAP1	23742	broad.mit.edu	37	15	24921462	24921462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:24921462G>A	ENST00000329468.2	+	1	922	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGAGGAGACCGAGGTGTGGGC	0.627000													27	72					0	0	0.010818	0	0
KCTD19	146212	broad.mit.edu	37	16	67325697	67325697	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67325697C>T	ENST00000304372.5	-	13	2317	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	754						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTAGGCTGTCCACCTCACTGG	0.517000													22	52					0	0	0.003330	0	0
ALOX12B	242	broad.mit.edu	37	17	7984078	7984078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7984078C>T	ENST00000319144.4	-	5	808	c.548G>A	c.(547-549)gGa>gAa	p.G183E	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	183	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AATTGGGAATCCCGGAATATA	0.602000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	113					0	0	0.014410	0	0
QRFPR	84109	broad.mit.edu	37	4	122250649	122250649	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:122250649C>T	ENST00000394427.2	-	6	1527	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	372						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACTTTGCTTTCTTCCGCATCA	0.388000													31	222					0	0	0.012213	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256413	15256413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:15256413C>T	ENST00000378116.4	-	8	1180	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	392						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCATCAGTTCCTTCGTGCCG	0.602000													55	76					0	0	0.014410	0	0
TANC2	26115	broad.mit.edu	37	17	61498783	61498783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:61498783C>T	ENST00000424789.2	+	25	5444	c.5440C>T	c.(5440-5442)Cct>Tct	p.P1814S	TANC2_ENST00000389520.4_Missense_Mutation_p.P1824S|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1814							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCCACTGAAACCTGCATATGA	0.537000													27	46					0	0	0.003954	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:80328367G>A	ENST00000358842.3	-	1	1005	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	330					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGCCAACGAATAACAGCA	0.428000													40	120					0	0	0.008740	0	0
FAM83E	54854	broad.mit.edu	37	19	49107049	49107049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:49107049G>A	ENST00000263266.3	-	4	1067	c.878C>T	c.(877-879)cCt>cTt	p.P293L		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	293										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGGGCGCAGGTGGGAGCGG	0.721000													12	16					0	0	0.010729	0	0
MED13L	23389	broad.mit.edu	37	12	116457155	116457155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:116457155G>A	ENST00000281928.3	-	7	1089	c.883C>T	c.(883-885)Cct>Tct	p.P295S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	295				PQSVA -> SISLI (in Ref. 5; BAA82977).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACACTCTGAGGAACCGGGATG	0.507000													24	68					0	0	0.006320	0	0
ARAP2	116984	broad.mit.edu	37	4	36168570	36168570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:36168570G>A	ENST00000303965.4	-	10	2446	c.1957C>T	c.(1957-1959)Ccc>Tcc	p.P653S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	653	PH 2.				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						CTCCTGTAGGGAGTGATTATT	0.358000													8	45					0	0	0.003080	0	0
PLCB1	23236	broad.mit.edu	37	20	8782748	8782748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8782748C>T	ENST00000378641.3	+	32	3944	c.3469C>T	c.(3469-3471)Ccc>Tcc	p.P1157S	PLCB1_ENST00000378637.2_Missense_Mutation_p.P1157S|PLCB1_ENST00000338037.6_Intron	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCATGAGGATCCCTCTGTTTC	0.512000													28	56					0	0	0.010818	0	0
DNAH14	127602	broad.mit.edu	37	1	225142737	225142737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:225142737G>A	ENST00000430092.1	+	3	369	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	DNAH14_ENST00000366850.3_Missense_Mutation_p.E52K|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000400952.3_Missense_Mutation_p.E52K|DNAH14_ENST00000439375.2_Missense_Mutation_p.E52K|DNAH14_ENST00000366848.1_Missense_Mutation_p.E52K|DNAH14_ENST00000366849.1_Missense_Mutation_p.E52K	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	229					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGCAGAAAAGGAAACATTGGA	0.299000													47	113					0	0	0.014410	0	0
MGAT3	4248	broad.mit.edu	37	22	39884213	39884213	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:39884213C>T	ENST00000341184.6	+	2	1076	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	287					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCTGGATCGCCGACGACT	0.647000													85	264					0	0	0.014410	0	0
OR4S1	256148	broad.mit.edu	37	11	48328225	48328225	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48328225T>A	ENST00000319988.1	+	1	451	c.451T>A	c.(451-453)Ttc>Atc	p.F151I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GTTAGCTGGCTTCCTGCATTC	0.557000													50	65					0	0	0.014410	0	0
RAB5A	5868	broad.mit.edu	37	3	20017217	20017217	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:20017217C>T	ENST00000273047.4	+	3	824	c.288C>T	c.(286-288)gcC>gcT	p.A96A	RAB5A_ENST00000422242.1_Silent_p.A82A	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	96					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						CACAAGCAGCCATAGTTGTAT	0.378000													27	97					0	0	0.006320	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48898789	48898789	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:48898789G>A	ENST00000394754.1	+	10	3525	c.3411G>A	c.(3409-3411)acG>acA	p.T1137T	STON1-GTF2A1L_ENST00000309827.2_Silent_p.T1137T|GTF2A1L_ENST00000430487.2_Silent_p.T399T|STON1-GTF2A1L_ENST00000405008.1_Silent_p.T1137T|GTF2A1L_ENST00000403751.3_Silent_p.T433T|STON1-GTF2A1L_ENST00000402114.2_Silent_p.T1137T|STON1-GTF2A1L_ENST00000394751.3_Silent_p.T1090T	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1090					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTTTGACACGGATAATGTTA	0.348000													28	128					0	0	0.003755	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172237	21172237	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21172237G>A	ENST00000421593.2	+	2	141	c.141G>A	c.(139-141)ccG>ccA	p.P47P	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)									p.P47P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACACAGACCGAAGTTAATTG	0.328000													16	35					0	0	0.003163	0	0
MEI1	150365	broad.mit.edu	37	22	42172184	42172184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:42172184G>A	ENST00000401548.3	+	21	2663	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.D243N|MEI1_ENST00000540880.1_Missense_Mutation_p.D193N	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	875							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGGAATGAGGATATCCAAGT	0.562000													45	109					0	0	0.013114	0	0
KLHL14	57565	broad.mit.edu	37	18	30260388	30260388	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:30260388C>T	ENST00000359358.4	-	6	1851	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	471						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTATATTTTCCCATTGTGCA	0.458000													32	53					0	0	0.012213	0	0
OSMR	9180	broad.mit.edu	37	5	38881752	38881752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:38881752G>A	ENST00000274276.3	+	4	706	c.304G>A	c.(304-306)Gag>Aag	p.E102K	OSMR_ENST00000502536.1_Missense_Mutation_p.E102K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	102					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTGGGAATCTGAGCTCCCTTT	0.463000													24	81					0	0	0.003330	0	0
SLC26A8	116369	broad.mit.edu	37	6	35945086	35945086	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:35945086C>T	ENST00000490799.1	-	9	1421	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	SLC26A8_ENST00000355574.2_Silent_p.K356K|SLC26A8_ENST00000394602.2_Silent_p.K251K	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	356					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTAAAATTATCTTGGGAAGAA	0.413000													39	126					0	0	0.009718	0	0
PNPLA6	10908	broad.mit.edu	37	19	7621579	7621579	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7621579C>T	ENST00000221249.6	+	29	3566	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	PNPLA6_ENST00000545201.2_Silent_p.I1018I|PNPLA6_ENST00000414982.3_Silent_p.I1093I|PNPLA6_ENST00000450331.3_Silent_p.I1045I|PNPLA6_ENST00000600737.1_Silent_p.I1083I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1084	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCACAGATATCACCGCCTCAG	0.667000													35	61					0	0	0.003271	0	0
FAM129A	116496	broad.mit.edu	37	1	184764306	184764306	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:184764306C>T	ENST00000367511.3	-	14	2785	c.2592G>A	c.(2590-2592)gaG>gaA	p.E864E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	864	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCCCTCCCATCTCTTCTTGTT	0.577000													44	141					0	0	0.009718	0	0
SPATC1	375686	broad.mit.edu	37	8	145095814	145095814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145095814C>T	ENST00000377470.3	+	3	1214	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	SPATC1_ENST00000447830.2_Missense_Mutation_p.S371F	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	371										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGCATAATTCCCCAACCCAG	0.642000													37	75					0	0	0.005524	0	0
DSTYK	25778	broad.mit.edu	37	1	205116799	205116799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205116799G>A	ENST00000367162.3	-	13	2707	c.2677C>T	c.(2677-2679)Ccc>Tcc	p.P893S	DSTYK_ENST00000367161.3_Missense_Mutation_p.P848S|DSTYK_ENST00000367160.4_Missense_Mutation_p.P552S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	893	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTCTTCAAGGGGTCGCCATCC	0.542000													68	139					0	0	0.014410	0	0
ATP1A4	480	broad.mit.edu	37	1	160143376	160143376	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160143376C>T	ENST00000368081.4	+	13	2331	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	620					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGGTGATCATGGTAACAG	0.527000													50	159					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179590353	179590353	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179590353G>A	ENST00000589042.1	-	71	20802	c.20578C>T	c.(20578-20580)Ctg>Ttg	p.L6860L	TTN_ENST00000591111.1_Silent_p.L6543L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L5616L|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6543	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCTGTTCAGTTTGGAGACA	0.438000													10	35					0	0	0.013537	0	0
FOXN4	121643	broad.mit.edu	37	12	109717605	109717605	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:109717605G>A	ENST00000299162.5	-	10	1529	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	FOXN4_ENST00000355216.1_Silent_p.S295S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	475					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						AGTCTGGGAAGGACTGGTCGC	0.642000													6	26					0	0	0.004482	0	0
FCGBP	8857	broad.mit.edu	37	19	40433120	40433120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:40433120C>T	ENST00000221347.6	-	2	1156	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	383	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCACAGCCTCCCAGGTGAGCT	0.617000													37	27					0	0	0.009718	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907726	164907726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164907726G>A	ENST00000475390.1	-	2	1336	c.893C>T	c.(892-894)tCg>tTg	p.S298L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S298L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	298						integral to membrane		p.S298L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACTTGATGACGAATGTGGAAT	0.433000										HNSCC(40;0.11)			96	127					0	0	0.014410	0	0
ZNF189	7743	broad.mit.edu	37	9	104171062	104171062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:104171062C>T	ENST00000374861.3	+	3	1254	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	ZNF189_ENST00000339664.2_Missense_Mutation_p.H338Y|ZNF189_ENST00000259395.4_Missense_Mutation_p.H296Y	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	338					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCAAAAAATTCACACTGGCGA	0.413000													26	86					0	0	0.003954	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961657	1961657	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1961657C>T	ENST00000454677.2	-	2	1079	c.1014G>A	c.(1012-1014)caG>caA	p.Q338Q	HS3ST6_ENST00000443547.1_Silent_p.Q290Q|HS3ST6_ENST00000293937.3_Silent_p.Q321Q			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	290										endometrium(2)|lung(2)	4						GGTAGAACTCCTGCAGGCGCC	0.692000													8	21					0	0	0.003080	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935123	155935123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:155935123G>A	ENST00000368316.1	-	10	940	c.470C>T	c.(469-471)aCc>aTc	p.T157I	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.T184I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.T157I|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.T185I|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.T184I			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	184					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACGGATAGGGTTCGGTTCCG	0.592000													42	94					0	0	0.014410	0	0
FCRL1	115350	broad.mit.edu	37	1	157789804	157789804	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:157789804C>T	ENST00000358292.3	-	1	75	c.24G>A	c.(22-24)ttG>ttA	p.L8L	FCRL1_ENST00000368176.3_Silent_p.L8L|FCRL1_ENST00000491942.1_Silent_p.L8L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	8						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACCACAGATCAACAGCAACA	0.527000													21	86					0	0	0.003330	0	0
DYSF	8291	broad.mit.edu	37	2	71778790	71778790	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:71778790G>A	ENST00000258104.3	+	19	1969	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	DYSF_ENST00000409582.3_Silent_p.L581L|DYSF_ENST00000409366.1_Silent_p.L565L|DYSF_ENST00000409762.1_Silent_p.L581L|DYSF_ENST00000413539.2_Silent_p.L595L|DYSF_ENST00000409651.1_Silent_p.L596L|DYSF_ENST00000409744.1_Silent_p.L551L|DYSF_ENST00000394120.2_Silent_p.L565L|DYSF_ENST00000429174.2_Silent_p.L564L|DYSF_ENST00000410041.1_Silent_p.L582L|DYSF_ENST00000410020.3_Silent_p.L582L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	564						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGACCAAGCTGGTGGAGCACA	0.652000													14	62					0	0	0.010504	0	0
MNT	4335	broad.mit.edu	37	17	2298631	2298631	+	Missense_Mutation	SNP	G	G	A	rs138518103		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:2298631G>A	ENST00000174618.4	-	2	596	c.191C>T	c.(190-192)cCc>cTc	p.P64L		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	64					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		cagaggcaggggtggCGCCTC	0.657000													38	56					0	0	0.010771	0	0
FGG	2266	broad.mit.edu	37	4	155528085	155528085	+	Missense_Mutation	SNP	G	G	C	rs121913087		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155528085G>C	ENST00000404648.3	-	8	1140	c.901C>G	c.(901-903)Cgc>Ggc	p.R301G	FGG_ENST00000336098.3_Missense_Mutation_p.R301G|FGG_ENST00000407946.1_Missense_Mutation_p.R309G|FGG_ENST00000405164.1_Missense_Mutation_p.R309G	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	301	Fibrinogen C-terminal.		R -> C (in Tochigi/Osaka-2/Milano-5/ Villajoyosa).|R -> H (in Bergamo-2/Essen/Haifa/Osaka-3/ Perugia/Saga/Barcelona-3/Barcelona-4).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATGTTAGGCGGTACTTGTCA	0.478000													34	64					0	0	0.003271	0	0
FZD7	8324	broad.mit.edu	37	2	202900792	202900792	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202900792C>T	ENST00000286201.1	+	1	1483	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	474					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCGGCGTCTTCAGCGTGCTCT	0.622000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	99					0	0	0.007835	0	0
KRT19	3880	broad.mit.edu	37	17	39684284	39684284	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39684284G>A	ENST00000361566.3	-	1	276	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCAGCCCGTCGGACGCGGTCA	0.716000													34	106					0	0	0.003271	0	0
IMPG2	50939	broad.mit.edu	37	3	100986371	100986371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:100986371G>A	ENST00000193391.7	-	9	1079	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	298	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTTCCTTGGGGGACCTGAAA	0.363000													23	96					0	0	0.005443	0	0
GDF6	392255	broad.mit.edu	37	8	97156938	97156938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:97156938C>T	ENST00000287020.5	-	2	1320	c.1221G>A	c.(1219-1221)atG>atA	p.M407I		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	407					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCATGGAGTTCATCAGCGTCT	0.612000													18	48					0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9076568	9076568	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9076568G>A	ENST00000397910.4	-	3	11081	c.10878C>T	c.(10876-10878)gaC>gaT	p.D3626D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3627	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						TAGACATGGAGTCTAATTCAG	0.448000													33	70					0	0	0.013726	0	0
CYP3A43	64816	broad.mit.edu	37	7	99434114	99434114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:99434114G>A	ENST00000354829.2	+	2	213	c.110G>A	c.(109-111)gGa>gAa	p.G37E	CYP3A43_ENST00000417625.1_Missense_Mutation_p.G37E|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G37E|CYP3A43_ENST00000421837.2_Missense_Mutation_p.G37E|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000415413.1_Missense_Mutation_p.G37E|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G37E	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	37			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAGAAGCTGGGAATTCCTGGG	0.393000													45	62					0	0	0.014410	0	0
ITPR1	3708	broad.mit.edu	37	3	4759072	4759072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:4759072G>A	ENST00000302640.8	+	39	5430	c.5080G>A	c.(5080-5082)Gat>Aat	p.D1694N	ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.D1694N|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.D1709N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1709					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGATGAATTGGATAATGCTGA	0.393000													179	254					0	0	0.014410	0	0
PGBD1	84547	broad.mit.edu	37	6	28251876	28251876	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28251876C>T	ENST00000405948.2	+	2	706	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	PGBD1_ENST00000259883.3_Silent_p.L96L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	96	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CCTGACCATCCTGCCCAAGGA	0.542000													51	133					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9005205	9005205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9005205G>A	ENST00000397910.4	-	47	40075	c.39872C>T	c.(39871-39873)cCc>cTc	p.P13291L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13293					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						GCTGGTGGTGGGCACAGAGCT	0.517000													10	51					0	0	0.010729	0	0
TP63	8626	broad.mit.edu	37	3	189582089	189582089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:189582089G>A	ENST00000264731.3	+	5	737	c.648G>A	c.(646-648)atG>atA	p.M216I	TP63_ENST00000418709.2_Missense_Mutation_p.M216I|TP63_ENST00000392460.3_Missense_Mutation_p.M216I|TP63_ENST00000440651.2_Missense_Mutation_p.M216I|TP63_ENST00000392463.2_Missense_Mutation_p.M122I|TP63_ENST00000456148.1_Missense_Mutation_p.M122I|TP63_ENST00000437221.1_Missense_Mutation_p.M122I|TP63_ENST00000449992.1_Missense_Mutation_p.M37I|TP63_ENST00000354600.5_Missense_Mutation_p.M122I|TP63_ENST00000382063.4_Missense_Mutation_p.M131I|TP63_ENST00000392461.3_Missense_Mutation_p.M122I|TP63_ENST00000320472.5_Missense_Mutation_p.M216I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	216					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCAAGGTGATGACCCCACCTC	0.527000										HNSCC(45;0.13)			37	163					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179599176	179599176	+	Silent	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179599176A>C	ENST00000589042.1	-	52	15599	c.15375T>G	c.(15373-15375)tcT>tcG	p.S5125S	TTN_ENST00000591111.1_Silent_p.S4808S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S3881S|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4808	Ig-like 31.						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)			GAGACTTCTGAGAAAACAATC	0.388000													32	86					0	0	0.013726	0	0
OR2L2	26246	broad.mit.edu	37	1	248202081	248202081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248202081G>A	ENST00000366479.2	+	1	608	c.512G>A	c.(511-513)aGa>aAa	p.R171K	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCAAGTCCAGAGCCATCAAT	0.438000													77	233					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38980315	38980315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38980315G>A	ENST00000359357.3	+	89	13219	c.12965G>A	c.(12964-12966)tGg>tAg	p.W4322*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W4286*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGGGCTTCTGGTTCACTGAA	0.443000													71	133					0	0	0.014410	0	0
PCDH9	5101	broad.mit.edu	37	13	67800395	67800395	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:67800395G>A	ENST00000544246.1	-	2	2869	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	PCDH9_ENST00000456367.1_Silent_p.F726F|PCDH9_ENST00000377865.2_Silent_p.F726F|PCDH9_ENST00000377861.3_Silent_p.F726F|PCDH9_ENST00000328454.5_Silent_p.F726F	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	726	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GATCAATCCGGAATAAGCCTT	0.438000													49	81					0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32030250	32030250	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32030250C>T	ENST00000375244.3	-	20	7053	c.6852G>A	c.(6850-6852)aaG>aaA	p.K2284K	TNXB_ENST00000375247.2_Silent_p.K2284K			P22105	TENX_HUMAN	tenascin XB	2353	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTTCTTCATCCTTTCCTGGGG	0.582000													86	266					0	0	0.014410	0	0
EPHA8	2046	broad.mit.edu	37	1	22903352	22903352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:22903352G>A	ENST00000166244.3	+	3	874	c.802G>A	c.(802-804)Gag>Aag	p.E268K	EPHA8_ENST00000538803.1_Missense_Mutation_p.E268K|EPHA8_ENST00000374644.4_Missense_Mutation_p.E268K	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	268	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGGCTACGAGGAGCGGCGGGA	0.687000													13	45					0	0	0.013537	0	0
RDH16	8608	broad.mit.edu	37	12	57348915	57348915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57348915G>A	ENST00000398138.3	-	2	1203	c.347C>T	c.(346-348)tCc>tTc	p.S116F	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	116					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CGTGGGCAAGGAGATGCCAGC	0.552000													14	50					0	0	0.003163	0	0
AKAP9	10142	broad.mit.edu	37	7	91660864	91660864	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:91660864C>T	ENST00000359028.2	+	17	4545	c.4320C>T	c.(4318-4320)atC>atT	p.I1440I	AKAP9_ENST00000358100.2_Silent_p.I1440I|AKAP9_ENST00000356239.3_Silent_p.I1428I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1440					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAACAAATATCGTTAAGTTGC	0.289000			T	BRAF	papillary thyroid								70	174					0	0	0.014410	0	0
PTPRO	5800	broad.mit.edu	37	12	15713206	15713206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:15713206C>T	ENST00000281171.4	+	17	3037	c.2707C>T	c.(2707-2709)Cct>Tct	p.P903S	PTPRO_ENST00000445537.2_Missense_Mutation_p.P92S|PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.P92S|PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000348962.2_Intron	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	903						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTATATTAATCCTTGGTAAGT	0.303000													14	43					0	0	0.001855	0	0
TBX4	9496	broad.mit.edu	37	17	59560748	59560748	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:59560748G>A	ENST00000393853.4	+	9	1675	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	TBX4_ENST00000240335.1_Silent_p.R503R			P57082	TBX4_HUMAN	T-box 4	503					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R503R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGTGTGAGAGGAAGCCACCCT	0.547000													29	67					0	0	0.008361	0	0
NUMB	8650	broad.mit.edu	37	14	73751034	73751034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:73751034G>A	ENST00000556772.1	-	4	2559	c.272C>T	c.(271-273)aCt>aTt	p.T91I	NUMB_ENST00000554546.1_Missense_Mutation_p.T224I|NUMB_ENST00000555238.1_Missense_Mutation_p.T235I|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Missense_Mutation_p.T235I|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000356296.4_Missense_Mutation_p.T235I|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000355058.3_Missense_Mutation_p.T235I|NUMB_ENST00000557597.1_Missense_Mutation_p.T224I|NUMB_ENST00000359560.3_Missense_Mutation_p.T224I|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.T224I			P49757	NUMB_HUMAN	numb homolog (Drosophila)	235	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGATGGGGCAGTGTTGCCAGG	0.478000													70	155					0	0	0.014410	0	0
LTBP2	4053	broad.mit.edu	37	14	75017893	75017893	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:75017893G>A	ENST00000261978.4	-	7	1946	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Silent_p.G520G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	520					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGAGGCTGTGGCCAGGGCTGG	0.706000													17	66					0	0	0.007413	0	0
C9orf171	389799	broad.mit.edu	37	9	135374845	135374845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:135374845G>A	ENST00000343036.2	+	4	538	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	C9orf171_ENST00000393215.3_Missense_Mutation_p.V128M|C9orf171_ENST00000393216.2_Missense_Mutation_p.V128M	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	164										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCGCGGGGCGGTGAAAGCCGG	0.612000													58	149					0	0	0.014410	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42374582	42374582	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42374582G>A	ENST00000290472.3	-	9	772	c.678C>T	c.(676-678)tcC>tcT	p.S226S		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	226					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CATTGCTTCTGGAGCTCTGAA	0.478000													38	81					0	0	0.005524	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338846	151338846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:151338846G>A	ENST00000435071.1	-	7	1018	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	SELENBP1_ENST00000426705.2_Missense_Mutation_p.P292S|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P188S|SELENBP1_ENST00000368868.5_Missense_Mutation_p.P250S			Q13228	SBP1_HUMAN	selenium binding protein 1	250					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTCCAAGGGAATAAGCCCA	0.572000													123	210					0	0	0.014410	0	0
ZNF331	55422	broad.mit.edu	37	19	54080355	54080355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54080355C>T	ENST00000253144.9	+	7	1874	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	ZNF331_ENST00000511593.2_Missense_Mutation_p.H181Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.H181Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000449416.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.H181Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H181N(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCAAAAAATTCATACTGGGGA	0.418000			T	?	follicular thyroid adenoma								59	87					0	0	0.014410	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758579	121758579	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:121758579G>A	ENST00000261367.7	+	6	1716	c.288G>A	c.(286-288)tgG>tgA	p.W96*	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.W96*|SNCAIP_ENST00000503116.2_Nonsense_Mutation_p.W96*|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.W49*|SNCAIP_ENST00000261368.8_Nonsense_Mutation_p.W49*|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	49					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.W96*(2)|p.W49*(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCTCTAGCTGGAATTGTGGCA	0.413000													17	36					0	0	0.006122	0	0
BRINP2	57795	broad.mit.edu	37	1	177226312	177226312	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177226312G>A	ENST00000361539.4	+	4	773	c.460_splice	c.e4-1	p.G154_splice	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		154						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTCACCATAGGAGAAGAGTCC	0.493000													12	64					0	0	0.013537	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	C	T	rs144570025		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20576154C>T	ENST00000329697.6	-	2	182	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565322.1_Intron	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R5Q(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498000													8	49					0	0	0.006214	0	0
TRPV5	56302	broad.mit.edu	37	7	142630544	142630544	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142630544G>A	ENST00000265310.1	-	1	361	c.13C>T	c.(13-15)Cta>Tta	p.L5L	TRPV5_ENST00000442623.1_Silent_p.L5L	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	5					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCTTAGGTAGAAAACCCCCC	0.512000													62	145					0	0	0.014410	0	0
NTRK3	4916	broad.mit.edu	37	15	88420186	88420186	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:88420186A>T	ENST00000394480.1	-	19	2779	c.2458T>A	c.(2458-2460)Tac>Aac	p.Y820N	NTRK3_ENST00000557856.1_Missense_Mutation_p.Y812N|NTRK3_ENST00000360948.2_Missense_Mutation_p.Y834N|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y820N|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y826N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	834	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGTCCAGGTAGATTGGGGTG	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			26	76					0	0	0.007291	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886268	144886268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:144886268G>A	ENST00000369359.4	-	26	3415	c.3377C>T	c.(3376-3378)tCc>tTc	p.S1126F	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S989F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1126F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1055F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S989F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	989					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGAAGGAGGGGAAAAAGATGG	0.473000			T	PDGFRB	MPD								120	307					0	0	0.014410	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	C	T	rs145926133		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140711128C>T	ENST00000517417.1	+	1	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C	NM_018912.2	NP_061735.1												p.R293C(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000													40	51					0	0	0.006230	0	0
SULT4A1	25830	broad.mit.edu	37	22	44229612	44229612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44229612C>T	ENST00000330884.4	-	5	631	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	SULT4A1_ENST00000249130.5_Missense_Mutation_p.G171S|SULT4A1_ENST00000540422.1_Missense_Mutation_p.G58S	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	171					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GAGCCGTAGCCCACTGCGGAG	0.627000													10	12					0	0	0.006214	0	0
FERMT1	55612	broad.mit.edu	37	20	6100135	6100135	+	Missense_Mutation	SNP	C	C	T	rs1056137		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:6100135C>T	ENST00000217289.4	-	2	855	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	23					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TGCTGCTCTTCATTGGGATGG	0.468000													42	78					0	0	0.007835	0	0
AGTR2	186	broad.mit.edu	37	X	115304600	115304600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:115304600G>A	ENST00000371906.4	+	3	1257	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	356					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						AGTTCTCTTAGAGAAATGGAG	0.423000													23	41					0	0	0.002780	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182908646	182908646	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:182908646T>A	ENST00000367547.3	-	4	1049	c.813A>T	c.(811-813)gaA>gaT	p.E271D	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E152D	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	343										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCTCACAACTTTCTTCATCAT	0.289000													12	53					0	0	0.013537	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370276	65370276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:65370276G>A	ENST00000432196.2	+	1	1123	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	375						cytoplasm				lung(1)|prostate(1)|skin(1)	3						TCTCAACCTGGCCACGGGCCA	0.652000													30	72					0	0	0.012213	0	0
KIF21B	23046	broad.mit.edu	37	1	200948786	200948786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200948786C>T	ENST00000332129.2	-	29	4314	c.3998G>A	c.(3997-3999)gGc>gAc	p.G1333D	KIF21B_ENST00000360529.5_Missense_Mutation_p.G1333D|KIF21B_ENST00000461742.2_Missense_Mutation_p.G1346D|KIF21B_ENST00000422435.2_Missense_Mutation_p.G1346D	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1346					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTTGGGGTGGCCCTTTAGAGC	0.572000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	480					0	0	0.014410	0	0
CNTN2	6900	broad.mit.edu	37	1	205027141	205027141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205027141G>A	ENST00000331830.4	+	3	447	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	55	Ig-like C2-type 1.				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)			GTCCACGGAGGAGCAGGTGTT	0.642000													30	63					0	0	0.008361	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31117622	31117622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:31117622G>A	ENST00000304166.4	+	4	463	c.174G>A	c.(172-174)tgG>tgA	p.W58*	ADCYAP1R1_ENST00000409363.1_Nonsense_Mutation_p.W58*|ADCYAP1R1_ENST00000396211.2_Nonsense_Mutation_p.W58*|ADCYAP1R1_ENST00000409489.1_Nonsense_Mutation_p.W58*	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	58					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGGGATGTGGGACAACATCA	0.567000													18	89					0	0	0.006122	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194147	160194147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:160194147C>T	ENST00000392783.2	-	32	6086	c.5591G>A	c.(5590-5592)cGg>cAg	p.R1864Q	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1764Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1830Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1828Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTCACTCTTCCGTTCTAGTGC	0.428000													52	126					0	0	0.014410	0	0
MROH2B	133558	broad.mit.edu	37	5	41018857	41018857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41018857C>T	ENST00000399564.4	-	26	3059	c.2609G>A	c.(2608-2610)gGa>gAa	p.G870E	MROH2B_ENST00000506092.2_Missense_Mutation_p.G425E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGAAGTTTTCCTAGGGCGTC	0.448000													18	65					0	0	0.008871	0	0
LCE1B	353132	broad.mit.edu	37	1	152785112	152785112	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152785112T>A	ENST00000360090.3	+	1	666	c.190T>A	c.(190-192)Tct>Act	p.S64T		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	64	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTCCAGCTCTGGGGGTTG	0.652000													92	169					0	0	0.014410	0	0
RASA1	5921	broad.mit.edu	37	5	86679577	86679577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:86679577G>A	ENST00000456692.2	+	21	2322	c.2207G>A	c.(2206-2208)cGg>cAg	p.R736Q	RASA1_ENST00000274376.6_Missense_Mutation_p.R913Q|RASA1_ENST00000506290.1_Missense_Mutation_p.R747Q|RASA1_ENST00000512763.1_Missense_Mutation_p.R746Q	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	913					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGAATCCACGGATGTTCAAT	0.294000													10	15					0	0	0.013537	0	0
SLC22A4	6583	broad.mit.edu	37	5	131647923	131647923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:131647923C>T	ENST00000200652.3	+	2	637	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F	SLC22A4_ENST00000491257.1_3'UTR|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	155					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AGGCGTGCTCCTCGGCTCCTT	0.592000													71	89					0	0	0.014410	0	0
PNPLA3	80339	broad.mit.edu	37	22	44323028	44323028	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44323028C>G	ENST00000216180.3	+	2	574	c.401C>G	c.(400-402)tCc>tGc	p.S134C	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.S130C	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	134	Patatin.				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GACTTTCGGTCCAAAGACGAA	0.507000													42	113					0	0	0.010771	0	0
MOB2	81532	broad.mit.edu	37	11	1491702	1491702	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1491702G>A	ENST00000329957.6	-	5	696	c.507C>T	c.(505-507)agC>agT	p.S169S	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	138						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						ACTCAAAGGAGCTGGGGAATT	0.627000													9	55					0	0	0.004482	0	0
HRH1	3269	broad.mit.edu	37	3	11301955	11301955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:11301955G>A	ENST00000397056.1	+	3	1423	c.1232G>A	c.(1231-1233)aGg>aAg	p.R411K	HRH1_ENST00000438284.2_Missense_Mutation_p.R411K|HRH1_ENST00000431010.2_Missense_Mutation_p.R411K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	411					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AACCGCGAAAGGAAGGCCGCC	0.478000													151	196					0	0	0.014410	0	0
OR5V1	81696	broad.mit.edu	37	6	29323920	29323920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29323920G>A	ENST00000377154.1	-	4	352	c.53C>T	c.(52-54)tCc>tTc	p.S18F	OR5V1_ENST00000543825.1_Missense_Mutation_p.S18F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTTAGGTTGGAGAATCCCAA	0.363000													22	51					0	0	0.012319	0	0
GFRA2	2675	broad.mit.edu	37	8	21563530	21563530	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:21563530G>C	ENST00000524240.1	-	5	1468	c.818C>G	c.(817-819)gCc>gGc	p.A273G	GFRA2_ENST00000517328.1_Missense_Mutation_p.A273G|GFRA2_ENST00000518077.1_Missense_Mutation_p.A140G|GFRA2_ENST00000400782.4_Missense_Mutation_p.A168G	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	273						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TCGACAATTGGCATGGAAGTC	0.567000													4	11					0	0	0.009096	0	0
DUSP27	92235	broad.mit.edu	37	1	167097833	167097833	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:167097833G>A	ENST00000361200.2	+	6	3631	c.3465G>A	c.(3463-3465)agG>agA	p.R1155R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.R1155R|DUSP27_ENST00000443333.1_Silent_p.R1155R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1155					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGCAGAAAAGGAGGGAGGACT	0.527000													16	62					0	0	0.004990	0	0
COL4A4	1286	broad.mit.edu	37	2	227967554	227967554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:227967554C>T	ENST00000396625.3	-	15	1088	c.881G>A	c.(880-882)gGt>gAt	p.G294D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G294D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	294	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGCCCCAATACCAGATTCTCC	0.383000													45	143					0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	68968209	68968209	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:68968209G>A	ENST00000288368.4	+	10	1515	c.1238_splice	c.e10+1	p.S413_splice	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	413	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.S413N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTCTTGGAAGGTAGGGTTGG	0.373000													12	84					0	0	0.013537	0	0
TNC	3371	broad.mit.edu	37	9	117826195	117826195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117826195G>A	ENST00000350763.4	-	12	4051	c.3640C>T	c.(3640-3642)Cca>Tca	p.P1214S	TNC_ENST00000341037.4_Missense_Mutation_p.P1214S|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.P1214S|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1214	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGTCCTCCTGGGACGGTGAGG	0.562000													34	95					0	0	0.013726	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526560	71526560	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:71526560A>C	ENST00000393330.2	-	10	1041	c.489T>G	c.(487-489)aaT>aaG	p.N163K	TSPAN8_ENST00000546561.1_Missense_Mutation_p.N163K|TSPAN8_ENST00000552128.1_Missense_Mutation_p.N80K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.N163K			P19075	TSN8_HUMAN	tetraspanin 8	163					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GTTGAAAATTATTTCCCCAAT	0.368000													139	202					0	0	0.014410	0	0
CDH8	1006	broad.mit.edu	37	16	61761119	61761119	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:61761119C>T	ENST00000577390.1	-	9	2369	c.1414_splice	c.e9-1	p.R472_splice	CDH8_ENST00000299345.6_Splice_Site_p.R472_splice|CDH8_ENST00000577730.1_Splice_Site_p.R472_splice|CDH8_ENST00000584337.1_Splice_Site_p.R472_splice	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACTGTGGTTCCCTATGGGAAG	0.408000													12	43					0	0	0.013537	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926205	21926205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21926205C>T	ENST00000240662.2	-	2	691	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	116						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	ACAGTGGACTCCAAACCACTT	0.463000													82	191					0	0	0.014410	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110442180	110442180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110442180G>A	ENST00000378402.5	+	27	3247	c.3143G>A	c.(3142-3144)gGa>gAa	p.G1048E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1048					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G1050>?(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATGTCAATGGAATTCCAGCT	0.398000										HNSCC(38;0.096)			6	36					0	0	0.001168	0	0
OTUD4	54726	broad.mit.edu	37	4	146065546	146065546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:146065546G>A	ENST00000454497.2	-	15	1405	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L	OTUD4_ENST00000447906.2_Missense_Mutation_p.P488L|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	487							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGGACACATGGATTGCTACT	0.378000													38	165					0	0	0.005524	0	0
GRIA2	2891	broad.mit.edu	37	4	158254081	158254081	+	Silent	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:158254081G>C	ENST00000296526.7	+	7	1318	c.993G>C	c.(991-993)ctG>ctC	p.L331L	GRIA2_ENST00000507898.1_Silent_p.L284L|GRIA2_ENST00000393815.2_Silent_p.L284L|GRIA2_ENST00000449365.1_Silent_p.L284L|GRIA2_ENST00000264426.9_Silent_p.L331L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	331					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAGACTGTCTGGCAAACCCAG	0.478000													8	41					0	0	0.004482	0	0
JUP	3728	broad.mit.edu	37	17	39928000	39928000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39928000G>A	ENST00000393931.3	-	2	225	c.107C>T	c.(106-108)tCc>tTc	p.S36F	JUP_ENST00000393930.1_Missense_Mutation_p.S36F|JUP_ENST00000540235.1_Missense_Mutation_p.S36F|JUP_ENST00000310706.5_Missense_Mutation_p.S36F	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	36					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCTGCTGACGGAGGGCACGCA	0.607000													36	85					0	0	0.004289	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545682	196545682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196545682C>T	ENST00000409086.3	+	2	1191	c.916C>T	c.(916-918)Cga>Tga	p.R306*	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.R306*	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	306					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.R306*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGGTGAACTTCGACATACTAG	0.368000													25	67					0	0	0.003330	0	0
C5orf42	65250	broad.mit.edu	37	5	37121752	37121752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:37121752G>A	ENST00000274258.7	-	48	9271	c.5684C>T	c.(5683-5685)tCt>tTt	p.S1895F	C5orf42_ENST00000508244.1_Missense_Mutation_p.S2997F|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.S2997F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2997										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACAACTGGAAGACTGAGTAGG	0.458000													19	61					0	0	0.007413	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892213	90892213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:90892213C>T	ENST00000412799.2	-	1	456	c.217G>A	c.(217-219)Gag>Aag	p.E73K																								AAGGCGTCCTCAGGTCTCAGG	0.488000													29	81					0	0	0.010818	0	0
TTBK1	84630	broad.mit.edu	37	6	43251412	43251412	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:43251412C>T	ENST00000259750.4	+	14	3017	c.2934C>T	c.(2932-2934)ccC>ccT	p.P978P		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	978						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCGAGCGCCCCTGGAGAACG	0.687000													26	71					0	0	0.004656	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718122	94718122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94718122G>A	ENST00000304338.3	+	16	1908	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	585						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AATAGACTTCGATTTTTGGAT	0.279000													20	45					0	0	0.010504	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454391	110454391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110454391G>A	ENST00000378402.5	+	35	4464	c.4360G>A	c.(4360-4362)Gga>Aga	p.G1454R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1454	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGATGGCAAAGGATTCACAAG	0.373000										HNSCC(38;0.096)			6	20					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179542471	179542471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179542471C>T	ENST00000589042.1	-	146	34392	c.34168G>A	c.(34168-34170)Gaa>Aaa	p.E11390K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11073K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10146K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11073	Glu-rich.|Pro-rich.						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)			GGTGGAATTTCCTCTTCTTCA	0.433000													30	70					0	0	0.010818	0	0
SLC18A1	6570	broad.mit.edu	37	8	20028990	20028990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:20028990C>T	ENST00000440926.1	-	8	1210	c.740G>A	c.(739-741)gGa>gAa	p.G247E	SLC18A1_ENST00000519026.1_Missense_Mutation_p.G247E|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G247E|SLC18A1_ENST00000276373.5_Missense_Mutation_p.G247E|SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000437980.1_Missense_Mutation_p.G247E|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G247E	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	247					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CATTACACTTCCAAAGGGAGC	0.512000													33	104					0	0	0.003271	0	0
HERC1	8925	broad.mit.edu	37	15	63904618	63904618	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:63904618G>A	ENST00000443617.2	-	77	14319	c.14232C>T	c.(14230-14232)taC>taT	p.Y4744Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4744	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCACCTCACGGTACCGCACCA	0.552000													22	77					0	0	0.006320	0	0
GNA15	2769	broad.mit.edu	37	19	3157840	3157840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:3157840C>T	ENST00000262958.3	+	6	1117	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	287					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGAGAAAATCCCCACCTCCCA	0.483000													100	246					0	0	0.014410	0	0
OR2T12	127064	broad.mit.edu	37	1	248458657	248458657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248458657G>A	ENST00000317996.1	-	1	223	c.224C>T	c.(223-225)aCt>aTt	p.T75I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TTTGGGCACAGTGGTGGAAAC	0.562000													9	96					0	0	0.012319	0	0
SALL1	6299	broad.mit.edu	37	16	51174202	51174202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:51174202G>A	ENST00000440970.1	-	2	2071	c.1640C>T	c.(1639-1641)tCc>tTc	p.S547F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S644F|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	644					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)			TGCCGCTGGGGAGCTCAGGAC	0.622000													14	92					0	0	0.001855	0	0
NID2	22795	broad.mit.edu	37	14	52485805	52485805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:52485805G>A	ENST00000216286.5	-	14	3001	c.3002C>T	c.(3001-3003)aCc>aTc	p.T1001I	NID2_ENST00000541773.1_Missense_Mutation_p.T900I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1001	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTGAGGCGGGGTGGAGCCAGG	0.572000													15	41					0	0	0.004007	0	0
SLIT2	9353	broad.mit.edu	37	4	20569199	20569199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:20569199G>A	ENST00000504154.1	+	28	3161	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E	SLIT2_ENST00000273739.5_Missense_Mutation_p.G974E|SLIT2_ENST00000503823.1_Missense_Mutation_p.G962E|SLIT2_ENST00000503837.1_Missense_Mutation_p.G966E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	970	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAACATGGAGGAACTTGCCAC	0.443000													6	28					0	0	0.001984	0	0
LAMA5	3911	broad.mit.edu	37	20	60909354	60909354	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:60909354A>T	ENST00000252999.3	-	22	2693	c.2627T>A	c.(2626-2628)cTg>cAg	p.L876Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	876	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCAGCTCCAGGCGCAGGTG	0.662000													6	24					0	0	0.001984	0	0
KRT75	9119	broad.mit.edu	37	12	52827960	52827960	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52827960C>T	ENST00000252245.5	-	1	349	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	43	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGCCCCCACTCCCTGCTGCAG	0.672000													31	95					0	0	0.009535	0	0
MON1A	84315	broad.mit.edu	37	3	49949127	49949127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:49949127C>T	ENST00000417270.1	-	4	1162	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000296473.3_Missense_Mutation_p.E246K|MON1A_ENST00000455683.2_Intron|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	149							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCCATGCCTCCGTGGCATCC	0.622000													90	107					0	0	0.014410	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904952	62904952	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:62904952A>T	ENST00000308824.6	+	6	1212	c.1085A>T	c.(1084-1086)tAa>tTa	p.*362L	PCMTD2_ENST00000266078.6_Nonstop_Mutation_p.*138L|PCMTD2_ENST00000369758.3_Nonstop_Mutation_p.*335L|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	0						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGAAAAATAAGTCTCCTGT	0.502000													47	146					0	0	0.014410	0	0
COL4A3	1285	broad.mit.edu	37	2	228148999	228148999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:228148999G>A	ENST00000396578.3	+	34	2981	c.2819G>A	c.(2818-2820)gGa>gAa	p.G940E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	940	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGATAAAGGAAATCCCGGG	0.498000													31	72					0	0	0.009535	0	0
ABCA8	10351	broad.mit.edu	37	17	66883513	66883513	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:66883513G>A	ENST00000269080.2	-	23	3296	c.3159C>T	c.(3157-3159)ttC>ttT	p.F1053F	ABCA8_ENST00000430352.2_Silent_p.F1093F|ABCA8_ENST00000586539.1_Silent_p.F1093F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1053						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F1053F(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCATGTCTTCGAAGTTTGAAA	0.343000													27	74					0	0	0.003954	0	0
CHMP7	91782	broad.mit.edu	37	8	23106783	23106783	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:23106783C>T	ENST00000397677.1	+	3	1008	c.360C>T	c.(358-360)tcC>tcT	p.S120S	CHMP7_ENST00000313219.7_Silent_p.S120S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	120					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GCTGGATCTCCTGGGGGGTTG	0.542000													50	104					0	0	0.014410	0	0
NME8	51314	broad.mit.edu	37	7	37890311	37890311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:37890311G>A	ENST00000199447.4	+	5	544	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	NME8_ENST00000440017.1_Missense_Mutation_p.E58K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	58	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.E58K(1)									TGAACTGAACGAAGACGAAAT	0.318000													7	75					0	0	0.004482	0	0
SERPINA3	12	broad.mit.edu	37	14	95081394	95081394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:95081394G>A	ENST00000553947.1	+	5	1579	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	SERPINA3_ENST00000393078.3_Missense_Mutation_p.V206I|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V206I|SERPINA3_ENST00000467132.1_Missense_Mutation_p.V206I|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	206					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GACAATGATGGTCCTGGTGAA	0.478000													56	161					0	0	0.014410	0	0
ZNF658	26149	broad.mit.edu	37	9	40772476	40772476	+	Silent	SNP	C	C	T	rs142990728		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:40772476C>T	ENST00000602553.1	-	5	3093	c.2799G>A	c.(2797-2799)acG>acA	p.T933T	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.T933T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTTCTCCCCCGTATGAACTC	0.438000													70	193					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13845060	13845060	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13845060G>A	ENST00000265104.4	-	32	5261	c.5157C>T	c.(5155-5157)ttC>ttT	p.F1719F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1719	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)					GATCTGAGACGAAGAAAAACC	0.448000									Kartagener syndrome				29	65					0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179438573	179438573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179438573C>T	ENST00000589042.1	-	326	72510	c.72286G>A	c.(72286-72288)Gat>Aat	p.D24096N	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D22455N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15031N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15156N|TTN_ENST00000342992.6_Missense_Mutation_p.D21528N|TTN_ENST00000342175.6_Missense_Mutation_p.D15223N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22455	Fibronectin type-III 75.						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)			GCACCACTATCCCTTCTTGTT	0.418000													22	53					0	0	0.014323	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077395	19077395	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:19077395G>A	ENST00000329773.2	-	2	642	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	185					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGCAGTGATGAAATCAAATG	0.517000													20	76					0	0	0.010504	0	0
RDH16	8608	broad.mit.edu	37	12	57348914	57348914	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57348914G>A	ENST00000398138.3	-	2	1204	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	116					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCGTGGGCAAGGAGATGCCAG	0.552000													15	52					0	0	0.004007	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834752	74834752	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:74834752C>T	ENST00000370895.1	+	16	1706	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	TNNI3K_ENST00000370891.2_Silent_p.F557F|FPGT-TNNI3K_ENST00000370899.3_Silent_p.F557F|FPGT-TNNI3K_ENST00000557284.1_Silent_p.F557F|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Silent_p.F456F			Q59H18	TNI3K_HUMAN		456	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CTTCACATTTCCATCTTCAGC	0.353000													3	21					0	0	0.004672	0	0
CSF1	1435	broad.mit.edu	37	1	110466394	110466394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110466394C>T	ENST00000329608.6	+	6	1542	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	CSF1_ENST00000369802.3_Missense_Mutation_p.P384L|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	384					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATCACACCCCCCAGAAGACA	0.657000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	165					0	0	0.006999	0	0
CEACAM20	125931	broad.mit.edu	37	19	45016134	45016134	+	RNA	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:45016134T>C	ENST00000454753.1	-	0	1795							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGACTCAGGCTTTCTAGAAAA	0.522000													43	67					0	0	0.014410	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546760	34546760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34546760G>A	ENST00000354181.3	-	9	1399	c.907C>T	c.(907-909)Cac>Tac	p.H303Y	SLC12A6_ENST00000560164.1_Missense_Mutation_p.H115Y|SLC12A6_ENST00000560611.1_Missense_Mutation_p.H303Y|SLC12A6_ENST00000451844.2_Missense_Mutation_p.H115Y|SLC12A6_ENST00000397707.2_Missense_Mutation_p.H288Y|SLC12A6_ENST00000397702.2_Missense_Mutation_p.H244Y|SLC12A6_ENST00000558589.1_Missense_Mutation_p.H294Y|SLC12A6_ENST00000290209.5_Missense_Mutation_p.H252Y|SLC12A6_ENST00000458406.2_Missense_Mutation_p.H244Y|SLC12A6_ENST00000558667.1_Missense_Mutation_p.H303Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	303					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCATCACTGTGAAAGATGGCA	0.393000													37	80					0	0	0.006999	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862961	10862961	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:10862961G>A	ENST00000559480.1	+	0	257																		p.R86K(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TTCCAGGCCAGAGTCACCATA	0.532000													50	248					0	0	0.014410	0	0
PNKD	25953	broad.mit.edu	37	2	219204529	219204529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:219204529G>A	ENST00000273077.4	+	3	311	c.260G>A	c.(259-261)tGg>tAg	p.W87*	AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Nonsense_Mutation_p.W63*|PNKD_ENST00000436005.2_Nonsense_Mutation_p.W27*	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	87						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCGCACCTGGCTCGGGTAC	0.602000													17	44					0	0	0.010504	0	0
C2orf16	84226	broad.mit.edu	37	2	27802154	27802154	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:27802154G>A	ENST00000408964.2	+	1	2766	c.2715G>A	c.(2713-2715)agG>agA	p.R905R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	905										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTATGGAAAGGAAGCTTTGTT	0.428000													58	81					0	0	0.014410	0	0
BCAS1	8537	broad.mit.edu	37	20	52601869	52601869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:52601869G>A	ENST00000395961.3	-	7	1263	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	BCAS1_ENST00000434986.2_Missense_Mutation_p.S124L|BCAS1_ENST00000371440.3_Missense_Mutation_p.S411L|BCAS1_ENST00000371435.2_Missense_Mutation_p.S366L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	366						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGTGGGTCCTGATTTCTCCTT	0.537000													39	130					0	0	0.006230	0	0
CCDC170	80129	broad.mit.edu	37	6	151907044	151907044	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:151907044C>T	ENST00000367290.5	+	7	1202	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	CCDC170_ENST00000239374.7_Silent_p.A371A			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	371																	AGCTTGAAGCCCAAATATCTG	0.458000													5	18					0	0	0.000602	0	0
MROH2B	133558	broad.mit.edu	37	5	41004463	41004463	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41004463C>T	ENST00000399564.4	-	37	4629	c.4179G>A	c.(4177-4179)agG>agA	p.R1393R	MROH2B_ENST00000506092.2_Silent_p.R948R	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAAAGAAGGTCCTTGTTTGCA	0.448000													41	111					0	0	0.010771	0	0
C7orf60	154743	broad.mit.edu	37	7	112461985	112461985	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:112461985G>A	ENST00000297145.4	-	5	1197	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	344										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CTATACTGTTGAAATCTTGAG	0.373000													12	21					0	0	0.013537	0	0
BRDT	676	broad.mit.edu	37	1	92445249	92445249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:92445249G>A	ENST00000370389.2	+	8	1927	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	BRDT_ENST00000402388.1_Missense_Mutation_p.E408K|BRDT_ENST00000399546.2_Missense_Mutation_p.E408K|BRDT_ENST00000394530.3_Missense_Mutation_p.E362K|BRDT_ENST00000362005.3_Missense_Mutation_p.E408K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	408	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGCCTCCTCTGAAGGGAACTC	0.393000													57	241					0	0	0.014410	0	0
GFRA1	2674	broad.mit.edu	37	10	117849333	117849333	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:117849333C>T	ENST00000439649.3	-	8	1468	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	GFRA1_ENST00000355422.6_Silent_p.R372R|GFRA1_ENST00000369236.1_Silent_p.R367R|GFRA1_ENST00000544592.1_Silent_p.R251R	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	372	Poly-Thr.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGTTCTTAACCCGGAGGGCAG	0.537000													32	50					0	0	0.010818	0	0
TGM6	343641	broad.mit.edu	37	20	2411557	2411557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:2411557G>A	ENST00000202625.2	+	12	1912	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	617					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCCCAGCCATGGTGGGAGTGG	0.597000													77	186					0	0	0.014410	0	0
PEX1	5189	broad.mit.edu	37	7	92136429	92136429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:92136429G>A	ENST00000248633.4	-	10	1777	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.S561F|PEX1_ENST00000438045.1_Missense_Mutation_p.S239F	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	561					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.S561C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TACGCCTAAGGAATTCACTCC	0.428000													20	45					0	0	0.007413	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805291	106805291	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106805291G>A	ENST00000438142.2	-	0	343																											CGTGTCTACTGATATGGTAAC	0.547000													97	585					0	0	0.014410	0	0
GLDC	2731	broad.mit.edu	37	9	6588438	6588438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:6588438G>A	ENST00000321612.6	-	14	1820	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	557					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATGGTGCAGGATCCCTTTAA	0.448000													26	88					0	0	0.008361	0	0
CD163	9332	broad.mit.edu	37	12	7639526	7639526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7639526G>A	ENST00000359156.4	-	9	2309	c.2107C>T	c.(2107-2109)Cct>Tct	p.P703S	CD163_ENST00000396620.3_Missense_Mutation_p.P736S|CD163_ENST00000432237.2_Missense_Mutation_p.P703S|CD163_ENST00000541972.1_Missense_Mutation_p.P691S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	703					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						GGAATGGTAGGCCTTGTTGGG	0.413000													22	49					0	0	0.004656	0	0
ZNF99	7652	broad.mit.edu	37	19	22941065	22941065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22941065G>A	ENST00000397104.3	-	5	1372	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	ZNF99_ENST00000596209.1_Missense_Mutation_p.S549F					zinc finger protein 99									p.S458Y(1)		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)				AAGGGTTGAGGAATTGTTAAA	0.333000													38	46					0	0	0.005524	0	0
SLC10A7	84068	broad.mit.edu	37	4	147438251	147438251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:147438251G>A	ENST00000432059.2	-	2	368	c.122C>T	c.(121-123)aCt>aTt	p.T41I	SLC10A7_ENST00000511374.1_Missense_Mutation_p.T41I|SLC10A7_ENST00000264986.3_Missense_Mutation_p.T41I|SLC10A7_ENST00000335472.7_Missense_Mutation_p.T41I|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.T41I|SLC10A7_ENST00000394062.3_Missense_Mutation_p.T41I|SLC10A7_ENST00000394059.4_Missense_Mutation_p.T41I|SLC10A7_ENST00000502607.1_Missense_Mutation_p.T41I			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	41						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTAGGATACAGTTATTTCTGG	0.348000													97	201					0	0	0.014410	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817086	22817086	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:22817086C>T	ENST00000404138.1	+	3	1156	c.645C>T	c.(643-645)ccC>ccT	p.P215P	ZBTB40_ENST00000375647.4_Silent_p.P215P|ZBTB40_ENST00000374651.4_Silent_p.P215P	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	215					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTTGTTCCCCCTCCCCTGCTG	0.468000													24	78					0	0	0.002780	0	0
BAGE2	85319	broad.mit.edu	37	21	11097588	11097588	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:11097588G>A	ENST00000470054.1	-	0	281									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gctcaccacaggggactcctc	0.542000													6	140					0	0	0.003080	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003739	119003739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:119003739G>A	ENST00000298472.5	+	3	522	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	127					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTCCTGAATGAAAACGTGCA	0.527000													31	52					0	0	0.008361	0	0
SYT7	9066	broad.mit.edu	37	11	61323677	61323677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:61323677C>T	ENST00000263846.4	-	2	361	c.34G>A	c.(34-36)Gcg>Acg	p.A12T	SYT7_ENST00000542670.1_Missense_Mutation_p.A12T|SYT7_ENST00000540677.1_Missense_Mutation_p.A12T|SYT7_ENST00000535826.1_Missense_Mutation_p.A12T|SYT7_ENST00000539008.1_Missense_Mutation_p.A12T|SYT7_ENST00000542836.1_Missense_Mutation_p.A12T	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	12						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.A12P(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCGAGGGCGCCCCTGGGGAG	0.652000													17	29					0	0	0.007413	0	0
PRKD1	5587	broad.mit.edu	37	14	30068238	30068238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:30068238G>A	ENST00000331968.5	-	15	2390	c.2161C>T	c.(2161-2163)Cct>Tct	p.P721S	PRKD1_ENST00000415220.2_Missense_Mutation_p.P729S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	721	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTTGCCTGAGGAAAAGGATCA	0.423000													26	57					0	0	0.006320	0	0
PNPLA3	80339	broad.mit.edu	37	22	44323029	44323029	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44323029C>T	ENST00000216180.3	+	2	575	c.402C>T	c.(400-402)tcC>tcT	p.S134S	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Silent_p.S130S	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	134	Patatin.				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				ACTTTCGGTCCAAAGACGAAG	0.512000													42	111					0	0	0.010771	0	0
ABCB5	340273	broad.mit.edu	37	7	20685683	20685683	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:20685683C>T	ENST00000404938.2	+	9	1555	c.903C>T	c.(901-903)acC>acT	p.T301T		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	487	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGAATGGAACCTATGGACTTG	0.393000													7	43					0	0	0.001984	0	0
MROH2B	133558	broad.mit.edu	37	5	41018871	41018871	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41018871G>A	ENST00000399564.4	-	26	3045	c.2595C>T	c.(2593-2595)tcC>tcT	p.S865S	MROH2B_ENST00000506092.2_Silent_p.S420S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGGCGTCCATGGATCGTTCAT	0.458000													23	56					0	0	0.002780	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807986	18807986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18807986G>A	ENST00000400664.1	+	1	563	c.511G>A	c.(511-513)Gga>Aga	p.G171R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	171						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCAGCTGGACTCATTGC	0.617000													25	82					0	0	0.006320	0	0
ARID3B	10620	broad.mit.edu	37	15	74865502	74865502	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74865502G>A	ENST00000346246.5	+	4	885	c.654G>A	c.(652-654)agG>agA	p.R218R		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	218	ARID.|Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ATCCTGAAAGGAAAGAGTTCC	0.438000													71	225					0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	215972452	215972452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:215972452G>A	ENST00000366943.2	-	50	10141	c.9755C>T	c.(9754-9756)cCa>cTa	p.P3252L	USH2A_ENST00000307340.3_Missense_Mutation_p.P3252L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3252					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTTCATCTGGACAGCATAC	0.403000										HNSCC(13;0.011)			17	14					0	0	0.007413	0	0
CYTIP	9595	broad.mit.edu	37	2	158272596	158272596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:158272596C>T	ENST00000264192.3	-	8	794	c.673G>A	c.(673-675)Gga>Aga	p.G225R	CYTIP_ENST00000540637.1_Missense_Mutation_p.G119R	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	225					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GGCAGGGGTCCAAACAAAGAC	0.502000													15	54					0	0	0.004007	0	0
MGAM	8972	broad.mit.edu	37	7	141740634	141740634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141740634C>T	ENST00000475668.2	+	21	2540	c.2486C>T	c.(2485-2487)aCc>aTc	p.T829I	MGAM_ENST00000549489.2_Missense_Mutation_p.T829I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	829	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAAATACAACCACTCTGGCC	0.463000													14	31					0	0	0.002450	0	0
ITFG1	81533	broad.mit.edu	37	16	47462726	47462726	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:47462726T>A	ENST00000320640.6	-	6	872	c.644A>T	c.(643-645)gAt>gTt	p.D215V	ITFG1_ENST00000544001.2_Missense_Mutation_p.D102V	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	215						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGCTGTAAAATCTTCAGTCAG	0.313000													11	68					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13829789	13829789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13829789C>T	ENST00000265104.4	-	38	6378	c.6274G>A	c.(6274-6276)Gaa>Aaa	p.E2092K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2092	AAA 1 (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)					TCAGGGAGTTCCTGCCGTCCG	0.428000									Kartagener syndrome				16	51					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9020006	9020006	+	Silent	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9020006T>G	ENST00000397910.4	-	21	37692	c.37489A>C	c.(37489-37491)Agg>Cgg	p.R12497R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12499	SEA 3.				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						AGACTGTTCCTGTCCAGGGTG	0.512000													104	284					0	0	0.014410	0	0
HDLBP	3069	broad.mit.edu	37	2	242174968	242174968	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242174968G>A	ENST00000391975.1	-	22	3173	c.2946C>T	c.(2944-2946)gaC>gaT	p.D982D	HDLBP_ENST00000427183.2_Silent_p.D949D|HDLBP_ENST00000391976.2_Silent_p.D982D|HDLBP_ENST00000310931.4_Silent_p.D982D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	982	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AACGGTGAAGGTCAAAGGGCA	0.537000													56	146					0	0	0.014410	0	0
LOXL1	4016	broad.mit.edu	37	15	74238784	74238784	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74238784A>T	ENST00000261921.7	+	3	1564	c.1238A>T	c.(1237-1239)gAc>gTc	p.D413V		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	413	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GAGGCCACCGACTACGATGTG	0.677000													5	17					0	0	0.000602	0	0
COL18A1	80781	broad.mit.edu	37	21	46900645	46900645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46900645C>T	ENST00000359759.4	+	12	2750	c.2729C>T	c.(2728-2730)cCc>cTc	p.P910L	COL18A1_ENST00000355480.5_Missense_Mutation_p.P675L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P495L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	910	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCTCCCGGACCCCCCGGTGTC	0.701000													27	64					0	0	0.006320	0	0
NHLRC4	283948	broad.mit.edu	37	16	618156	618156	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:618156C>T	ENST00000424439.2	+	2	766	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	NHLRC4_ENST00000540585.1_Silent_p.L37L|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	37																	CCGCCAACCCCTGGGCTCCCT	0.662000													5	30					0	0	0.001168	0	0
C2orf71	388939	broad.mit.edu	37	2	29295898	29295898	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:29295898C>T	ENST00000331664.5	-	1	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	410					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCAGGCAGTCCTGGGGTCTGC	0.572000													50	126					0	0	0.014410	0	0
MYO1A	4640	broad.mit.edu	37	12	57442065	57442065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57442065G>A	ENST00000442789.2	-	3	330	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	MYO1A_ENST00000300119.3_Missense_Mutation_p.L15F	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	15	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGTTCCAGGAGGACAAGATCC	0.522000													17	42					0	0	0.006122	0	0
FGF6	2251	broad.mit.edu	37	12	4553315	4553315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:4553315C>T	ENST00000228837.2	-	2	477	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	145					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GTACAATCTTCCTTTACTGTT	0.488000													26	69					0	0	0.007291	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176493	140176493	+	Silent	SNP	C	C	T	rs140366950		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140176493C>T	ENST00000526136.1	+	1	1944	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L648L|PCDHA2_ENST00000378132.1_Silent_p.L648L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCTACTCGTGCTGGTGA	0.652000													46	79					0	0	0.014410	0	0
TRBC2	28638	broad.mit.edu	37	7	142498826	142498826	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142498826G>A	ENST00000466254.1	+	0	102																											CCTGGCCACAGGCTTCTACCC	0.617000													36	179					0	0	0.005524	0	0
DUSP27	92235	broad.mit.edu	37	1	167083001	167083001	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:167083001C>T	ENST00000361200.2	+	3	331	c.165C>T	c.(163-165)caC>caT	p.H55H	DUSP27_ENST00000271385.5_Silent_p.H55H|DUSP27_ENST00000443333.1_Silent_p.H55H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	55					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AACCCATTCACCTCTCCTCAG	0.453000													135	265					0	0	0.014410	0	0
SNRPC	6631	broad.mit.edu	37	6	34738120	34738120	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:34738120C>T	ENST00000374017.3	+	4	653	c.366C>T	c.(364-366)ccC>ccT	p.P122P	SNRPC_ENST00000374018.1_Silent_p.P60P|SNRPC_ENST00000244520.5_Silent_p.P101P|SNRPC_ENST00000474635.1_3'UTR			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	101					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGGCCCTCCCATGATGCCAA	0.502000													35	94					0	0	0.005524	0	0
EXOSC7	23016	broad.mit.edu	37	3	45030653	45030653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:45030653C>T	ENST00000265564.7	+	2	127	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	27					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		TGTGGATGGCCGTGGCTGTGA	0.522000													31	88					0	0	0.004878	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791110	106791110	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106791110G>A	ENST00000390613.2	-	0	325																											GGCCCTTCACGGAGTCTGCAT	0.507000													102	464					0	0	0.014410	0	0
CDCP1	64866	broad.mit.edu	37	3	45152248	45152248	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:45152248A>C	ENST00000296129.1	-	4	875	c.741T>G	c.(739-741)gaT>gaG	p.D247E	CDCP1_ENST00000425231.2_Missense_Mutation_p.D247E	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	247						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCATGAGCTCATCCTCAGGGA	0.562000													73	256					0	0	0.014410	0	0
WFDC1	58189	broad.mit.edu	37	16	84360501	84360501	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:84360501G>A	ENST00000219454.5	+	6	944	c.618G>A	c.(616-618)aaG>aaA	p.K206K	WFDC1_ENST00000568638.1_Silent_p.K206K			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	206					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GTGACTCAAAGAATGTGGCAG	0.502000													13	121					0	0	0.003163	0	0
OR5H15	403274	broad.mit.edu	37	3	97888017	97888017	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:97888017C>T	ENST00000356526.2	+	1	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATGCTTTAATCCATGAAGGAT	0.358000													9	64					0	0	0.008291	0	0
EPHB2	2048	broad.mit.edu	37	1	23110979	23110979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:23110979G>A	ENST00000400191.3	+	3	239	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	EPHB2_ENST00000374627.1_Missense_Mutation_p.R68Q|EPHB2_ENST00000544305.1_Missense_Mutation_p.R74Q|EPHB2_ENST00000374632.3_Missense_Mutation_p.R74Q|EPHB2_ENST00000374630.3_Missense_Mutation_p.R74Q	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	74					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACTGGCTACGGACCAAGTTT	0.587000													25	58					0	0	0.003954	0	0
LRRK2	120892	broad.mit.edu	37	12	40692934	40692934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:40692934C>T	ENST00000298910.7	+	25	3429	c.3371C>T	c.(3370-3372)tCc>tTc	p.S1124F	LRRK2_ENST00000343742.2_Missense_Mutation_p.S1124F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1124					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGGATATGCTCCCCCTTGAGA	0.328000													22	76					0	0	0.002780	0	0
NEMF	9147	broad.mit.edu	37	14	50272836	50272836	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:50272836G>C	ENST00000298310.5	-	19	2209	c.1760C>G	c.(1759-1761)cCa>cGa	p.P587R	NEMF_ENST00000545773.1_Missense_Mutation_p.P545R|NEMF_ENST00000546046.1_Missense_Mutation_p.P566R|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	587						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAAGGTCCGTGGGGGGATGGG	0.468000													19	56					0	0	0.012319	0	0
TEKT4	150483	broad.mit.edu	37	2	95540640	95540640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:95540640C>T	ENST00000295201.4	+	4	970	c.833C>T	c.(832-834)tCc>tTc	p.S278F	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	278					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGCGACACCTCCGAGGACCTG	0.687000													15	22					0	0	0.004007	0	0
GABRA3	2556	broad.mit.edu	37	X	151366215	151366215	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151366215T>A	ENST00000370314.4	-	8	1059	c.821A>T	c.(820-822)aAa>aTa	p.K274I	GABRA3_ENST00000370311.1_Missense_Mutation_p.K274I|GABRA3_ENST00000535043.1_Missense_Mutation_p.K274I	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	274					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTAGCCAATTTTTCGCTTGAG	0.418000													31	51					0	0	0.003271	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561465	232561465	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:232561465G>A	ENST00000366630.1	-	17	4858	c.4500C>T	c.(4498-4500)tcC>tcT	p.S1500S	SIPA1L2_ENST00000262861.4_Silent_p.S1500S|SIPA1L2_ENST00000308942.4_Silent_p.S574S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1500					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACTGCCAAAGGAGGACCCCC	0.597000													18	78					0	0	0.007413	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038831	122038831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:122038831G>A	ENST00000263707.5	-	2	176	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	27	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TTGAAGATGGGCAGAGCGAGC	0.637000													76	180					0	0	0.014410	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710755	77710755	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:77710755C>T	ENST00000298351.4	+	16	1549	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	469						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GATACTGCCTCTGATTGTCTA	0.612000													81	203					0	0	0.014410	0	0
LRP12	29967	broad.mit.edu	37	8	105509941	105509941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:105509941G>A	ENST00000276654.5	-	5	947	c.839C>T	c.(838-840)cCt>cTt	p.P280L	LRP12_ENST00000424843.2_Missense_Mutation_p.P261L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	280	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTTCCAGGAGGATAAAAGTC	0.393000													17	47					0	0	0.008871	0	0
KRT4	3851	broad.mit.edu	37	12	53207631	53207631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53207631C>T	ENST00000551956.1	-	1	704	c.212G>A	c.(211-213)gGt>gAt	p.G71D	KRT4_ENST00000458244.2_Missense_Mutation_p.G51D|KRT4_ENST00000293774.4_Missense_Mutation_p.G145D			B4DRS2	B4DRS2_HUMAN	keratin 4	71						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AAAGCAGGCACCTTGTCGTGA	0.602000													86	238					0	0	0.014410	0	0
MME	4311	broad.mit.edu	37	3	154857980	154857980	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:154857980G>A	ENST00000460393.1	+	10	976	c.855_splice	c.e10-1	p.A286_splice	MME_ENST00000360490.2_Splice_Site_p.A286_splice|MME_ENST00000462745.1_Splice_Site_p.A286_splice|MME_ENST00000493237.1_Splice_Site_p.A286_splice|MME_ENST00000492661.1_Splice_Site_p.A286_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	286					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A286T(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AAATCCATAGGCTACGGCTAA	0.299000													14	23					0	0	0.004007	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152215	11152215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:11152215C>T	ENST00000358026.2	+	31	4783	c.4499C>T	c.(4498-4500)gCc>gTc	p.A1500V	SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1468V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1438V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1468V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1435V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1435V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1438V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1438V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1438V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1468	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATTGTGGATGCCGTGATCAAG	0.612000			"""F, N, Mis"""		NSCLC								24	49					0	0	0.007291	0	0
EPC2	26122	broad.mit.edu	37	2	149528627	149528627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:149528627G>A	ENST00000258484.6	+	10	1425	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	464					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATAATGGACCGAATATCCACA	0.368000													10	26					0	0	0.006214	0	0
ACTL8	81569	broad.mit.edu	37	1	18152389	18152389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18152389C>T	ENST00000375406.1	+	3	692	c.476C>T	c.(475-477)cCt>cTt	p.P159L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	159						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGCGTGCAGCCTTTCCACCAG	0.627000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	48					0	0	0.002780	0	0
SFTPB	6439	broad.mit.edu	37	2	85894911	85894911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:85894911G>A	ENST00000393822.3	-	3	221	c.122C>T	c.(121-123)tCc>tTc	p.S41F	SFTPB_ENST00000519937.2_Missense_Mutation_p.S29F|SFTPB_ENST00000342375.3_Missense_Mutation_p.S29F|SFTPB_ENST00000409383.1_Missense_Mutation_p.S41F			P07988	PSPB_HUMAN	surfactant protein B	29	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.S29F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ACAGGCCAAGGATGAGGTGGT	0.577000													33	111					0	0	0.012213	0	0
IKZF4	64375	broad.mit.edu	37	12	56428559	56428559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:56428559C>T	ENST00000262032.5	+	12	1569	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	IKZF4_ENST00000547167.1_Missense_Mutation_p.S401F|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Missense_Mutation_p.S299F|IKZF4_ENST00000547791.1_Missense_Mutation_p.S356F			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	401					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCATCAGCTCTGTCTACACC	0.607000													29	101					0	0	0.008361	0	0
LRFN5	145581	broad.mit.edu	37	14	42360873	42360873	+	Silent	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:42360873T>C	ENST00000298119.4	+	4	2995	c.1806T>C	c.(1804-1806)tgT>tgC	p.C602C	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	602						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGCCCAGTGTTGTAAAGCTA	0.478000										HNSCC(30;0.082)			30	69					0	0	0.012213	0	0
LRCH4	4034	broad.mit.edu	37	7	100175447	100175447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100175447G>A	ENST00000310300.6	-	8	1089	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	346					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACTCACCTGAGCCATCCTC	0.637000													29	70					0	0	0.010818	0	0
OR4A47	403253	broad.mit.edu	37	11	48510731	48510731	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48510731T>A	ENST00000446524.1	+	1	463	c.387T>A	c.(385-387)caT>caA	p.H129Q		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGCCCTTGCATTATTTGGTTA	0.463000													9	41					0	0	0.004482	0	0
GSX2	170825	broad.mit.edu	37	4	54968083	54968083	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:54968083C>T	ENST00000326902.2	+	2	1223	c.909C>T	c.(907-909)ccC>ccT	p.P303P	GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	303						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AGATTTCCCCCTTATGAGGGA	0.657000													11	20					0	0	0.008291	0	0
AHDC1	27245	broad.mit.edu	37	1	27875279	27875279	+	Silent	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:27875279G>T	ENST00000374011.2	-	6	4316	c.3348C>A	c.(3346-3348)ggC>ggA	p.G1116G	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.G1116G	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1116							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCAGTCCAGGCCTCCATAGC	0.612000													37	128					2.6416e-12	2.69508e-12	0.006230	1	0
FLNC	2318	broad.mit.edu	37	7	128483328	128483328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:128483328G>A	ENST00000325888.8	+	17	2857	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	FLNC_ENST00000346177.6_Missense_Mutation_p.D866N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	866					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCATCCCACGATGCCAGCAA	0.647000													8	23					0	0	0.008291	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734935	140734935	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140734935C>T	ENST00000571252.1	+	1	168	c.168C>T	c.(166-168)ccC>ccT	p.P56P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_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)			GGTTGGCGCCCCGGGAGCTGG	0.637000													54	93					0	0	0.014410	0	0
MROH2B	133558	broad.mit.edu	37	5	41065470	41065470	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41065470G>A	ENST00000399564.4	-	4	774	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.F108F(1)									CAAGCACAACGAATTCATCTG	0.418000													8	18					0	0	0.003080	0	0
FAIM2	23017	broad.mit.edu	37	12	50284486	50284486	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:50284486G>A	ENST00000320634.3	-	7	599	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	FAIM2_ENST00000550890.1_Silent_p.L123L	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	169					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						AGGAGAATCAGGTTCCAGGGG	0.592000													29	127					0	0	0.013726	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089784	43089784	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:43089784T>C	ENST00000359467.3	-	5	728	c.614A>G	c.(613-615)aAc>aGc	p.N205S	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	205						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CTGCAAAGTGTTCTCACGATG	0.363000													4	86					0	0	0.009096	0	0
KCNC4	3749	broad.mit.edu	37	1	110775514	110775514	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110775514C>T	ENST00000413138.3	+	4	1871	c.1863C>T	c.(1861-1863)acC>acT	p.T621T	KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000369787.3_3'UTR			Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	0					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGTCTCACACCTGTGCTCTTT	0.537000													17	14					0	0	0.004990	0	0
MAP2K3	5606	broad.mit.edu	37	17	21205551	21205551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:21205551C>T	ENST00000342679.4	+	6	745	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	MAP2K3_ENST00000361818.5_Missense_Mutation_p.L137F|MAP2K3_ENST00000316920.6_Missense_Mutation_p.L137F	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	166	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGAGGACATCCTTGGGGAGAT	0.582000													9	72					0	0	0.006214	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340064	42340064	+	Silent	SNP	G	G	A	rs55786369		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:42340064G>A	ENST00000262418.6	-	3	201	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	16					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCTGCTCCAGATTCTCCTCC	0.587000													18	55					0	0	0.006122	0	0
CSMD3	114788	broad.mit.edu	37	8	113871468	113871468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:113871468C>T	ENST00000297405.5	-	11	1905	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G514E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G554E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G450E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	554	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCACTTGGTCCTTGAAGATT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	32					0	0	0.003163	0	0
PLXNA4	91584	broad.mit.edu	37	7	131848931	131848931	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:131848931G>A	ENST00000359827.3	-	24	5432	c.4470C>T	c.(4468-4470)ctC>ctT	p.L1490L	PLXNA4_ENST00000321063.4_Silent_p.L1490L			Q9HCM2	PLXA4_HUMAN	plexin A4	1490						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTGGCGGATGAGCTTGTCCT	0.607000													20	68					0	0	0.014323	0	0
CNTN5	53942	broad.mit.edu	37	11	100179181	100179181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:100179181G>A	ENST00000524871.1	+	21	3001	c.2711G>A	c.(2710-2712)gGa>gAa	p.G904E	CNTN5_ENST00000527185.1_Missense_Mutation_p.G904E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G830E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G904E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G904E|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	904	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAGAGTCTAGGAAGACCACAG	0.423000													5	14					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152283748	152283748	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152283748T>A	ENST00000368799.1	-	3	3649	c.3614A>T	c.(3613-3615)gAt>gTt	p.D1205V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1205	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGAGGCATCAGACCTTCC	0.557000									Ichthyosis				297	507					0	0	0.014410	0	0
ASTL	431705	broad.mit.edu	37	2	96803358	96803358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96803358C>T	ENST00000342380.2	-	2	136	c.137G>A	c.(136-138)gGa>gAa	p.G46E		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	46					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGCCTGGGTTCCCTCAGGGGT	0.607000													85	185					0	0	0.014410	0	0
MYBPH	4608	broad.mit.edu	37	1	203143639	203143639	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203143639G>A	ENST00000255416.4	-	3	484	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	143	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GACACGCGCAGGAGGAACTTG	0.637000													20	68					0	0	0.012319	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507081	71507081	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:71507081A>T	ENST00000359244.4	+	4	303	c.280A>T	c.(280-282)Aag>Tag	p.K94*	FAM86C1_ENST00000426628.2_Nonsense_Mutation_p.K87*|FAM86C1_ENST00000528685.1_Nonsense_Mutation_p.K60*|FAM86C1_ENST00000346333.6_Nonsense_Mutation_p.K60*	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	94										lung(1)	1						TATTGCCCAGAAGCCATCGTG	0.612000													11	122					0	0	0.003163	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20249284C>T	ENST00000315957.4	+	1	884	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTCATTTTCCCTAGATAAA	0.418000													36	136					0	0	0.004878	0	0
OR51B5	282763	broad.mit.edu	37	11	5363955	5363955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5363955G>A	ENST00000300773.2	-	1	854	c.800C>T	c.(799-801)cCa>cTa	p.P267L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAATATGTGGAACCTGCTT	0.408000													18	46					0	0	0.004990	0	0
IGHG1	3500	broad.mit.edu	37	14	106204123	106204123	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106204123C>T	ENST00000390548.2	-	0	1175																											CGATCATGTTCCTGTAGTCGG	0.647000													29	105					0	0	0.007291	0	0
OR4N2	390429	broad.mit.edu	37	14	20296446	20296446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20296446C>T	ENST00000315947.1	+	1	839	c.839C>T	c.(838-840)cCt>cTt	p.P280L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGATTTTTCCTTTGTTGAAT	0.438000													33	119					0	0	0.012213	0	0
RHCE	6006	broad.mit.edu	37	1	25715541	25715541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:25715541G>A	ENST00000349320.3	-	8	1205	c.817C>T	c.(817-819)Cct>Tct	p.P273S	RHCE_ENST00000294413.7_Missense_Mutation_p.P289S|RHCE_ENST00000243186.6_Missense_Mutation_p.P289S|RHCE_ENST00000374352.2_Missense_Mutation_p.P273S|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000349438.4_Missense_Mutation_p.P289S|RHCE_ENST00000413854.1_Missense_Mutation_p.P289S|RHCE_ENST00000340849.4_Missense_Mutation_p.P184S|RHCE_ENST00000455194.1_Missense_Mutation_p.P184S|RHCE_ENST00000425135.1_Intron			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	289				A -> V (in Ref. 7; AAN75122).		integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CACGGAGAAGGGATCAGGTGA	0.557000													25	74					0	0	0.009535	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37252230	37252230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:37252230C>T	ENST00000373491.3	+	6	937	c.791C>T	c.(790-792)aCc>aTc	p.T264I		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	264	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CACCAGGATACCTACAGACAG	0.478000													42	74					0	0	0.008740	0	0
TRPM6	140803	broad.mit.edu	37	9	77415335	77415335	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:77415335G>A	ENST00000451710.3	-	17	2310	c.2073C>T	c.(2071-2073)gcC>gcT	p.A691A	TRPM6_ENST00000360774.1_Silent_p.A691A|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.A691A|TRPM6_ENST00000449912.2_Silent_p.A686A|TRPM6_ENST00000361255.3_Silent_p.A686A			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	691					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACAGCGTCATGGCCATGCGCT	0.502000													33	67					0	0	0.013726	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357869	38357869	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38357869C>T	ENST00000273173.4	+	9	1678	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	SLC22A14_ENST00000448498.1_Silent_p.S529S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	529						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCATCTTGTCCCTGACAATCA	0.622000													36	143					0	0	0.005524	0	0
KANK4	163782	broad.mit.edu	37	1	62703962	62703962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62703962G>A	ENST00000371153.4	-	10	3353	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	KANK4_ENST00000354381.3_Missense_Mutation_p.S364F|KANK4_ENST00000317477.4_Missense_Mutation_p.S130F|KANK4_ENST00000371150.1_Missense_Mutation_p.S348F	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	992										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CAGCCCCAGGGACCTGCCCTG	0.612000													21	42					0	0	0.012319	0	0
RECK	8434	broad.mit.edu	37	9	36080601	36080601	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:36080601G>A	ENST00000377966.3	+	7	971		c.e7-1		RECK_ENST00000479053.1_Splice_Site	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs							anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCAATTTACAGAATGCTCTTT	0.289000													9	23					0	0	0.008291	0	0
GCNT1	2650	broad.mit.edu	37	9	79117396	79117396	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:79117396G>A	ENST00000442371.1	+	3	1038	c.99G>A	c.(97-99)agG>agA	p.R33R	GCNT1_ENST00000376730.4_Silent_p.R33R|GCNT1_ENST00000536223.1_Silent_p.R33R|GCNT1_ENST00000444201.2_Silent_p.R33R	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	33	Stem region (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CCGTTTTAAGGATTCATCAAA	0.398000													41	93					0	0	0.006999	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10401153C>T	ENST00000226207.5	-	31	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1421						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCTGCTTCGTCTTCTCAA	0.473000													46	61					0	0	0.013114	0	0
PROM1	8842	broad.mit.edu	37	4	16037363	16037363	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:16037363G>C	ENST00000510224.1	-	4	546	c.298C>G	c.(298-300)Cta>Gta	p.L100V	PROM1_ENST00000447510.2_Missense_Mutation_p.L100V|PROM1_ENST00000543373.1_Intron|PROM1_ENST00000505450.1_Intron|PROM1_ENST00000540805.1_Missense_Mutation_p.L100V|PROM1_ENST00000508167.1_Intron|PROM1_ENST00000502943.1_Intron|PROM1_ENST00000539194.1_Missense_Mutation_p.L100V			O43490	PROM1_HUMAN	prominin 1	100					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTTACCTTTAGACCTAAGATT	0.403000													30	114					0	0	0.003271	0	0
ATP5L2	267020	broad.mit.edu	37	22	43036159	43036159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:43036159G>A	ENST00000505920.1	-	1	448	c.122C>T	c.(121-123)cCc>cTc	p.P41L	CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000361740.4_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	41					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						AGCAGGGGTGGGAGGAACCAG	0.498000													33	64					0	0	0.013726	0	0
ADH6	130	broad.mit.edu	37	4	100128614	100128614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:100128614G>A	ENST00000394899.2	-	7	1046	c.953C>T	c.(952-954)tCt>tTt	p.S318F	ADH6_ENST00000407820.2_Missense_Mutation_p.S109F|ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.S318F	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	318					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TCCAAAAACAGAACCCTTCAA	0.463000													12	64					0	0	0.002450	0	0
TRPC7	57113	broad.mit.edu	37	5	135692503	135692503	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:135692503C>G	ENST00000513104.1	-	2	855	c.573G>C	c.(571-573)gaG>gaC	p.E191D	TRPC7_ENST00000426057.2_Missense_Mutation_p.E191D|TRPC7_ENST00000355180.3_Missense_Mutation_p.E191D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	191					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTGGGGCCGCTCGATGCGGG	0.612000													40	83					0	0	0.008740	0	0
CD96	10225	broad.mit.edu	37	3	111298075	111298075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:111298075G>A	ENST00000352690.4	+	4	985	c.745G>A	c.(745-747)Gtt>Att	p.V249I	CD96_ENST00000283285.5_Missense_Mutation_p.V265I|CD96_ENST00000438817.2_Missense_Mutation_p.V249I	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	265					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CACAGTCAAGGTTTTTGGTAA	0.502000									Opitz Trigonocephaly syndrome				36	80					0	0	0.004289	0	0
SRBD1	55133	broad.mit.edu	37	2	45829070	45829070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:45829070G>A	ENST00000263736.4	-	3	295	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	78					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AACGACTTCTGAGCCATCACT	0.478000													62	217					0	0	0.014410	0	0
FREM1	158326	broad.mit.edu	37	9	14776177	14776177	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:14776177C>T	ENST00000380881.4	-	26	5285	c.4470G>A	c.(4468-4470)cgG>cgA	p.R1490R	FREM1_ENST00000422223.2_Silent_p.R1489R|FREM1_ENST00000380894.1_Silent_p.R25R|FREM1_ENST00000380880.3_Silent_p.R1489R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1489					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.R1490R(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGTGCTCGGTCCGCAGTCCAT	0.527000													8	37					0	0	0.003080	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831541	7831541	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7831541G>A	ENST00000327325.5	+	5	902		c.e5-1		CLEC4M_ENST00000357361.2_Splice_Site|CLEC4M_ENST00000596363.1_Splice_Site|CLEC4M_ENST00000248228.4_Splice_Site|CLEC4M_ENST00000597522.1_Splice_Site|CLEC4M_ENST00000359059.5_Splice_Site|CLEC4M_ENST00000595496.1_Splice_Site|CLEC4M_ENST00000334806.5_Splice_Site|CLEC4M_ENST00000596707.1_Splice_Site|CLEC4M_ENST00000394122.2_Splice_Site	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M						cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TCCCCCAACAGAACGCCTGTG	0.557000													37	120					0	0	0.004878	0	0
SPAG1	6674	broad.mit.edu	37	8	101203629	101203629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:101203629C>T	ENST00000388798.2	+	9	1035	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	SPAG1_ENST00000520643.1_Missense_Mutation_p.R282C|SPAG1_ENST00000520508.1_Missense_Mutation_p.R282C|SPAG1_ENST00000251809.3_Missense_Mutation_p.R282C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	282					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCTTCTGCGTCGTGCTACTAC	0.363000													11	62					0	0	0.010729	0	0
FAM216A	29902	broad.mit.edu	37	12	110925695	110925695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:110925695G>A	ENST00000377673.5	+	6	1162	c.650G>A	c.(649-651)aGa>aAa	p.R217K		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	217																	TCTAAAACAAGATGTAAGTCA	0.358000													40	133					0	0	0.014410	0	0
MOAP1	64112	broad.mit.edu	37	14	93649576	93649576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:93649576C>T	ENST00000556883.1	-	2	1496	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	MOAP1_ENST00000298894.4_Missense_Mutation_p.E338K			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	338					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		AGGGCCTcctcctcctcagct	0.478000													57	116					0	0	0.014410	0	0
GHR	2690	broad.mit.edu	37	5	42719193	42719193	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:42719193C>T	ENST00000230882.4	+	10	1774	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	GHR_ENST00000537449.1_Silent_p.F341F|GHR_ENST00000357703.3_Silent_p.F506F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	528					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGAAAACTTCCTTATGGACA	0.498000													11	53					0	0	0.010729	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468536	26468536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:26468536G>A	ENST00000312541.5	+	8	1591	c.1343G>A	c.(1342-1344)tGc>tAc	p.C448Y	BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Missense_Mutation_p.C387Y	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	448	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GAGTCCCTTTGCCGGGTGGGC	0.532000													37	65					0	0	0.005524	0	0
MAT1A	4143	broad.mit.edu	37	10	82034872	82034872	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:82034872C>T	ENST00000372213.3	-	7	1112	c.852G>A	c.(850-852)ggG>ggA	p.G284G	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	284					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTAGTCCTTCCCAGAGAAGG	0.607000													14	11					0	0	0.004007	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553172	140553172	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140553172C>T	ENST00000231137.3	+	1	930	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		252	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGTGCCCGAAAATAGCC	0.522000													53	82					0	0	0.014410	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622736	74622736	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:74622736C>T	ENST00000156626.7	-	5	1507	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	436					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGCTCACCTTCCCAAGAGGCA	0.562000													307	866					0	0	0.014410	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669879	24669879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:24669879G>A	ENST00000376454.3	+	3	466	c.436G>A	c.(436-438)Gat>Aat	p.D146N	KIAA1217_ENST00000376462.1_Missense_Mutation_p.D66N|KIAA1217_ENST00000430453.2_Missense_Mutation_p.D67N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D146N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D146N	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	146					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GACGTCCGCTGATTCTTTGGA	0.547000													35	51					0	0	0.003271	0	0
MYO3A	53904	broad.mit.edu	37	10	26414347	26414347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:26414347C>T	ENST00000265944.5	+	19	2090	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	642	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R642W(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCTTTGCATTCGGGCAGATGA	0.418000													19	24					0	0	0.006122	0	0
SCMH1	22955	broad.mit.edu	37	1	41579192	41579192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:41579192G>A	ENST00000402904.2	-	8	846	c.478C>T	c.(478-480)Cca>Tca	p.P160S	SCMH1_ENST00000397171.2_Missense_Mutation_p.P99S|SCMH1_ENST00000397174.2_Missense_Mutation_p.P140S|SCMH1_ENST00000326197.7_Missense_Mutation_p.P160S|SCMH1_ENST00000361191.5_Missense_Mutation_p.P99S|SCMH1_ENST00000372595.1_Missense_Mutation_p.P99S|SCMH1_ENST00000337495.5_Missense_Mutation_p.P170S|SCMH1_ENST00000361705.3_Missense_Mutation_p.P113S|SCMH1_ENST00000372597.1_Missense_Mutation_p.P113S|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372596.1_Missense_Mutation_p.P99S	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	160					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GAAGGCGATGGTGGCTCCTAG	0.438000													15	49					0	0	0.004007	0	0
DNAH11	8701	broad.mit.edu	37	7	21826324	21826324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:21826324C>T	ENST00000328843.6	+	60	9732	c.9701C>T	c.(9700-9702)gCt>gTt	p.A3234V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A3227V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3234	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCCTTCTGGCTCCTCGGGGA	0.502000									Kartagener syndrome				13	93					0	0	0.003163	0	0
ACOT4	122970	broad.mit.edu	37	14	74062020	74062020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:74062020C>T	ENST00000326303.4	+	3	1182	c.928C>T	c.(928-930)Cca>Tca	p.P310S		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	310					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CAGCATGATTCCAATAGAGAA	0.493000													34	99					0	0	0.003755	0	0
ZNF208	7757	broad.mit.edu	37	19	22157237	22157237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22157237G>A	ENST00000397126.4	-	4	747	c.599C>T	c.(598-600)tCc>tTc	p.S200F	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGAATTCTCTCT	0.353000													12	65					0	0	0.001855	0	0
GRIP1	23426	broad.mit.edu	37	12	66838419	66838419	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:66838419G>A	ENST00000359742.4	-	13	1872	c.1632C>T	c.(1630-1632)ctC>ctT	p.L544L	GRIP1_ENST00000398016.3_Silent_p.L492L|GRIP1_ENST00000286445.7_Silent_p.L544L			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	544	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAGAGTCTCGGAGGAGCTGAC	0.448000													62	118					0	0	0.014410	0	0
NOS1	4842	broad.mit.edu	37	12	117655926	117655926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:117655926C>T	ENST00000317775.6	-	28	4899	c.4214G>A	c.(4213-4215)cGa>cAa	p.R1405Q	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1439Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1405					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCGTACGTTCGCAGGGTGAC	0.478000													166	413					0	0	0.014410	0	0
SHCBP1	79801	broad.mit.edu	37	16	46617964	46617964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:46617964G>A	ENST00000303383.3	-	11	1768	c.1502C>T	c.(1501-1503)aCc>aTc	p.T501I		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	501										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GTCACTCAGGGTGCACTGACT	0.423000													7	14					0	0	0.003080	0	0
HIRA	7290	broad.mit.edu	37	22	19346879	19346879	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:19346879G>A	ENST00000263208.5	-	18	2470	c.2214C>T	c.(2212-2214)atC>atT	p.I738I	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Silent_p.I694I|HIRA_ENST00000546308.1_Silent_p.I694I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	738	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CAGCAGTGAGGATCCGGCTGG	0.632000													30	95					0	0	0.004289	0	0
GPR111	222611	broad.mit.edu	37	6	47650193	47650193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:47650193C>T	ENST00000398742.2	+	5	1743	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	GPR111_ENST00000296862.1_Missense_Mutation_p.A633V|GPR111_ENST00000507065.1_Missense_Mutation_p.A565V			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	633					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CAGCGAGCTGCCATTGGCAAT	0.522000													12	34					0	0	0.010729	0	0
PDE8B	8622	broad.mit.edu	37	5	76700600	76700600	+	Silent	SNP	G	G	A	rs146656374		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:76700600G>A	ENST00000264917.5	+	12	1311	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	PDE8B_ENST00000333194.4_Silent_p.S422S|PDE8B_ENST00000340978.3_Silent_p.S375S|PDE8B_ENST00000342343.4_Silent_p.S402S|PDE8B_ENST00000346042.3_Silent_p.S325S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	422					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.S422S(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ACGTGAAATCGATATCATCTC	0.358000													59	108					0	0	0.014410	0	0
COQ2	27235	broad.mit.edu	37	4	84193263	84193263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:84193263G>A	ENST00000311469.4	-	4	754	c.755C>T	c.(754-756)tCa>tTa	p.S252L	COQ2_ENST00000439031.2_Missense_Mutation_p.S215L|COQ2_ENST00000311461.7_Missense_Mutation_p.S202L	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	202					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				AGGCCAGTATGAAATTCTTTT	0.363000													3	13					0	0	0.009096	0	0
ACTA1	58	broad.mit.edu	37	1	229568051	229568051	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:229568051G>A	ENST00000366684.3	-	4	684	c.582C>T	c.(580-582)atC>atT	p.I194I	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	194					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCTCAGTGAGGATCTTCATCA	0.687000													24	66					0	0	0.003954	0	0
HOXA9	3205	broad.mit.edu	37	7	27204900	27204900	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:27204900C>T	ENST00000343483.6	-	1	249	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HOXA9_ENST00000396345.1_Silent_p.K59K|RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	59							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						ACACCGTCGCCTTGGACTGGA	0.716000			T	"""NUP98, MSI2"""	AML*								7	7					0	0	0.001984	0	0
PRKAB1	5564	broad.mit.edu	37	12	120110193	120110193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:120110193C>T	ENST00000229328.5	+	2	739	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PRKAB1_ENST00000541640.1_Nonsense_Mutation_p.R83*|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	83					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AACGGTGTTTCGATGGACGGG	0.537000													75	231					0	0	0.014410	0	0
PASD1	139135	broad.mit.edu	37	X	150791502	150791502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:150791502G>A	ENST00000370357.4	+	7	757	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	171						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TATCTTGTGGGAAATGTTTGC	0.512000													24	49					0	0	0.002780	0	0
MYO18B	84700	broad.mit.edu	37	22	26164563	26164563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:26164563G>A	ENST00000335473.7	+	4	930	c.680G>A	c.(679-681)gGa>gAa	p.G227E	MYO18B_ENST00000407587.2_Missense_Mutation_p.G227E|MYO18B_ENST00000536101.1_Missense_Mutation_p.G227E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	227						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.G227E(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGGCCAAGGAACTGTGGCA	0.617000													9	24					0	0	0.008291	0	0
DLGAP4	22839	broad.mit.edu	37	20	35075302	35075302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:35075302C>T	ENST00000373913.3	+	7	2090	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L	DLGAP4_ENST00000373907.2_Missense_Mutation_p.P537L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P537L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P537L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	537					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCCCCACCGCCCAGTACCGGC	0.602000													14	68					0	0	0.004990	0	0
ANGPT1	284	broad.mit.edu	37	8	108334242	108334242	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:108334242G>A	ENST00000520734.1	-	3	375	c.90C>T	c.(88-90)atC>atT	p.I30I	ANGPT1_ENST00000520052.1_Silent_p.I30I			Q15389	ANGP1_HUMAN	angiopoietin 1	230					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCAGCTCCTGGATTATATATG	0.423000													15	50					0	0	0.003163	0	0
CHRM2	1129	broad.mit.edu	37	7	136700491	136700491	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:136700491C>T	ENST00000445907.2	+	3	1407	c.879C>T	c.(877-879)gcC>gcT	p.A293A	CHRM2_ENST00000397608.3_Silent_p.A293A|CHRM2_ENST00000320658.5_Silent_p.A293A|CHRM2_ENST00000453373.1_Silent_p.A293A|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.A293A|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Silent_p.A293A|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	293					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGCTGTTGCCTCTAATATGA	0.473000													9	35					0	0	0.006214	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669609	234669609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234669609G>A	ENST00000360418.3	+	1	676	c.676G>A	c.(676-678)Gtt>Att	p.V226I	UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V226I|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A8_ENST00000373450.4_Intron			P22309	UD11_HUMAN		226					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTGCGACGTGGTTTATTCCCC	0.507000													129	254					0	0	0.014410	0	0
KCNK5	8645	broad.mit.edu	37	6	39159357	39159357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:39159357G>A	ENST00000359534.3	-	5	1147	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	270					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGAGTGTGGGGAGCTCTCAAA	0.547000													96	233					0	0	0.014410	0	0
DNAH17	8632	broad.mit.edu	37	17	76503579	76503579	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:76503579C>T	ENST00000389840.5	-	28	4657	c.4533G>A	c.(4531-4533)ggG>ggA	p.G1511G	DNAH17_ENST00000585328.1_Silent_p.G1512G					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTGGGAGTCCCCCGGGAGCT	0.582000													17	66					0	0	0.004990	0	0
CSMD2	114784	broad.mit.edu	37	1	34066481	34066481	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:34066481G>A	ENST00000373381.4	-	44	7016	c.6840C>T	c.(6838-6840)ttC>ttT	p.F2280F	CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.F379F|CSMD2_ENST00000373380.1_Silent_p.F1153F|CSMD2_ENST00000373388.2_Silent_p.F379F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2282	CUB 13.					integral to membrane|plasma membrane	protein binding	p.F2282F(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCTATGGCGAAGATCCCCC	0.577000													34	88					0	0	0.003271	0	0
SH3D21	79729	broad.mit.edu	37	1	36785831	36785831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:36785831G>A	ENST00000453908.2	+	14	1595	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	SH3D21_ENST00000426732.2_Missense_Mutation_p.D407N|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.D412N|SH3D21_ENST00000312808.4_Missense_Mutation_p.D169N	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	407										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGCCAAAGAGGATCCATCATC	0.537000													36	90					0	0	0.003755	0	0
YLPM1	56252	broad.mit.edu	37	14	75265731	75265731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:75265731G>A	ENST00000325680.7	+	5	3855	c.3731G>A	c.(3730-3732)aGa>aAa	p.R1244K	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1049K|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1049					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTCTATAACAGAGAGGACAGG	0.493000													10	34					0	0	0.008291	0	0
DEPDC5	9681	broad.mit.edu	37	22	32302432	32302432	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:32302432G>A	ENST00000266091.3	+	42	4837	c.4695G>A	c.(4693-4695)ctG>ctA	p.L1565L	DEPDC5_ENST00000539165.1_Silent_p.L404L|DEPDC5_ENST00000400246.1_3'UTR|DEPDC5_ENST00000400248.1_Silent_p.L1556L|DEPDC5_ENST00000400249.2_Silent_p.L1556L|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000535622.1_Silent_p.L1487L|DEPDC5_ENST00000382112.3_Silent_p.L1578L|DEPDC5_ENST00000382111.2_3'UTR			O75140	DEPD5_HUMAN	DEP domain containing 5	1556					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACAACCGGCTGGTCACGTTCT	0.592000													108	417					0	0	0.014410	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637140	124637140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124637140G>A	ENST00000526629.1	-	3	2369	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F	MSANTD2_ENST00000374979.3_Missense_Mutation_p.L538F|MSANTD2_ENST00000239614.4_Missense_Mutation_p.L486F			Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	538																	CCTGCGGAAAGAAAATCCCTC	0.413000													43	83					0	0	0.007835	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947137	57947137	+	Missense_Mutation	SNP	C	C	T	rs147196085		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:57947137C>T	ENST00000335397.3	+	3	537	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GTCTGCTACTCATCTATCACT	0.493000													45	64					0	0	0.014410	0	0
CYLD	1540	broad.mit.edu	37	16	50783723	50783723	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:50783723C>T	ENST00000540145.1	+	4	529	c.114C>T	c.(112-114)ctC>ctT	p.L38L	CYLD_ENST00000311559.9_Silent_p.L38L|CYLD_ENST00000568704.2_Silent_p.L38L|CYLD_ENST00000564326.1_Silent_p.L38L|CYLD_ENST00000566206.1_Silent_p.L38L|CYLD_ENST00000569418.1_Silent_p.L38L|CYLD_ENST00000427738.3_Silent_p.L38L|CYLD_ENST00000398568.2_Silent_p.L38L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	38					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CACAAAAGCTCCTTAAAGTAC	0.408000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				26	62					0	0	0.006320	0	0
PTPRD	5789	broad.mit.edu	37	9	8338977	8338977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:8338977G>A	ENST00000381196.4	-	40	5867	c.5324C>T	c.(5323-5325)gCt>gTt	p.A1775V	PTPRD_ENST00000397617.3_Missense_Mutation_p.A1368V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1775V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1762V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1365V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1753V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1369V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1368V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1775V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1368V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1365V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1775	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGTACTCAGCCATGGGATC	0.418000										TSP Lung(15;0.13)			18	56					0	0	0.006122	0	0
KRT28	162605	broad.mit.edu	37	17	38955789	38955789	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38955789C>T	ENST00000306658.7	-	1	422	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	119	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CATACCAACCCTTGATTTTTC	0.423000													63	208					0	0	0.014410	0	0
TRPM5	29850	broad.mit.edu	37	11	2444171	2444171	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:2444171C>T	ENST00000452833.1	-	1	104	c.96G>A	c.(94-96)ggG>ggA	p.G32G	TRPM5_ENST00000533060.1_Silent_p.G32G|TRPM5_ENST00000155858.6_Silent_p.G32G|TRPM5_ENST00000528453.1_Silent_p.G32G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	32						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCTTCCCAGACCCTCCAAAGT	0.647000													79	155					0	0	0.014410	0	0
SECISBP2	79048	broad.mit.edu	37	9	91964815	91964815	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:91964815C>T	ENST00000375807.3	+	13	1934	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	SECISBP2_ENST00000339901.4_Silent_p.F548F|SECISBP2_ENST00000534113.2_Silent_p.F553F	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	621					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ACACCACCTTCCCTAAGATCC	0.567000													33	68					0	0	0.003755	0	0
CAPN11	11131	broad.mit.edu	37	6	44149024	44149024	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:44149024C>T	ENST00000398776.1	+	19	1943	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	CAPN11_ENST00000542245.1_Silent_p.F635F	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	635	Domain IV.|EF-hand 1.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCTAGAGTTCAAGATCCTGT	0.512000													25	85					0	0	0.006320	0	0
SCEL	8796	broad.mit.edu	37	13	78191759	78191759	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:78191759A>T	ENST00000535157.1	+	23	1521	c.1351A>T	c.(1351-1353)Aag>Tag	p.K451*	SCEL_ENST00000377246.3_Nonsense_Mutation_p.K473*|SCEL_ENST00000349847.3_Nonsense_Mutation_p.K493*|SCEL_ENST00000469982.1_3'UTR	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	493	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TAAACTCATCAAGGTGAATCC	0.284000													6	20					0	0	0.001984	0	0
TAF1C	9013	broad.mit.edu	37	16	84212933	84212933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:84212933C>T	ENST00000567759.1	-	14	2406	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	TAF1C_ENST00000570117.1_Missense_Mutation_p.E410K|TAF1C_ENST00000541676.1_Missense_Mutation_p.E649K|TAF1C_ENST00000566732.1_Missense_Mutation_p.E716K|TAF1C_ENST00000378541.4_Missense_Mutation_p.E742K|TAF1C_ENST00000341690.6_Missense_Mutation_p.E648K	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	742					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTCCCGGGCTCCGAGGTCCTG	0.687000													6	31					0	0	0.001984	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277513	140277513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:140277513C>T	ENST00000458420.3	+	12	2045	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	619					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATCAGTATCCCTGAGGTAGA	0.532000										HNSCC(16;0.037)			30	79					0	0	0.009535	0	0
DPH6	89978	broad.mit.edu	37	15	35742939	35742939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:35742939C>T	ENST00000256538.4	-	5	478	c.452G>A	c.(451-453)aGa>aAa	p.R151K		NM_080650.3	NP_542381.1			diphthamine biosynthesis 6																		TATCATCTCTCTGAGCAAATC	0.388000													56	144					0	0	0.014410	0	0
FAM47A	158724	broad.mit.edu	37	X	34150082	34150082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:34150082G>A	ENST00000346193.3	-	1	365	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	105										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAGAGCTTGGAAAATAGGGC	0.547000													62	96					0	0	0.014410	0	0
CTCF	10664	broad.mit.edu	37	16	67650694	67650694	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67650694C>T	ENST00000264010.4	+	5	1443	c.999C>T	c.(997-999)acC>acT	p.T333T	CTCF_ENST00000401394.1_Silent_p.T5T	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	333					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CCTTTGTGACCAGTGGAGAAT	0.498000													58	294					0	0	0.014410	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069387	161069387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161069387G>A	ENST00000392192.2	+	3	848	c.706G>A	c.(706-708)Gga>Aga	p.G236R	KLHDC9_ENST00000490724.2_Splice_Site|KLHDC9_ENST00000368011.4_Splice_Site	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	0										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTCTCCCCAAGGAGGAACCAC	0.507000													220	756					0	0	0.014410	0	0
MYH7B	57644	broad.mit.edu	37	20	33568445	33568445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:33568445C>T	ENST00000262873.7	+	6	625	c.533C>T	c.(532-534)tCc>tTc	p.S178F	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	136	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TATACGGCCTCCGTAGTGGCT	0.537000													83	258					0	0	0.014410	0	0
NXPE4	54827	broad.mit.edu	37	11	114453326	114453326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:114453326C>T	ENST00000375478.3	-	3	694	c.514G>A	c.(514-516)Gag>Aag	p.E172K	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		ACCTGGCCCTCCCAGAACAGA	0.572000													9	18					0	0	0.004482	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48898790	48898790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:48898790G>A	ENST00000394754.1	+	10	3526	c.3412G>A	c.(3412-3414)Gat>Aat	p.D1138N	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D1138N|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.D400N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D1138N|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.D434N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D1138N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D1091N	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1091					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTGACACGGATAATGTTAT	0.348000													28	130					0	0	0.003755	0	0
FAM214A	56204	broad.mit.edu	37	15	52892383	52892383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:52892383G>A	ENST00000261844.7	-	9	2742	c.2590C>T	c.(2590-2592)Cca>Tca	p.P864S	FAM214A_ENST00000546305.2_Missense_Mutation_p.P871S	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	864																	CTCAAAAATGGTTTTTCATGA	0.308000													32	64					0	0	0.004289	0	0
SAMD14	201191	broad.mit.edu	37	17	48191655	48191655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48191655C>T	ENST00000330175.4	-	8	1155	c.838G>A	c.(838-840)Gat>Aat	p.D280N	SAMD14_ENST00000503131.1_Missense_Mutation_p.D308N	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	280								p.D308N(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGGAGTCATCACTCAGAGTG	0.577000													28	65					0	0	0.008361	0	0
ZFHX3	463	broad.mit.edu	37	16	72821663	72821663	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:72821663G>A	ENST00000268489.5	-	10	11184	c.10512C>T	c.(10510-10512)gtC>gtT	p.V3504V	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.V2590V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3504					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgGTGGGGACGTGAAGCA	0.736000													19	56					0	0	0.006122	0	0
APOH	350	broad.mit.edu	37	17	64210703	64210703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:64210703C>T	ENST00000205948.6	-	7	887	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	284	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTAAATTTTTCCTGAATCTTT	0.358000													54	139					0	0	0.014410	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564535	176564535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:176564535G>A	ENST00000367662.3	+	3	2959	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E599K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	599	Metalloprotease.				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						TTGTGACCCCGAGTGTGAGCA	0.612000													68	108					0	0	0.014410	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650954	14650954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:14650954C>T	ENST00000544627.1	+	15	4104	c.3784C>T	c.(3784-3786)Cct>Tct	p.P1262S	ATF7IP_ENST00000261168.4_Missense_Mutation_p.P1254S|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P1254S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P1253S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1254	Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACGTTTTGGGCCTTTCTGTGA	0.433000													57	240					0	0	0.014410	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027574	9027574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:9027574C>T	ENST00000383836.3	-	22	3356	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.E953K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	977					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTCTCGAGTTCCCGCAACTCG	0.647000			T	RAF1	pilocytic astrocytoma								68	90					0	0	0.014410	0	0
LHX2	9355	broad.mit.edu	37	9	126777551	126777551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:126777551G>A	ENST00000373615.4	+	3	1213	c.474G>A	c.(472-474)atG>atA	p.M158I		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	158	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACTTCGGCATGAAGGACAGCC	0.622000													81	206					0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	137814118	137814118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:137814118G>A	ENST00000409968.1	+	3	446	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E59K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E90K					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)		GCCTCCAAAGGAAAGAAGTTG	0.537000													18	51					0	0	0.006122	0	0
LRRC7	57554	broad.mit.edu	37	1	70501887	70501887	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:70501887A>C	ENST00000310961.5	+	20	2398	c.1980A>C	c.(1978-1980)aaA>aaC	p.K660N	LRRC7_ENST00000035383.5_Missense_Mutation_p.K655N|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	655						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACCCACCCAAACTTGTTCTGC	0.403000													20	46					0	0	0.002780	0	0
KLK10	5655	broad.mit.edu	37	19	51520527	51520527	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51520527G>A	ENST00000309958.3	-	3	326	c.108C>T	c.(106-108)ctC>ctT	p.L36L	KLK10_ENST00000391805.1_Silent_p.L36L|KLK10_ENST00000358789.3_Silent_p.L36L	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	36					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CGTTTTGGGGGAGCAGCGCCG	0.667000											OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	21					0	0	0.004990	0	0
C10orf107	219621	broad.mit.edu	37	10	63519881	63519881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:63519881C>T	ENST00000330194.2	+	5	658	c.353C>T	c.(352-354)tCa>tTa	p.S118L		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	118										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					GAAGGAATCTCATTTGATATT	0.393000													5	16					0	0	0.001984	0	0
C10orf118	55088	broad.mit.edu	37	10	115889665	115889665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:115889665G>A	ENST00000369287.3	-	13	2433	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	C10orf118_ENST00000543782.1_Missense_Mutation_p.R321C	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	723	Ser-rich.									NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GAACTAGAACGACTTCCCATG	0.368000													40	40					0	0	0.010771	0	0
MYOM3	127294	broad.mit.edu	37	1	24413234	24413234	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:24413234C>T	ENST00000330966.7	-	15	1863	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.E566E|MYOM3_ENST00000374434.3_Silent_p.E566E			Q5VTT5	MYOM3_HUMAN	myomesin 3	566	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)		ACTTCTTTTTCTCCAGGTCCA	0.582000													55	108					0	0	0.014410	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857410	101857410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:101857410C>T	ENST00000604957.1	+	1	2963	c.341C>T	c.(340-342)tCt>tTt	p.S114F	ARMCX5_ENST00000536530.1_Missense_Mutation_p.S114F|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S114F|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S114F|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.S114F|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S114F	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	114							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						ATGCCTATGTCTAGGGTCAGT	0.448000													70	92					0	0	0.014410	0	0
OR2T8	343172	broad.mit.edu	37	1	248084543	248084543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248084543C>T	ENST00000319968.4	+	1	224	c.224C>T	c.(223-225)aCt>aTt	p.T75I		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTTTCCACCACTGTGCCCAAA	0.577000													8	284					0	0	0.010729	0	0
ZNF251	90987	broad.mit.edu	37	8	145948171	145948171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145948171G>A	ENST00000292562.7	-	5	1149	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CAGCCAAAGGGTTTTTCTCCA	0.423000													37	78					0	0	0.004878	0	0
TNIP3	79931	broad.mit.edu	37	4	122068317	122068317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:122068317C>T	ENST00000454328.1	-	9	849	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	TNIP3_ENST00000507879.1_Missense_Mutation_p.E278K|TNIP3_ENST00000509841.1_Missense_Mutation_p.E285K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E208K|TNIP3_ENST00000511909.1_5'UTR			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	208										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGTCTTCTTCGTATATTTGC	0.368000													32	53					0	0	0.012213	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942930	12942930	+	Missense_Mutation	SNP	G	G	A	rs76269416		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12942930G>A	ENST00000235349.5	-	2	356	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	96										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGGGACGAACCCCTAGG	0.622000													19	18					0	0	0.012319	0	0
PATE2	399967	broad.mit.edu	37	11	125647308	125647308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:125647308C>T	ENST00000358524.3	-	4	356	c.311G>A	c.(310-312)aGt>aAt	p.S104N	PATE2_ENST00000436890.2_Missense_Mutation_p.S61N	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	104						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						GCAGTAGTTACTATGATCACA	0.448000													21	31					0	0	0.002780	0	0
TEX19	400629	broad.mit.edu	37	17	80320137	80320137	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80320137C>T	ENST00000333437.4	+	2	421	c.111C>T	c.(109-111)tgC>tgT	p.C37C		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	37						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCTTCACCTGCTTCAAGGCTG	0.517000													85	212					0	0	0.014410	0	0
ZP2	7783	broad.mit.edu	37	16	21213444	21213444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21213444C>T	ENST00000574002.1	-	12	1750	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.G423E|ZP2_ENST00000219593.4_Missense_Mutation_p.G423E			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	423	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)		CGTTCCACATCCATTCAGGGG	0.498000													21	34					0	0	0.008871	0	0
MOB3B	79817	broad.mit.edu	37	9	27359163	27359163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:27359163G>A	ENST00000262244.5	-	3	914	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	164							metal ion binding|protein binding										ATATAGACGTGGACAAAGACC	0.458000													77	276					0	0	0.014410	0	0
GUCY2C	2984	broad.mit.edu	37	12	14832636	14832636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:14832636C>T	ENST00000261170.3	-	6	921	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	262					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.R262L(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGCCACTGCTCGGTCACCCTT	0.418000													25	81					0	0	0.010818	0	0
HSDL2	84263	broad.mit.edu	37	9	115216316	115216316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:115216316G>A	ENST00000398805.3	+	9	1116	c.889G>A	c.(889-891)Gag>Aag	p.E297K	HSDL2_ENST00000262542.7_Missense_Mutation_p.E177K|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224K|HSDL2_ENST00000539114.1_Missense_Mutation_p.E92K	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	297						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATTCAAAGAAGAGAAACTGCA	0.403000													22	71					0	0	0.012319	0	0
ERBB4	2066	broad.mit.edu	37	2	212587181	212587181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:212587181G>A	ENST00000342788.4	-	7	1130	c.820C>T	c.(820-822)Caa>Taa	p.Q274*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q274*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q274*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	274	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGCTCCAGTTGAAAGGTGGTT	0.388000										TSP Lung(8;0.080)			23	46					0	0	0.002780	0	0
TRANK1	9881	broad.mit.edu	37	3	36893308	36893308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:36893308G>A	ENST00000429976.2	-	14	4904	c.4657C>T	c.(4657-4659)Cca>Tca	p.P1553S	TRANK1_ENST00000428977.2_Missense_Mutation_p.P1003S|TRANK1_ENST00000301807.6_Missense_Mutation_p.P1003S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1553					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTCTTCTGGAATTTTCTCC	0.383000													5	13					0	0	0.000602	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110505901	110505901	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110505901G>A	ENST00000378402.5	+	63	10352	c.10248G>A	c.(10246-10248)ggG>ggA	p.G3416G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3416					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAAATAGAGGGACCAATACAG	0.353000										HNSCC(38;0.096)			4	15					0	0	0.000602	0	0
SCN4A	6329	broad.mit.edu	37	17	62041908	62041908	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:62041908G>A	ENST00000435607.1	-	9	1448	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L	SCN4A_ENST00000578147.1_Silent_p.L458L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	458					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCCTCGGCCAGGGTGGCCTCA	0.527000													25	65					0	0	0.003954	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:19995558G>A	ENST00000391403.2	-	1	2320	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000													25	27					0	0	0.003330	0	0
XIST	7503	broad.mit.edu	37	X	73065803	73065803	+	RNA	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:73065803T>A	ENST00000429829.1	-	0	6785					NR_001564.2																						CTTATTCAGATGGAATGGGCA	0.463000													66	95					0	0	0.014410	0	0
PTPN7	5778	broad.mit.edu	37	1	202127303	202127303	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:202127303G>A	ENST00000309017.3	-	3	1337	c.564C>T	c.(562-564)acC>acT	p.T188T	PTPN7_ENST00000367279.4_Silent_p.T122T|PTPN7_ENST00000308986.5_Silent_p.T83T|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'UTR	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	83	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						GGGCCCAGCGGGTAAGGGGGT	0.597000													52	93					0	0	0.014410	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22433707	22433707	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22433707G>A	ENST00000390442.3	+	0	28																											TTTAAGGTTTGAATCCTCAGT	0.363000													9	22					0	0	0.006214	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117470	99117470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:99117470C>T	ENST00000394170.2	+	4	825	c.574C>T	c.(574-576)Cct>Tct	p.P192S	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P192S|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P192S	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	192					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTCCAAGTTCCTTCCCTTCC	0.532000													33	98					0	0	0.005524	0	0
TAF1L	138474	broad.mit.edu	37	9	32632636	32632636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:32632636C>T	ENST00000242310.4	-	1	3031	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	981					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATAGGAGAATCCTTCACCACA	0.507000													48	186					0	0	0.014410	0	0
OR8H3	390152	broad.mit.edu	37	11	55890659	55890659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55890659G>A	ENST00000313472.3	+	1	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTTGGGAAGAGATCAAGTGGC	0.373000													39	45					0	0	0.004878	0	0
CNOT1	23019	broad.mit.edu	37	16	58559989	58559989	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:58559989A>G	ENST00000317147.5	-	45	6839	c.6507T>C	c.(6505-6507)acT>acC	p.T2169T	CNOT1_ENST00000245138.4_Silent_p.T1020T|CNOT1_ENST00000569240.1_Silent_p.T2164T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2169					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCATTACTCCAGTGAAATTGG	0.408000													47	97					0	0	0.014410	0	0
ZNF99	7652	broad.mit.edu	37	19	22939385	22939385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22939385G>A	ENST00000397104.3	-	7	2785	c.2786C>T	c.(2785-2787)tCa>tTa	p.S929L						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)				AGTAAGGTGTGAGGATTGCTT	0.368000													30	34					0	0	0.009535	0	0
FAM13C	220965	broad.mit.edu	37	10	61023888	61023888	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:61023888C>T	ENST00000373867.3	-	10	1197	c.732G>A	c.(730-732)ctG>ctA	p.L244L	FAM13C_ENST00000422313.2_Silent_p.L327L|FAM13C_ENST00000435852.2_Silent_p.L327L|FAM13C_ENST00000373868.2_Silent_p.L327L|FAM13C_ENST00000277705.6_Silent_p.L348L|FAM13C_ENST00000442566.3_Silent_p.L348L|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000468840.2_Silent_p.L244L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	327										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCATCCATTTCAGGACTTCAG	0.453000													32	45					0	0	0.013726	0	0
SLC38A11	151258	broad.mit.edu	37	2	165796040	165796040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:165796040G>A	ENST00000303735.4	-	4	553	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	SLC38A11_ENST00000409662.1_Missense_Mutation_p.R97C|SLC38A11_ENST00000409058.1_Missense_Mutation_p.R128C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.R97C	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	97					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ATGAAGTGGCGACCAATAAAC	0.328000													23	44					0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82583736	82583736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:82583736G>A	ENST00000423517.2	-	5	6870	c.6533C>T	c.(6532-6534)cCc>cTc	p.P2178L	PCLO_ENST00000333891.8_Missense_Mutation_p.P2178L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2109					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGTCAGAGGGTGGGACAGA	0.428000													21	47					0	0	0.012319	0	0
OR52E2	119678	broad.mit.edu	37	11	5079978	5079978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5079978C>T	ENST00000321522.2	-	1	879	c.880G>A	c.(880-882)Gga>Aga	p.G294R		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G294R(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTCTGACTCCATATATGACA	0.408000													11	51					0	0	0.013537	0	0
SCN5A	6331	broad.mit.edu	37	3	38639421	38639421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38639421C>T	ENST00000413689.1	-	14	2254	c.2061G>A	c.(2059-2061)tgG>tgA	p.W687*	SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W687*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W687*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W687*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	687					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGAGACGGTTCCAGCATGGTG	0.532000													93	98					0	0	0.014410	0	0
SPINK6	404203	broad.mit.edu	37	5	147582695	147582695	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:147582695G>A	ENST00000325630.2	+	1	292	c.36G>A	c.(34-36)ctG>ctA	p.L12L		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	12						extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTCTCTGGCTCTTTTCT	0.363000													16	51					0	0	0.010504	0	0
ANO3	63982	broad.mit.edu	37	11	26463553	26463553	+	Silent	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:26463553T>C	ENST00000256737.3	+	2	987	c.135T>C	c.(133-135)gcT>gcC	p.A45A	ANO3_ENST00000525139.1_Silent_p.A29A|ANO3_ENST00000531646.1_Silent_p.A45A|ANO3_ENST00000537978.1_Silent_p.A29A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	45						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGAGCTACGCTTACTCAAAGA	0.463000													42	267					0	0	0.008740	0	0
ALK	238	broad.mit.edu	37	2	29543705	29543705	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:29543705G>A	ENST00000389048.3	-	7	2364	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	486	MAM 2.				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)	TCCAGCCACAGAAGCCATCTT	0.522000			"""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				59	159					0	0	0.014410	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645394	122645394	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122645394C>T	ENST00000195173.4	-	9	1284	c.981G>A	c.(979-981)ggG>ggA	p.G327G	SEMA5B_ENST00000357599.3_Silent_p.G327G|SEMA5B_ENST00000451055.2_Silent_p.G381G			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	327	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGAATCGGCCCCCCACGTCAT	0.612000													15	63					0	0	0.004007	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001351	52001351	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:52001351C>T	ENST00000291707.3	-	5	1381	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	SIGLEC12_ENST00000598614.1_Silent_p.G324G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	442	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGTGAATTCCCCTTCATCCT	0.612000													22	42					0	0	0.010504	0	0
PTPRG	5793	broad.mit.edu	37	3	62204553	62204553	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:62204553C>T	ENST00000474889.1	+	13	2561	c.2184C>T	c.(2182-2184)agC>agT	p.S728S	PTPRG_ENST00000295874.10_Silent_p.S728S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	728					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GAATGATAAGCCGCCCTGCTC	0.507000													72	95					0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130293024	130293024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:130293024G>A	ENST00000358511.6	+	7	3233	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1068K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1068	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATTTCAGATTGAAAACATCAA	0.468000													55	54					0	0	0.014410	0	0
PDZD7	79955	broad.mit.edu	37	10	102781561	102781561	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:102781561G>A	ENST00000370215.3	-	6	1086	c.861C>T	c.(859-861)acC>acT	p.T287T		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	287	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCACCTTGATGGTCAGCATGA	0.567000													137	159					0	0	0.014410	0	0
AMPD1	270	broad.mit.edu	37	1	115221019	115221019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:115221019C>T	ENST00000369538.3	-	7	1161	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	AMPD1_ENST00000353928.6_Missense_Mutation_p.E343K|AMPD1_ENST00000520113.2_Missense_Mutation_p.E376K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	343					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCAAAAAGTTCCTTTAGGGTC	0.378000													104	146					0	0	0.014410	0	0
HCN1	348980	broad.mit.edu	37	5	45262042	45262042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:45262042C>T	ENST00000303230.4	-	8	2711	c.2654G>A	c.(2653-2655)cGa>cAa	p.R885Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	885						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAAGCAAATCGTGGCTTTTC	0.448000													78	231					0	0	0.014410	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863146	30863146	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:30863146C>T	ENST00000309052.4	+	7	1115	c.906C>T	c.(904-906)ctC>ctT	p.L302L	LCLAT1_ENST00000379509.3_Silent_p.L264L|LCLAT1_ENST00000540623.1_Silent_p.L264L|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	302					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ACCTTCAACTCTGGTGCCACA	0.498000													49	89					0	0	0.014410	0	0
UNC13B	10497	broad.mit.edu	37	9	35313969	35313969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35313969C>T	ENST00000378495.3	+	10	1372	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	UNC13B_ENST00000396787.1_Nonsense_Mutation_p.R396*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.R384*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	384					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TACCAAGGTTCGACTCCAGCT	0.438000													24	66					0	0	0.004656	0	0
SRCIN1	80725	broad.mit.edu	37	17	36707402	36707402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:36707402C>T	ENST00000264659.7	-	15	3175	c.2951G>A	c.(2950-2952)aGg>aAg	p.R984K	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R1018K|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	856					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGAGCCCCTCCTCCCACTGGG	0.697000													12	28					0	0	0.013537	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659422	176659422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:176659422C>T	ENST00000367662.3	+	5	3451	c.2287C>T	c.(2287-2289)Cca>Tca	p.P763S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P763S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	763					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						GGAGACAGTGCCATCCATGGA	0.552000													63	111					0	0	0.014410	0	0
HR	55806	broad.mit.edu	37	8	21977866	21977866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:21977866G>A	ENST00000381418.4	-	12	4245	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F	HR_ENST00000312841.8_Missense_Mutation_p.S922F	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	922							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCAGGCCAGGAGAAGCCCTC	0.677000													22	97					0	0	0.005443	0	0
PRX	57716	broad.mit.edu	37	19	40900362	40900362	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:40900362C>T	ENST00000324001.7	-	7	4167	c.3897G>A	c.(3895-3897)gaG>gaA	p.E1299E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1299					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTGTCCGGCCTCTCCCTCCC	0.682000													6	11					0	0	0.001984	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515737	140515737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140515737G>A	ENST00000231134.5	+	1	938	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		241	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCCCGAATTTTTACA	0.517000													183	287					0	0	0.014410	0	0
PVALB	5816	broad.mit.edu	37	22	37213031	37213031	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:37213031G>A	ENST00000216200.5	-	2	74	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	PVALB_ENST00000417718.2_Silent_p.L7L|CITF22-24E5.1_ENST00000417792.1_RNA	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	7							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCAGCGTTCAGCAAGTCTGTC	0.567000													26	64					0	0	0.008361	0	0
SLC38A4	55089	broad.mit.edu	37	12	47182399	47182399	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:47182399T>C	ENST00000447411.1	-	3	328	c.122A>G	c.(121-123)cAa>cGa	p.Q41R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.Q41R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	41					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATTAGCAAATTGACTGAACAC	0.353000													29	61					0	0	0.009535	0	0
TRMT2B	79979	broad.mit.edu	37	X	100291999	100291999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:100291999G>A	ENST00000338687.7	-	5	1172	c.367C>T	c.(367-369)Cca>Tca	p.P123S	TRMT2B_ENST00000372936.3_Missense_Mutation_p.P168S|TRMT2B_ENST00000545398.1_Missense_Mutation_p.P168S|TRMT2B_ENST00000372931.5_Missense_Mutation_p.P168S|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.P168S|TRMT2B_ENST00000372939.1_Missense_Mutation_p.P123S			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	168							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ACAGTCTTTGGATTGCCATCT	0.498000													55	73					0	0	0.014410	0	0
FRK	2444	broad.mit.edu	37	6	116325089	116325089	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:116325089G>A	ENST00000606080.1	-	2	863	c.417C>T	c.(415-417)tcC>tcT	p.S139S		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	139	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TGATTAGAAAGGAACCGGTCT	0.368000													8	16					0	0	0.004482	0	0
ASTN2	23245	broad.mit.edu	37	9	120053707	120053707	+	Silent	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:120053707G>T	ENST00000313400.4	-	2	628	c.528C>A	c.(526-528)tcC>tcA	p.S176S	ASTN2_ENST00000373996.3_Silent_p.S176S|ASTN2_ENST00000361209.2_Silent_p.S176S|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	176						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCTGCTCATGGAGACGTGGA	0.592000													31	89					6.97489e-18	7.1267e-18	0.004878	1	0
DCLK3	85443	broad.mit.edu	37	3	36779826	36779826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:36779826G>A	ENST00000416516.2	-	2	815	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	109						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTTCCCTGGGGGGCTTGCTA	0.567000													202	225					0	0	0.014410	0	0
MAML1	9794	broad.mit.edu	37	5	179201462	179201462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:179201462C>T	ENST00000292599.3	+	5	2898	c.2635C>T	c.(2635-2637)Ccg>Tcg	p.P879S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	879					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGTCTAGCCCGCAATTCTC	0.612000													22	45					0	0	0.014323	0	0
OR2D3	120775	broad.mit.edu	37	11	6942547	6942547	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6942547G>A	ENST00000317834.3	+	1	343	c.315G>A	c.(313-315)agG>agA	p.R105R		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGTAAAGAGGAAAACCATTT	0.418000													33	161					0	0	0.010818	0	0
RYR2	6262	broad.mit.edu	37	1	237777612	237777612	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:237777612C>T	ENST00000366574.2	+	37	5501	c.5184C>T	c.(5182-5184)ccC>ccT	p.P1728P	RYR2_ENST00000360064.6_Silent_p.P1726P|RYR2_ENST00000542537.1_Silent_p.P1712P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1728	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATTGTCCCCATGACGGAGG	0.557000													16	31					0	0	0.004007	0	0
ARAP2	116984	broad.mit.edu	37	4	36168569	36168569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:36168569G>A	ENST00000303965.4	-	10	2447	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	653	PH 2.				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						ACTCCTGTAGGGAGTGATTAT	0.358000													8	43					0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100684180	100684180	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100684180A>G	ENST00000306151.4	+	3	9547	c.9483A>G	c.(9481-9483)gaA>gaG	p.E3161E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3161	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCTAGTGAAGGAAGTACTC	0.493000													214	501					0	0	0.014410	0	0
LOC653786	653786	broad.mit.edu	37	16	22563783	22563783	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:22563783C>T	ENST00000550753.1	+	0	1438					NR_003676.2																						GGCTGTCTTTCAGTCTGTTCG	0.483000													21	158					0	0	0.010504	0	0
MACF1	23499	broad.mit.edu	37	1	39750861	39750861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:39750861C>T	ENST00000564288.1	+	12	2015	c.1238C>T	c.(1237-1239)tCa>tTa	p.S413L	MACF1_ENST00000539005.1_Missense_Mutation_p.S418L|MACF1_ENST00000317713.7_Missense_Mutation_p.S418L|MACF1_ENST00000361689.2_Missense_Mutation_p.S418L|MACF1_ENST00000372915.3_Missense_Mutation_p.S418L|MACF1_ENST00000545844.1_Missense_Mutation_p.S418L|MACF1_ENST00000567887.1_Missense_Mutation_p.S450L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	418					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGAGAGAAATCACTTCGGCCG	0.453000													38	83					0	0	0.004289	0	0
PRSS8	5652	broad.mit.edu	37	16	31144211	31144211	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:31144211C>T	ENST00000317508.6	-	4	593	c.330G>A	c.(328-330)gaG>gaA	p.E110E	PRSS8_ENST00000568261.1_Intron	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	110	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						CCTTGGCGTCCTCGGAGTAGG	0.632000													43	231					0	0	0.008740	0	0
DNAH7	56171	broad.mit.edu	37	2	196661370	196661370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196661370C>T	ENST00000312428.6	-	56	10545	c.10445G>A	c.(10444-10446)gGa>gAa	p.G3482E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3482	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACCCATGTTCCTTCCTTGAC	0.418000													17	46					0	0	0.004990	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656093	29656093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:29656093C>T	ENST00000216085.7	-	7	1541	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R		NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	373						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						CCACCCTTTCCATGGGTCACC	0.672000													4	10					0	0	0.000602	0	0
GIPC3	126326	broad.mit.edu	37	19	3586991	3586991	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:3586991C>T	ENST00000322315.5	+	3	636	c.592_splice	c.e3+1	p.F197_splice		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	197										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGGCCTTCGGTGAGGCGG	0.677000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	31					0	0	0.003163	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73187937	73187937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:73187937G>A	ENST00000545377.1	+	27	3624	c.3448G>A	c.(3448-3450)Gag>Aag	p.E1150K	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E837K|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.E114K	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TGCTAATGAGGAGAGAGGAAT	0.418000													10	7					0	0	0.008291	0	0
MECOM	2122	broad.mit.edu	37	3	168833467	168833467	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:168833467C>T	ENST00000464456.1	-	7	2829	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	MECOM_ENST00000494292.1_Silent_p.K731K|MECOM_ENST00000460814.1_Silent_p.K543K|MECOM_ENST00000468789.1_Silent_p.K543K|MECOM_ENST00000433243.2_Silent_p.K544K|MECOM_ENST00000264674.3_Silent_p.K608K|MECOM_ENST00000472280.1_Silent_p.K544K|MECOM_ENST00000392736.3_Silent_p.K543K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	53							sequence-specific DNA binding transcription factor activity	p.K543K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGCAGTTTCTTTACTTCAC	0.473000													59	79					0	0	0.014410	0	0
RIPK4	54101	broad.mit.edu	37	21	43176946	43176946	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:43176946C>T	ENST00000352483.2	-	2	277	c.213G>A	c.(211-213)aaG>aaA	p.K71K	RIPK4_ENST00000544709.1_Silent_p.K8K|RIPK4_ENST00000542057.1_Silent_p.K8K|RIPK4_ENST00000332512.3_Silent_p.K71K			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	71						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.K71K(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCTCCATCTTCTTGGCTTCTT	0.537000													27	68					0	0	0.005443	0	0
LOC645166	645166	broad.mit.edu	37	1	148932875	148932875	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:148932875G>A	ENST00000539543.1	+	0	131					NR_027355.1																						GGTGGGAGACGGGTGAGGTAC	0.632000													21	386					0	0	0.002780	0	0
BRINP2	57795	broad.mit.edu	37	1	177245506	177245506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177245506G>A	ENST00000361539.4	+	6	1260	c.948G>A	c.(946-948)atG>atA	p.M316I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		316						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCCAGGCCATGGAGGACAGCC	0.577000													25	68					0	0	0.003954	0	0
C4B	721	broad.mit.edu	37	6	31997489	31997489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31997489C>T	ENST00000435363.2	+	29	3907	c.3823C>T	c.(3823-3825)Cac>Tac	p.H1275Y	C4B_ENST00000425700.2_Missense_Mutation_p.H1275Y	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1275					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										CCTCCTGCTTCACGAGGGCAA	0.672000													20	132					0	0	0.003271	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617587	54617587	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:54617587A>C	ENST00000302287.3	+	4	764	c.358A>C	c.(358-360)Aag>Cag	p.K120Q	VSTM2A_ENST00000407838.3_Missense_Mutation_p.K120Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.K120Q|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.K119Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.K120Q			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	120	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AGTGAGGAAAAAGGATGAAGG	0.443000													15	40					0	0	0.004990	0	0
HOXA3	3200	broad.mit.edu	37	7	27149927	27149927	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:27149927G>A	ENST00000396352.4	-	2	532	c.333C>T	c.(331-333)ccC>ccT	p.P111P	HOXA3_ENST00000317201.2_Silent_p.P111P|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	111	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						taggtgcagggggctgaggtg	0.746000													3	21					0	0	0.009096	0	0
MYH1	4619	broad.mit.edu	37	17	10418209	10418209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10418209C>T	ENST00000226207.5	-	6	603	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	170	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R170L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGATTCTCCCGATCTAGAAG	0.323000													39	78					0	0	0.009718	0	0
CYB5RL	606495	broad.mit.edu	37	1	54640376	54640376	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:54640376G>A	ENST00000419823.2	-	7	1088	c.864C>T	c.(862-864)gtC>gtT	p.V288V	CYB5RL_ENST00000537208.1_Silent_p.V220V|CYB5RL_ENST00000534324.1_Silent_p.V288V|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000401046.3_Silent_p.V140V|CYB5RL_ENST00000542737.1_Silent_p.V288V|CYB5RL_ENST00000287899.8_Silent_p.V220V	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	288							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CCGAGCCACAGACCAGTGCGA	0.547000													15	40					0	0	0.002450	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696505	17696505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:17696505C>T	ENST00000399080.2	-	1	3201	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1060										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAGGAACTTCCTGTTCTCCA	0.348000													15	28					0	0	0.002450	0	0
SRBD1	55133	broad.mit.edu	37	2	45829063	45829063	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:45829063G>A	ENST00000263736.4	-	3	302	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	80	Poly-Val.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TAACAACAACGACTTCTGAGC	0.483000													59	219					0	0	0.014410	0	0
B4GALNT3	283358	broad.mit.edu	37	12	659062	659062	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:659062G>A	ENST00000266383.5	+	10	994	c.981G>A	c.(979-981)cgG>cgA	p.R327R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	327						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGACCCCCGGGACACCCTCT	0.642000													14	22					0	0	0.001855	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281793	71281793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:71281793C>T	ENST00000335793.3	-	2	1241	c.847G>A	c.(847-849)Gat>Aat	p.D283N	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.D213N|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	283					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CACCCCTCATCCTCCAGAGCA	0.721000													18	37					0	0	0.004990	0	0
GRIP1	23426	broad.mit.edu	37	12	66911703	66911703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:66911703G>A	ENST00000359742.4	-	6	796	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	GRIP1_ENST00000398016.3_Missense_Mutation_p.R186C|GRIP1_ENST00000286445.7_Missense_Mutation_p.R186C			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	186	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCTCCAGGACGAACACATGTT	0.383000													21	35					0	0	0.012319	0	0
OR10J5	127385	broad.mit.edu	37	1	159505366	159505366	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159505366C>T	ENST00000334857.2	-	1	476	c.432G>A	c.(430-432)ctG>ctA	p.L144L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ACCCACACACCAGCTGGGCAC	0.507000													40	68					0	0	0.006230	0	0
ITSN1	6453	broad.mit.edu	37	21	35186232	35186232	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:35186232G>A	ENST00000381318.3	+	22	2871	c.2583G>A	c.(2581-2583)acG>acA	p.T861T	ITSN1_ENST00000399349.1_Silent_p.T856T|ITSN1_ENST00000399367.3_Silent_p.T856T|ITSN1_ENST00000399353.1_Silent_p.T819T|ITSN1_ENST00000399326.3_Silent_p.T856T|ITSN1_ENST00000399352.1_Silent_p.T856T|ITSN1_ENST00000399355.2_Silent_p.T861T|ITSN1_ENST00000399338.4_Silent_p.T856T|ITSN1_ENST00000379960.5_Silent_p.T856T|ITSN1_ENST00000381291.4_Silent_p.T861T|ITSN1_ENST00000381285.4_Silent_p.T861T|ITSN1_ENST00000437442.2_Silent_p.T856T|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	861					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCACCAGCACGAATGAGAAAC	0.498000													22	72					0	0	0.012319	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955789	18955789	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:18955789G>A	ENST00000302797.3	-	1	767	c.543C>T	c.(541-543)gtC>gtT	p.V181V	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	181					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGCCACGCGACTGTGATGA	0.527000													20	122					0	0	0.007413	0	0
MYO5C	55930	broad.mit.edu	37	15	52567770	52567770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:52567770G>A	ENST00000261839.7	-	5	756	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	MYO5C_ENST00000443683.2_Missense_Mutation_p.P142S|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	199	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCGGTGATGGGATTGGATGCC	0.557000													51	133					0	0	0.014410	0	0
GMPR2	51292	broad.mit.edu	37	14	24706339	24706339	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24706339C>T	ENST00000557854.1	+	5	859	c.582C>T	c.(580-582)atC>atT	p.I194I	GMPR2_ENST00000355299.4_Silent_p.I176I|GMPR2_ENST00000559836.1_Silent_p.I176I|GMPR2_ENST00000420554.2_Silent_p.I194I|GMPR2_ENST00000399440.2_Silent_p.I176I|GMPR2_ENST00000456667.3_Silent_p.I148I|GMPR2_ENST00000559910.1_Silent_p.I143I|GMPR2_ENST00000559104.1_Silent_p.I161I|GMPR2_ENST00000348719.7_Silent_p.I176I|GMPR2_ENST00000560517.1_3'UTR			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	176					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		CTGACATCATCAAAGTGGGAA	0.512000													48	162					0	0	0.014410	0	0
SELV	348303	broad.mit.edu	37	19	40006639	40006639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:40006639G>A	ENST00000423711.1	+	1	887	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	SELV_ENST00000335426.4_Missense_Mutation_p.V263I			P59797	SELV_HUMAN		263					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGACAAGAGGGTCCTGATTCG	0.642000													5	12					0	0	0.001984	0	0
BICD1	636	broad.mit.edu	37	12	32487577	32487577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:32487577C>T	ENST00000548411.1	+	6	2409	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	BICD1_ENST00000281474.5_Missense_Mutation_p.S743F	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	743	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACCTTCTCATCCCTGAGAGCA	0.408000													49	134					0	0	0.014410	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751307	26751307	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:26751307C>T	ENST00000396641.2	+	2	736	c.144C>T	c.(142-144)gtC>gtT	p.V48V	LRRC3B_ENST00000456208.2_Silent_p.V48V|LRRC3B_ENST00000417744.1_Silent_p.V48V	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	48	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTTTAAATGTCACCTGTAGCA	0.423000													44	47					0	0	0.011902	0	0
F10	2159	broad.mit.edu	37	13	113783846	113783846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:113783846G>A	ENST00000375559.3	+	2	189	c.151G>A	c.(151-153)Gga>Aga	p.G51R	F10_ENST00000409306.1_Missense_Mutation_p.G51R|F10_ENST00000483537.1_3'UTR|F10_ENST00000375551.3_Missense_Mutation_p.G51R	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	51	Gla.		G -> V (in FA10D).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGAAGAAAGGACACCTCGA	0.562000													129	66					0	0	0.014410	0	0
GBP2	2634	broad.mit.edu	37	1	89582689	89582689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:89582689G>A	ENST00000370466.3	-	6	1122	c.854C>T	c.(853-855)cCa>cTa	p.P285L	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	285			P -> A (in dbSNP:rs1803632).		interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCCATTGACTGGAATGCCACC	0.458000													33	59					0	0	0.003755	0	0
CALCRL	10203	broad.mit.edu	37	2	188216924	188216924	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:188216924A>G	ENST00000409998.1	-	14	1826	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.F349L|CALCRL_ENST00000392370.3_Missense_Mutation_p.F349L|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	349						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATCAGCACAAATTCAATGCCA	0.428000													7	14					0	0	0.003080	0	0
PTPN3	5774	broad.mit.edu	37	9	112172630	112172630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:112172630G>A	ENST00000412145.1	-	10	3539	c.986C>T	c.(985-987)cCa>cTa	p.P329L	PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.P284L|PTPN3_ENST00000374541.2_Missense_Mutation_p.P460L|PTPN3_ENST00000262539.3_Missense_Mutation_p.P306L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	460					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						ATTTGAAGATGGAGACACAGA	0.522000													44	111					0	0	0.013114	0	0
TTN	7273	broad.mit.edu	37	2	179640452	179640452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179640452C>T	ENST00000589042.1	-	28	6363	c.6139G>A	c.(6139-6141)Gaa>Aaa	p.E2047K	TTN_ENST00000591111.1_Missense_Mutation_p.E2047K|TTN_ENST00000460472.2_Missense_Mutation_p.E2001K|TTN_ENST00000360870.5_Missense_Mutation_p.E2047K|TTN_ENST00000359218.5_Missense_Mutation_p.E2001K|TTN_ENST00000342992.6_Missense_Mutation_p.E2047K|TTN_ENST00000342175.6_Missense_Mutation_p.E2001K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1808							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)			TTTTCCTCTTCAGTTAACTCT	0.423000													34	90					0	0	0.003271	0	0
TSPAN2	10100	broad.mit.edu	37	1	115601542	115601542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:115601542C>T	ENST00000369516.2	-	5	437	c.406G>A	c.(406-408)Gga>Aga	p.G136R	TSPAN2_ENST00000369515.2_Missense_Mutation_p.G111R|TSPAN2_ENST00000369514.2_Missense_Mutation_p.G136R	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	136						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TTGCCTTTTCCCCTGTCTTTA	0.423000													129	189					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179634635	179634635	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179634635G>A	ENST00000589042.1	-	37	8897	c.8673C>T	c.(8671-8673)atC>atT	p.I2891I	TTN_ENST00000591111.1_Silent_p.I2891I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I2845I|TTN_ENST00000360870.5_Silent_p.I2891I|TTN_ENST00000359218.5_Silent_p.I2845I|TTN_ENST00000342992.6_Silent_p.I2891I|TTN_ENST00000342175.6_Silent_p.I2845I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2629	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGCACCTCGATATTTTTCA	0.373000													36	80					0	0	0.005524	0	0
SYTL1	84958	broad.mit.edu	37	1	27679920	27679920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:27679920G>A	ENST00000543823.1	+	13	1952	c.1490G>A	c.(1489-1491)tGg>tAg	p.W497*	SYTL1_ENST00000318074.5_Nonsense_Mutation_p.W485*|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	497	C2 2.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCCCTCTGGGACCATGGG	0.667000													11	33					0	0	0.001855	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687268	8687268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:8687268C>T	ENST00000299663.3	-	6	791	c.626G>A	c.(625-627)gGa>gAa	p.G209E	CLEC4E_ENST00000545274.1_Missense_Mutation_p.G164E|CLEC4E_ENST00000446457.2_3'UTR	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	209						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AGGATTTATTCCTACCATTTC	0.423000													28	74					0	0	0.007291	0	0
GLG1	2734	broad.mit.edu	37	16	74524939	74524939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:74524939C>T	ENST00000422840.2	-	8	1408	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	GLG1_ENST00000447066.2_Missense_Mutation_p.R459Q|GLG1_ENST00000205061.5_Missense_Mutation_p.R470Q	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	470						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						CTTCTCCCCTCGAACTACTTT	0.493000													23	132					0	0	0.003330	0	0
ITPR1	3708	broad.mit.edu	37	3	4732914	4732914	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:4732914C>T	ENST00000302640.8	+	31	4220	c.3870C>T	c.(3868-3870)ttC>ttT	p.F1290F	ITPR1_ENST00000357086.4_Silent_p.F1296F|ITPR1_ENST00000456211.2_Silent_p.F1281F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.F1290F|ITPR1_ENST00000423119.2_Silent_p.F1296F|ITPR1_ENST00000354582.6_Silent_p.F1305F	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1305					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCAGCACTTCGTTCACTGCA	0.428000													10	58					0	0	0.006214	0	0
KLHL32	114792	broad.mit.edu	37	6	97562220	97562220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:97562220G>A	ENST00000369261.4	+	7	1552	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	KLHL32_ENST00000536676.1_Missense_Mutation_p.E361K|KLHL32_ENST00000539200.1_Missense_Mutation_p.E328K|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	397										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGGTGCCATGGAGGAATACCT	0.517000													20	25					0	0	0.010504	0	0
ARAP3	64411	broad.mit.edu	37	5	141051140	141051140	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:141051140G>A	ENST00000239440.4	-	12	1916	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	ARAP3_ENST00000508305.1_Silent_p.L539L|ARAP3_ENST00000513878.1_Silent_p.L279L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	617					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTCCTACCTGGAGAAGCTGGC	0.592000													28	43					0	0	0.008361	0	0
FAM47B	170062	broad.mit.edu	37	X	34960955	34960955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:34960955G>A	ENST00000329357.5	+	1	43	c.7G>A	c.(7-9)Gac>Aac	p.D3N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	3										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CACCATGGGGGACCGGAGGCC	0.627000													7	13					0	0	0.003080	0	0
PON1	5444	broad.mit.edu	37	7	94940786	94940786	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:94940786G>A	ENST00000222381.3	-	5	705	c.474C>T	c.(472-474)acC>acT	p.T158T	PON1_ENST00000542556.1_Silent_p.T158T	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	158					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TATGTCTGATGGTTTTTAGAT	0.378000													40	109					0	0	0.009718	0	0
ROBO1	6091	broad.mit.edu	37	3	78680377	78680377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:78680377G>A	ENST00000436010.2	-	23	4440	c.3443C>T	c.(3442-3444)cCt>cTt	p.P1148L	ROBO1_ENST00000467549.1_Missense_Mutation_p.P1087L|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1187L|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1142L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1187					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGGGAGGAGGAAGCAGGTC	0.478000													13	15					0	0	0.001855	0	0
IGLV2-14	28815	broad.mit.edu	37	22	23101590	23101590	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:23101590C>T	ENST00000390312.2	+	0	285																											GGTTTCTAATCGCTTCTCTGG	0.522000													124	417					0	0	0.014410	0	0
OR1C1	26188	broad.mit.edu	37	1	247921140	247921140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:247921140G>A	ENST00000408896.2	-	1	842	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGAGACGTCAGAGCAAGAGAG	0.458000													5	30					0	0	0.000602	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603517	48603517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48603517G>A	ENST00000323776.5	+	14	2349	c.2187G>A	c.(2185-2187)atG>atA	p.M729I	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.M692I	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	692					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGAGCATCATGGAGGAGATCC	0.627000													57	154					0	0	0.014410	0	0
NOL8	55035	broad.mit.edu	37	9	95078256	95078256	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:95078256G>A	ENST00000545558.1	-	7	1143	c.651C>T	c.(649-651)ccC>ccT	p.P217P	NOL8_ENST00000358855.4_Silent_p.P149P|NOL8_ENST00000542053.1_Silent_p.P149P|NOL8_ENST00000535387.1_Silent_p.P217P|NOL8_ENST00000442668.2_Silent_p.P217P			Q76FK4	NOL8_HUMAN	nucleolar protein 8	217					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTATCTTCTTGGGAGGGCCAT	0.488000													18	40					0	0	0.004990	0	0
HECTD1	25831	broad.mit.edu	37	14	31626090	31626090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:31626090G>A	ENST00000399332.1	-	12	2376	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	HECTD1_ENST00000553700.1_Missense_Mutation_p.P630S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	630					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCAGAGGAAGGACCTGCCAAC	0.363000													31	85					0	0	0.013726	0	0
PDE1B	5153	broad.mit.edu	37	12	54969363	54969363	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:54969363C>A	ENST00000243052.3	+	12	1650	c.1214C>A	c.(1213-1215)cCc>cAc	p.P405H	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.P364H|PDE1B_ENST00000550620.1_Missense_Mutation_p.P385H|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	405	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.P405H(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TTGGGCCTGCCCTTTTCTCCA	0.572000													49	174					1.07234e-20	1.09732e-20	0.014410	1	0
SFXN3	81855	broad.mit.edu	37	10	102795274	102795274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:102795274G>A	ENST00000393459.1	+	4	655	c.182G>A	c.(181-183)gGg>gAg	p.G61E	SFXN3_ENST00000224807.5_Missense_Mutation_p.G65E			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	65					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GTGACCCCAGGGATCACCGAG	0.642000													39	41					0	0	0.011902	0	0
OR51A4	401666	broad.mit.edu	37	11	4967863	4967863	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4967863G>A	ENST00000380373.2	-	1	493	c.468C>T	c.(466-468)ctC>ctT	p.L156L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAACCAGGAGCATGCTCT	0.428000													10	297					0	0	0.003163	0	0
TNP1	7141	broad.mit.edu	37	2	217724400	217724400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:217724400G>A	ENST00000236979.2	-	2	187	c.158C>T	c.(157-159)tCc>tTc	p.S53F	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	53					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACAAGTGGGAGCGGTAATT	0.522000													36	92					0	0	0.006999	0	0
FGFR3	2261	broad.mit.edu	37	4	1801056	1801056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:1801056C>T	ENST00000340107.4	+	3	441	c.185C>T	c.(184-186)cCc>cTc	p.P62L	FGFR3_ENST00000352904.1_Missense_Mutation_p.P62L|FGFR3_ENST00000481110.2_Missense_Mutation_p.P62L|FGFR3_ENST00000412135.2_Missense_Mutation_p.P62L|FGFR3_ENST00000440486.2_Missense_Mutation_p.P62L|FGFR3_ENST00000260795.2_Missense_Mutation_p.P62L	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	62	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTGAGCTGTCCCCCGCCCGGG	0.697000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				30	120					0	0	0.009535	0	0
PRDM9	56979	broad.mit.edu	37	5	23510112	23510112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:23510112G>A	ENST00000296682.3	+	4	459	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	93					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGATTCTGATGAAGAATGGAC	0.443000										HNSCC(3;0.000094)			24	95					0	0	0.003954	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078157	90078157	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:90078157C>T	ENST00000390270.2	+	0	291																											GGCCTGGCGCCCAGGCTCCTC	0.587000													47	37					0	0	0.013114	0	0
CAPN13	92291	broad.mit.edu	37	2	30961278	30961278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:30961278C>T	ENST00000295055.8	-	16	1758	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E528K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	528					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.E528K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTTAGAAGCTCCTGGTTGAGA	0.557000													5	18					0	0	0.000602	0	0
IL20RB	53833	broad.mit.edu	37	3	136714374	136714374	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:136714374C>T	ENST00000329582.4	+	6	1050	c.801C>T	c.(799-801)ccC>ccT	p.P267P	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	267						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGTTGCCCCGTGGTGGTCC	0.522000													233	318					0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	41725649	41725649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:41725649G>A	ENST00000400454.1	-	5	1154	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	226	Ig-like C2-type 3.				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)				ATCCAGTATGGATGGGGCTGA	0.512000													9	14					0	0	0.006214	0	0
PARK2	5071	broad.mit.edu	37	6	161807861	161807861	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:161807861T>C	ENST00000366898.1	-	10	1234	c.1132A>G	c.(1132-1134)Agt>Ggt	p.S378G	PARK2_ENST00000366897.1_Missense_Mutation_p.S350G|PARK2_ENST00000366894.1_Missense_Mutation_p.S187G|PARK2_ENST00000338468.3_Missense_Mutation_p.S187G|PARK2_ENST00000366896.1_Missense_Mutation_p.S229G	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	378					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AATACGGCACTGCACTCCCCT	0.493000													44	64					0	0	0.014410	0	0
USP17L2	377630	broad.mit.edu	37	8	11995291	11995291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:11995291C>T	ENST00000333796.3	-	1	1295	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	327					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CAACTCCACCCAGCGTGGACC	0.488000													12	59					0	0	0.001855	0	0
CABP5	56344	broad.mit.edu	37	19	48547171	48547171	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:48547171G>A	ENST00000293255.2	-	1	139	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	3					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GGCCCATGGGGAACTGCATGG	0.642000													21	26					0	0	0.012319	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648700	41648700	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:41648700C>T	ENST00000313860.7	+	12	1509	c.1455C>T	c.(1453-1455)ccC>ccT	p.P485P	LIMCH1_ENST00000509277.1_Silent_p.P319P|LIMCH1_ENST00000508501.1_Silent_p.P485P|LIMCH1_ENST00000512632.1_Silent_p.P485P|LIMCH1_ENST00000513024.1_Silent_p.P314P|LIMCH1_ENST00000503057.1_Silent_p.P870P|LIMCH1_ENST00000514096.1_Silent_p.P326P|LIMCH1_ENST00000381753.4_Silent_p.P319P|LIMCH1_ENST00000512820.1_Silent_p.P473P|LIMCH1_ENST00000511496.1_Silent_p.P326P|LIMCH1_ENST00000396595.3_Silent_p.P331P|LIMCH1_ENST00000512946.1_Silent_p.P485P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	485					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACCCCAATCCCATGAAATACC	0.488000													65	431					0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196749422	196749422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196749422G>A	ENST00000312428.6	-	35	5750	c.5650C>T	c.(5650-5652)Cga>Tga	p.R1884*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1884					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						TTTCGAGTTCGATCTGAAATT	0.358000													39	75					0	0	0.005524	0	0
CCL24	6369	broad.mit.edu	37	7	75441266	75441266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:75441266C>T	ENST00000416943.1	-	4	301	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	CCL24_ENST00000222902.2_Missense_Mutation_p.G70S	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	70					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						AACTGCTGGCCCTTCTTGGTG	0.612000													24	84					0	0	0.007291	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950372	123950372	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:123950372C>T	ENST00000526639.2	+	2	864	c.285C>T	c.(283-285)gcC>gcT	p.A95A	SNRNP35_ENST00000412157.2_Silent_p.A100A|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Silent_p.A95A	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	95	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGGCTACGCCTTCATCGAAT	0.512000													49	93					0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	114186060	114186060	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:114186060G>A	ENST00000297405.5	-	4	844	c.600C>T	c.(598-600)atC>atT	p.I200I	CSMD3_ENST00000343508.3_Silent_p.I160I|CSMD3_ENST00000352409.3_Silent_p.I200I|CSMD3_ENST00000455883.2_Silent_p.I200I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	200	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTGTAGCGGATCTTGTCCC	0.463000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	64					0	0	0.001855	0	0
ZNF582	147948	broad.mit.edu	37	19	56896435	56896435	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56896435A>T	ENST00000301310.4	-	5	509	c.351T>A	c.(349-351)agT>agA	p.S117R	ZNF582_ENST00000586929.1_Missense_Mutation_p.S117R	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CATCTTGGAAACTTGAACACT	0.403000													55	80					0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57326831	57326831	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:57326831C>T	ENST00000326441.9	-	10	3342	c.2979G>A	c.(2977-2979)agG>agA	p.R993R	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.R869R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.R867R|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.R993R|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	993					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGCTTCTCCCTATCATGAA	0.498000													26	36					0	0	0.004656	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964106	88964106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:88964106G>A	ENST00000333190.4	+	4	2419	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	604						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAACTTAAGGAAGCTTCAAG	0.378000										HNSCC(36;0.09)			13	37					0	0	0.013537	0	0
COL17A1	1308	broad.mit.edu	37	10	105816879	105816879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:105816879C>T	ENST00000353479.5	-	17	1609	c.1319G>A	c.(1318-1320)gGt>gAt	p.G440D	COL17A1_ENST00000369733.3_Missense_Mutation_p.G440D	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	440	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		gccaccaacaccgccacctcc	0.647000													34	49					0	0	0.010818	0	0
NPY1R	4886	broad.mit.edu	37	4	164247687	164247687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:164247687G>A	ENST00000296533.2	-	2	551	c.20C>T	c.(19-21)tCc>tTc	p.S7F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	7					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCAACCTGGGAAAATAATGT	0.358000													25	47					0	0	0.003330	0	0
CELSR2	1952	broad.mit.edu	37	1	109816201	109816201	+	Silent	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:109816201C>A	ENST00000271332.3	+	33	8714	c.8653C>A	c.(8653-8655)Cgg>Agg	p.R2885R	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2885					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCACCGCCCCGGCAGAGCCT	0.697000													41	53					4.67007e-22	4.78026e-22	0.008740	1	0
XIRP2	129446	broad.mit.edu	37	2	168099832	168099832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:168099832C>T	ENST00000409195.1	+	9	2019	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P422S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P644S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	469					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						AGAGAAAATTCCTGAGCTAGC	0.433000													22	47					0	0	0.010504	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819878	159819878	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:159819878G>A	ENST00000497452.1	-	0	517																											CCACATTTGCGAATATCAGCA	0.423000													62	84					0	0	0.014410	0	0
JADE3	9767	broad.mit.edu	37	X	46913940	46913940	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:46913940G>A	ENST00000218343.4	+	9	1651	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	PHF16_ENST00000397189.1_Silent_p.E451E	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		451					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTCCAAAGGAGGATGAAGAAA	0.458000													17	21					0	0	0.004007	0	0
OR51S1	119692	broad.mit.edu	37	11	4869952	4869952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4869952G>A	ENST00000322101.2	-	1	562	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGATGGAGACCCAGGCAT	0.557000													11	94					0	0	0.008291	0	0
FER1L6	654463	broad.mit.edu	37	8	124992918	124992918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:124992918C>T	ENST00000522917.1	+	11	1483	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	FER1L6_ENST00000399018.1_Missense_Mutation_p.S426F	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	426						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)			AAGTTGCCTTCCAAGGACAAA	0.448000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	67					0	0	0.012319	0	0
PTPN22	26191	broad.mit.edu	37	1	114401659	114401659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:114401659C>T	ENST00000359785.5	-	3	373	c.238G>A	c.(238-240)Gag>Aag	p.E80K	PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000525799.1_Missense_Mutation_p.E80K|PTPN22_ENST00000420377.2_Missense_Mutation_p.E80K|PTPN22_ENST00000460620.1_Missense_Mutation_p.E80K|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000528414.1_Missense_Mutation_p.E80K	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	80	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAATCCTCATCAGAGGTT	0.378000													20	78					0	0	0.002780	0	0
RASSF9	9182	broad.mit.edu	37	12	86199465	86199465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:86199465G>A	ENST00000361228.3	-	2	691	c.323C>T	c.(322-324)cCc>cTc	p.P108L		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	108	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCATATTGGGCTGCTCATC	0.443000													50	154					0	0	0.014410	0	0
CCKBR	887	broad.mit.edu	37	11	6292693	6292693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6292693G>A	ENST00000525462.1	+	4	1474	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	CCKBR_ENST00000532715.1_Missense_Mutation_p.D338N|CCKBR_ENST00000334619.2_Missense_Mutation_p.D422N			P32239	GASR_HUMAN	cholecystokinin B receptor	422					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GGCTCTTCCCGATGAGGACCC	0.657000													18	106					0	0	0.006122	0	0
PVRL1	5818	broad.mit.edu	37	11	119510622	119510622	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:119510622G>A	ENST00000341398.2	-	6	1103	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	24					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGTTGTACAGGAAGAAGACAG	0.642000													23	42					0	0	0.014323	0	0
CDH9	1007	broad.mit.edu	37	5	26881634	26881634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:26881634C>T	ENST00000231021.4	-	12	2153	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCGCCTTCATCGTTGTAGGTC	0.438000													30	79					0	0	0.010818	0	0
MEIS1	4211	broad.mit.edu	37	2	66667712	66667712	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:66667712C>T	ENST00000488550.1	+	4	699	c.400C>T	c.(400-402)Cta>Tta	p.L134L	MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000407092.2_Silent_p.L134L|MEIS1_ENST00000272369.9_Silent_p.L134L|MEIS1_ENST00000444274.2_Silent_p.L102L|MEIS1_ENST00000560281.2_Silent_p.L134L|MEIS1_ENST00000398506.2_Silent_p.L132L|MEIS1_ENST00000495021.2_Silent_p.L69L			O00470	MEIS1_HUMAN	Meis homeobox 1	134							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGAAAAACCTCTATTTTCTTC	0.502000													16	48					0	0	0.008871	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508789	24508789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:24508789C>T	ENST00000376454.3	+	2	335	c.305C>T	c.(304-306)cCc>cTc	p.P102L	KIAA1217_ENST00000376462.1_Missense_Mutation_p.P22L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P102L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P102L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	102					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAGAAGTACCCCCACCACGCC	0.502000													29	48					0	0	0.007291	0	0
VPS13D	55187	broad.mit.edu	37	1	12333117	12333117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12333117C>T	ENST00000358136.3	+	18	2291	c.2161C>T	c.(2161-2163)Cct>Tct	p.P721S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P721S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	721					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTGATATTTCCTGATGATTT	0.423000													29	93					0	0	0.009535	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112591	148112591	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148112591C>T	ENST00000361727.3	+	24	4395	c.3879C>T	c.(3877-3879)taC>taT	p.Y1293Y	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.Y352Y	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1293					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGGCACCTACCATACCAACG	0.547000										HNSCC(39;0.1)			29	76					0	0	0.009535	0	0
CMA1	1215	broad.mit.edu	37	14	24975306	24975306	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24975306G>A	ENST00000250378.3	-	4	557	c.528C>T	c.(526-528)agC>agT	p.S176S	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Silent_p.S65S	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	176	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CTCTGAAGTGGCTGCAGGCCT	0.537000													15	37					0	0	0.002450	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637314	18637314	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:18637314G>A	ENST00000336349.5	-	3	742	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	169										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GTAAATCAGTGAAGTTCATGG	0.468000													34	181					0	0	0.013726	0	0
OR6C1	390321	broad.mit.edu	37	12	55715093	55715093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55715093C>T	ENST00000379668.2	+	1	748	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGGCCTTTTCCACATGTTCT	0.378000													30	67					0	0	0.007291	0	0
CCDC19	25790	broad.mit.edu	37	1	159846350	159846350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159846350G>A	ENST00000426543.2	-	10	1548	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.L450F			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	450						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCCTACCGAAGAATCCTCTCG	0.527000													12	38					0	0	0.002450	0	0
GPM6B	2824	broad.mit.edu	37	X	13801602	13801602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:13801602G>A	ENST00000454189.2	-	3	357	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GPM6B_ENST00000316715.4_Missense_Mutation_p.S136F|GPM6B_ENST00000355135.2_Missense_Mutation_p.S136F|GPM6B_ENST00000356942.5_Missense_Mutation_p.S96F|GPM6B_ENST00000398361.3_Missense_Mutation_p.S10F|GPM6B_ENST00000493677.1_Missense_Mutation_p.S110F	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	96					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GAAGAAAAAGGACGCAATTCC	0.423000													58	66					0	0	0.014410	0	0
CASS4	57091	broad.mit.edu	37	20	55027248	55027248	+	Missense_Mutation	SNP	G	G	A	rs149703805	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:55027248G>A	ENST00000371336.3	+	5	1217	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	CASS4_ENST00000360314.3_Missense_Mutation_p.R339Q|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	339					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGATTCCCCGAGTGGAACAG	0.473000													51	98					0	0	0.014410	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013193	73013193	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:73013193C>T	ENST00000308744.6	+	4	1331	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.I309I|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.I312I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	411					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AACTGCAGATCATCAACATCT	0.473000													11	73					0	0	0.013537	0	0
PPFIA2	8499	broad.mit.edu	37	12	81660787	81660787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:81660787G>A	ENST00000550584.2	-	29	3794	c.3499C>T	c.(3499-3501)Ctt>Ttt	p.L1167F	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.L1066F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.L1155F|PPFIA2_ENST00000550359.2_Missense_Mutation_p.L1014F|PPFIA2_ENST00000548586.1_Missense_Mutation_p.L1161F|PPFIA2_ENST00000549396.1_Missense_Mutation_p.L1167F|PPFIA2_ENST00000443686.3_Missense_Mutation_p.L1062F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.L1146F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.L1152F|PPFIA2_ENST00000541017.1_Missense_Mutation_p.L353F|PPFIA2_ENST00000541570.2_Missense_Mutation_p.L703F	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1066										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTCTTTCAAGAATCTGCCTT	0.353000													10	37					0	0	0.008291	0	0
PROX2	283571	broad.mit.edu	37	14	75329636	75329636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:75329636C>T	ENST00000556489.2	-	1	901	c.902G>A	c.(901-903)gGa>gAa	p.G301E	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.G301E	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	301					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGATAAATTTCCTACTGGGAC	0.557000													62	143					0	0	0.014410	0	0
SLFN11	91607	broad.mit.edu	37	17	33679461	33679461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:33679461C>T	ENST00000394566.1	-	7	2892	c.2620G>A	c.(2620-2622)Gac>Aac	p.D874N	SLFN11_ENST00000308377.4_Missense_Mutation_p.D874N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	874						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAGCTGGGTCAGCTGTCCTT	0.478000													86	224					0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	71026020	71026020	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:71026020G>A	ENST00000393567.2	-	24	3888	c.3738C>T	c.(3736-3738)atC>atT	p.I1246I	HYDIN_ENST00000448089.2_Silent_p.I1198I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1246										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTAACTAGGATTGCTGGTG	0.458000													23	53					0	0	0.004656	0	0
TYRP1	7306	broad.mit.edu	37	9	12695584	12695584	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:12695584A>G	ENST00000388918.5	+	3	584	c.455A>G	c.(454-456)aAg>aGg	p.K152R	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	152					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GATATGGCAAAGCGCACAACT	0.423000									Oculocutaneous Albinism				24	72					0	0	0.004656	0	0
NR4A1	3164	broad.mit.edu	37	12	52451274	52451274	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52451274C>T	ENST00000545748.1	+	7	2657	c.1662C>T	c.(1660-1662)gtC>gtT	p.V554V	NR4A1_ENST00000360284.3_Silent_p.V513V|NR4A1_ENST00000394825.1_Silent_p.V500V|NR4A1_ENST00000394824.2_Silent_p.V500V|NR4A1_ENST00000550082.1_Silent_p.V513V|NR4A1_ENST00000243050.1_Silent_p.V500V			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	500					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTGTCGATGTCCCTGCCTTCG	0.612000													29	73					0	0	0.012213	0	0
SAMD9	54809	broad.mit.edu	37	7	92731247	92731247	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:92731247G>A	ENST00000379958.2	-	3	4433	c.4164C>T	c.(4162-4164)ttC>ttT	p.F1388F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1388						cytoplasm		p.F1388F(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGCCAAGATGAAATTTAGCT	0.358000													41	112					0	0	0.005524	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													5	87					0	0	0.001168	0	0
KRT75	9119	broad.mit.edu	37	12	52827961	52827961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52827961C>T	ENST00000252245.5	-	1	348	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	43	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCCCCACTCCCTGCTGCAGA	0.672000													31	97					0	0	0.009535	0	0
DNAH5	1767	broad.mit.edu	37	5	13727712	13727712	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13727712C>T	ENST00000265104.4	-	70	12041	c.11937G>A	c.(11935-11937)gaG>gaA	p.E3979E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3979					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)					GAGGTTCCTCCTCCGGGTTTT	0.418000									Kartagener syndrome				15	62					0	0	0.002450	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923181	159923181	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159923181C>T	ENST00000368093.3	-	2	425	c.309G>A	c.(307-309)gaG>gaA	p.E103E	SLAMF9_ENST00000368092.3_Silent_p.E103E|SLAMF9_ENST00000466773.1_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	103						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCTGAATCCTCCCAGCTCA	0.502000													51	128					0	0	0.014410	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357122	36357122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:36357122C>T	ENST00000360202.5	+	15	2053	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	KIRREL2_ENST00000262625.7_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P584S|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P599S	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	619					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCGAAGCCCCTGGAGGAGG	0.612000													51	79					0	0	0.014410	0	0
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	C	T	rs150656642		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21221024C>T	ENST00000574002.1	-	5	740	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	86					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)		AAGTGCAGTTCGGCATGTCGA	0.498000													12	47					0	0	0.013537	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39706162	39706162	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:39706162G>C	ENST00000553728.1	+	2	365	c.152G>C	c.(151-153)aGa>aCa	p.R51T	MIA2_ENST00000280082.3_Missense_Mutation_p.R51T|MIA2_ENST00000556784.1_Missense_Mutation_p.R51T																							AGAGATTATAGAGGACCTGAC	0.358000													17	34					0	0	0.010504	0	0
ZNF133	7692	broad.mit.edu	37	20	18296038	18296038	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:18296038C>T	ENST00000377671.3	+	7	1099	c.540C>T	c.(538-540)ctC>ctT	p.L180L	ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Silent_p.L184L|ZNF133_ENST00000402618.2_Silent_p.L118L|ZNF133_ENST00000401790.1_Silent_p.L181L|ZNF133_ENST00000538547.1_Silent_p.L86L|ZNF133_ENST00000316358.4_Silent_p.L181L|ZNF133_ENST00000535822.1_Silent_p.L86L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	181						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGAACGGCCTCAGAGGGGTGG	0.532000													61	139					0	0	0.014410	0	0
USP26	83844	broad.mit.edu	37	X	132161803	132161803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:132161803C>T	ENST00000511190.1	-	6	915	c.446G>A	c.(445-447)gGa>gAa	p.G149E	USP26_ENST00000370832.1_Missense_Mutation_p.G149E|USP26_ENST00000406273.1_Missense_Mutation_p.G149E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	149					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G149E(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGTCCCACTTCCTTTTGCTAT	0.393000													17	14					0	0	0.004007	0	0
SEMG2	6407	broad.mit.edu	37	20	43850988	43850988	+	Missense_Mutation	SNP	C	C	T	rs150189412	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:43850988C>T	ENST00000372769.3	+	2	805	c.715C>T	c.(715-717)Cat>Tat	p.H239Y		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	239	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AACTTCACTCCATCCTGCACA	0.378000													71	149					0	0	0.014410	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998818	8998818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:8998818G>A	ENST00000310455.3	-	2	494	c.344C>T	c.(343-345)tCc>tTc	p.S115F	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.S115F	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	115					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AGAGGGCTGGGAAAAATCCAG	0.498000													21	82					0	0	0.008871	0	0
GPC5	2262	broad.mit.edu	37	13	92345744	92345744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:92345744G>A	ENST00000377067.3	+	3	1001	c.629G>A	c.(628-630)aGa>aAa	p.R210K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	210						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTCCCCAAAGAGTAATGGGA	0.522000													18	28					0	0	0.006122	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19266161	19266161	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:19266161C>T	ENST00000454498.2	-	9	2285	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G	CSGALNACT1_ENST00000332246.6_Silent_p.G424G|CSGALNACT1_ENST00000522854.1_Silent_p.G424G|CSGALNACT1_ENST00000311540.4_Silent_p.G424G|CSGALNACT1_ENST00000544602.1_Silent_p.G424G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	424					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GACACGTCATCCCAAATCCAA	0.458000													20	124					0	0	0.012319	0	0
COL4A4	1286	broad.mit.edu	37	2	227892716	227892716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:227892716C>T	ENST00000396625.3	-	42	4190	c.3983G>A	c.(3982-3984)gGa>gAa	p.G1328E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1328E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1328	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCGGGAATCCCACTGGTCC	0.478000													7	17					0	0	0.001984	0	0
PCDH1	5097	broad.mit.edu	37	5	141233788	141233788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:141233788C>T	ENST00000287008.3	-	5	3680	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTTGGTGTTCCGGTCTTCCGG	0.652000													13	13					0	0	0.013537	0	0
CHD8	57680	broad.mit.edu	37	14	21862454	21862454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21862454G>A	ENST00000399982.2	-	30	5645	c.5581C>T	c.(5581-5583)Ccc>Tcc	p.P1861S	CHD8_ENST00000557364.1_Missense_Mutation_p.P1861S|CHD8_ENST00000430710.3_Missense_Mutation_p.P1582S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1861					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)		GCTGCTGGGGGAAGGCGGCAT	0.498000													22	76					0	0	0.004656	0	0
PGM1	5236	broad.mit.edu	37	1	64125272	64125272	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:64125272C>A	ENST00000371083.4	+	11	2037	c.1669C>A	c.(1669-1671)Ctt>Att	p.L557I	PGM1_ENST00000540265.1_Missense_Mutation_p.L342I|PGM1_ENST00000371084.3_Missense_Mutation_p.L539I	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	539					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTGGCCCCCCTTATTTCCAT	0.522000													30	71					3.90053e-15	3.98067e-15	0.012213	1	0
S100PBP	64766	broad.mit.edu	37	1	33292157	33292157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:33292157C>T	ENST00000373475.5	+	3	711	c.457C>T	c.(457-459)Cca>Tca	p.P153S	S100PBP_ENST00000373476.1_Missense_Mutation_p.P153S|S100PBP_ENST00000398243.3_Missense_Mutation_p.P153S|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	153						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACCATTTAATCCAACAGTTTG	0.393000													28	93					0	0	0.005443	0	0
OR51B6	390058	broad.mit.edu	37	11	5373596	5373596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5373596C>T	ENST00000380219.1	+	1	859	c.859C>T	c.(859-861)Cca>Tca	p.P287S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTTATGAACCCATTTATCTA	0.393000													16	111					0	0	0.003163	0	0
MAP2K1	5604	broad.mit.edu	37	15	66777515	66777515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:66777515G>A	ENST00000307102.5	+	7	1412	c.881G>A	c.(880-882)gGg>gAg	p.G294E	MAP2K1_ENST00000566326.1_Missense_Mutation_p.G118E	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	294	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AGGACCCCCGGGAGGCCCCTT	0.602000													17	44					0	0	0.006122	0	0
SCAF4	57466	broad.mit.edu	37	21	33074204	33074204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:33074204G>A	ENST00000286835.7	-	6	867	c.485C>T	c.(484-486)tCt>tTt	p.S162F	SCAF4_ENST00000434667.3_Missense_Mutation_p.S147F|SCAF4_ENST00000399804.1_Missense_Mutation_p.S162F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	162						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGGTTCAGAAGAAACTTTTAC	0.448000													20	51					0	0	0.008871	0	0
CTXN3	613212	broad.mit.edu	37	5	126993429	126993429	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:126993429G>A	ENST00000379445.3	+	3	767	c.216G>A	c.(214-216)gaG>gaA	p.E72E	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Silent_p.E72E	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	72						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		AAGGCCTGGAGAAAGGGCAGT	0.502000													16	34					0	0	0.004990	0	0
KCNK15	60598	broad.mit.edu	37	20	43379087	43379087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:43379087G>A	ENST00000372861.3	+	2	732	c.601G>A	c.(601-603)Ggc>Agc	p.G201S		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	201						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CACCACCATCGGCTTCGGCGA	0.647000													41	142					0	0	0.013114	0	0
ITGAX	3687	broad.mit.edu	37	16	31374258	31374258	+	Silent	SNP	C	C	T	rs147426364		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:31374258C>T	ENST00000268296.4	+	13	1483	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	ITGAX_ENST00000562522.1_Silent_p.I454I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	454					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCTTCAGATCGGCTCCTACT	0.672000													64	156					0	0	0.014410	0	0
C7	730	broad.mit.edu	37	5	40955571	40955571	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40955571G>A	ENST00000313164.9	+	10	1535	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	392	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTTACCTAGAGCTGGACAATC	0.453000													35	78					0	0	0.003271	0	0
NCR3	259197	broad.mit.edu	37	6	31557699	31557699	+	Missense_Mutation	SNP	G	G	A	rs34469029		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31557699G>A	ENST00000376073.4	-	2	511	c.248C>T	c.(247-249)tCc>tTc	p.S83F	NCR3_ENST00000376071.4_Intron|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376072.3_Missense_Mutation_p.S83F|NCR3_ENST00000340027.5_Missense_Mutation_p.S83F	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	83	Ig-like.				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GAGGAAACGGGAAGAAGCAAG	0.617000													75	210					0	0	0.014410	0	0
TLR4	7099	broad.mit.edu	37	9	120475341	120475341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:120475341C>T	ENST00000355622.6	+	3	1036	c.935C>T	c.(934-936)tCa>tTa	p.S312L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S272L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	312					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AATGTTTCTTCATTTTCCCTG	0.328000													22	52					0	0	0.012319	0	0
MAX	4149	broad.mit.edu	37	14	65544615	65544615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:65544615G>A	ENST00000284165.6	-	4	459	c.311C>T	c.(310-312)tCg>tTg	p.S104L	MAX_ENST00000557746.1_Intron|MAX_ENST00000556979.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000358664.4_Intron|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.S95L|MAX_ENST00000358402.4_Intron|MAX_ENST00000555667.1_Intron|MAX_ENST00000557277.1_Intron|MAX_ENST00000555419.1_Intron	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	0					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GCTGCCCCACGAGCTCGGGTG	0.572000													30	79					0	0	0.006320	0	0
CASC1	55259	broad.mit.edu	37	12	25261710	25261710	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:25261710G>A	ENST00000395990.2	-	17	2060	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	CASC1_ENST00000545133.1_Silent_p.A582A|CASC1_ENST00000354189.5_Intron|CASC1_ENST00000320267.9_Silent_p.A641A|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Silent_p.A647A	NM_001204102.1	NP_001191031.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	641										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACATTAAAAGGGCCCAATTAG	0.358000													15	41					0	0	0.004007	0	0
TRIML2	205860	broad.mit.edu	37	4	189020328	189020328	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:189020328C>T	ENST00000512729.1	-	4	706	c.330_splice	c.e4-1	p.R111_splice	TRIML2_ENST00000536972.1_Splice_Site_p.R161_splice|TRIML2_ENST00000326754.3_Splice_Site_p.R111_splice	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	111							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ACGGCCCAGTCTCTGCAGAAG	0.453000													39	216					0	0	0.008740	0	0
PORCN	64840	broad.mit.edu	37	X	48372729	48372729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:48372729C>T	ENST00000367574.4	+	7	1080	c.575C>T	c.(574-576)aCc>aTc	p.T192I	PORCN_ENST00000326194.6_Missense_Mutation_p.T274I|PORCN_ENST00000361988.3_Missense_Mutation_p.T263I|PORCN_ENST00000355961.4_Missense_Mutation_p.T269I|PORCN_ENST00000355092.3_Missense_Mutation_p.T268I|PORCN_ENST00000359882.4_Missense_Mutation_p.T268I|PORCN_ENST00000537758.1_Missense_Mutation_p.T274I			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	274					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGGCTTTACCGAGGAGAAG	0.632000													21	45					0	0	0.008871	0	0
KCNH7	90134	broad.mit.edu	37	2	163374317	163374317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:163374317C>T	ENST00000332142.5	-	4	914	c.815G>A	c.(814-816)aGa>aAa	p.R272K	KCNH7_ENST00000328032.4_Missense_Mutation_p.R272K|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	272					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CGAAGATGCTCTCCGTATACT	0.458000													10	40					0	0	0.006214	0	0
OR13C8	138802	broad.mit.edu	37	9	107332092	107332092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107332092C>T	ENST00000335040.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTAGTAATTTCCATCTCTTAC	0.418000													39	112					0	0	0.006230	0	0
OR51E1	143503	broad.mit.edu	37	11	4673996	4673996	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4673996C>T	ENST00000396952.5	+	2	890	c.240C>T	c.(238-240)tcC>tcT	p.S80S	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACCTCATCCATGCCCAAAA	0.468000													24	62					0	0	0.005443	0	0
DNAH3	55567	broad.mit.edu	37	16	21048078	21048078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21048078C>T	ENST00000261383.3	-	35	5042	c.5043G>A	c.(5041-5043)atG>atA	p.M1681I	DNAH3_ENST00000415178.1_Missense_Mutation_p.M1681I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1681	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGGAGTTTCATCTTTTTGA	0.368000													34	56					0	0	0.005524	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013256	142013256	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142013256G>A	ENST00000390357.3	+	0	140																											TGACAAATAAGAAGTCTTTGA	0.458000													32	87					0	0	0.008361	0	0
ZNF142	7701	broad.mit.edu	37	2	219513622	219513622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:219513622G>A	ENST00000411696.2	-	5	1788	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	ZNF142_ENST00000449707.1_Missense_Mutation_p.H337Y			P52746	ZN142_HUMAN	zinc finger protein 142	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGACTCTTGTGGTGGGCCTCC	0.562000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	69					0	0	0.014323	0	0
ZNF224	7767	broad.mit.edu	37	19	44611467	44611467	+	Missense_Mutation	SNP	C	C	T	rs138098649	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:44611467C>T	ENST00000336976.6	+	6	1408	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	385					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AGATGGGCCTCGTGTCTTTTG	0.418000													52	57					0	0	0.014410	0	0
CASR	846	broad.mit.edu	37	3	122001074	122001074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122001074G>A	ENST00000498619.1	+	6	2191	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	CASR_ENST00000490131.1_Missense_Mutation_p.D575N|CASR_ENST00000296154.5_Missense_Mutation_p.D575N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	575					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGAGTATAGTGATGAGACAGG	0.602000													89	139					0	0	0.014410	0	0
HAL	3034	broad.mit.edu	37	12	96379924	96379924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:96379924G>A	ENST00000261208.3	-	13	1434	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	HAL_ENST00000541929.1_Nonsense_Mutation_p.R148*|HAL_ENST00000538703.1_Nonsense_Mutation_p.R356*	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	356					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CGGTGAGGTCGAAGAGCATGA	0.423000													23	48					0	0	0.003954	0	0
BTNL3	10917	broad.mit.edu	37	5	180432727	180432727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:180432727C>T	ENST00000342868.6	+	8	1440	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	419	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGGACCATCTCCTTCTTCAAT	0.478000													25	48					0	0	0.005443	0	0
CHST1	8534	broad.mit.edu	37	11	45671922	45671922	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:45671922C>T	ENST00000308064.2	-	4	1222	c.552G>A	c.(550-552)aaG>aaA	p.K184K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	184					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)		GTAGCCCGCACTTGCGCACAC	0.731000													17	78					0	0	0.004990	0	0
CHD8	57680	broad.mit.edu	37	14	21894393	21894393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21894393G>A	ENST00000399982.2	-	4	1674	c.1610C>T	c.(1609-1611)aCt>aTt	p.T537I	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.T258I|CHD8_ENST00000557364.1_Missense_Mutation_p.T537I	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	537					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)		CACTACAGGAGTGATGGTGCT	0.358000													15	22					0	0	0.004007	0	0
TRIM11	81559	broad.mit.edu	37	1	228582482	228582482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:228582482G>A	ENST00000493030.2	-	5	4665	c.956C>T	c.(955-957)cCc>cTc	p.P319L	TRIM11_ENST00000284551.6_Missense_Mutation_p.P444L|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	444	B30.2/SPRY.			P -> S (in Ref. 2; BAG53535).	response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTGGACAGGGGTGAGAAGAG	0.637000													33	65					0	0	0.003271	0	0
SLC25A12	8604	broad.mit.edu	37	2	172700924	172700924	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:172700924G>T	ENST00000422440.2	-	5	457	c.420C>A	c.(418-420)aaC>aaA	p.N140K	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Missense_Mutation_p.N33K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	140	EF-hand 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GCTTCTTCCGGTTATGCCCAA	0.353000													33	107					3.86903e-22	3.96151e-22	0.013726	1	0
LHCGR	3973	broad.mit.edu	37	2	48936103	48936103	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:48936103T>G	ENST00000294954.7	-	8	685	c.664A>C	c.(664-666)Aca>Cca	p.T222P	LHCGR_ENST00000403273.1_Missense_Mutation_p.T222P|LHCGR_ENST00000401907.1_Missense_Mutation_p.T222P|LHCGR_ENST00000405626.1_Missense_Mutation_p.T222P|LHCGR_ENST00000344775.3_Missense_Mutation_p.T222P|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	222					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCGGCCCTGTGGCCCCACGG	0.547000													41	125					0	0	0.014410	0	0
C19orf45	374877	broad.mit.edu	37	19	7573215	7573215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7573215G>A	ENST00000361664.2	+	9	1558	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	473										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCCTCAGGAGGGCTTCGTGCC	0.597000													14	54					0	0	0.003163	0	0
PTPN21	11099	broad.mit.edu	37	14	88945806	88945806	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:88945806G>A	ENST00000556564.1	-	13	2253	c.1969C>T	c.(1969-1971)Cta>Tta	p.L657L	PTPN21_ENST00000328736.3_Silent_p.L657L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	657						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GACGCGGATAGGGTGCGCTCC	0.721000													14	36					0	0	0.001855	0	0
ZNF695	57116	broad.mit.edu	37	1	247150781	247150781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:247150781G>A	ENST00000339986.7	-	4	1183	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	346					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTCCAGTATGAATTCTTCTA	0.383000													21	41					0	0	0.008871	0	0
TPH1	7166	broad.mit.edu	37	11	18054885	18054885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:18054885G>A	ENST00000250018.2	-	3	900	c.338C>T	c.(337-339)tCt>tTt	p.S113F	TPH1_ENST00000341556.2_Missense_Mutation_p.S113F	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	113					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GTCCAGGTCAGAAATCTTCTT	0.328000													44	258					0	0	0.014410	0	0
PRRG1	5638	broad.mit.edu	37	X	37312440	37312440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:37312440G>A	ENST00000542554.1	+	5	495	c.223G>A	c.(223-225)Gga>Aga	p.G75R	PRRG1_ENST00000378628.4_Missense_Mutation_p.G75R|PRRG1_ENST00000543642.1_Missense_Mutation_p.G75R|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.G75R	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	75						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGTAACCGAGGAAGTGACTG	0.373000													16	18					0	0	0.003163	0	0
PCNT	5116	broad.mit.edu	37	21	47860833	47860833	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47860833G>A	ENST00000359568.5	+	43	9566	c.9459G>A	c.(9457-9459)aaG>aaA	p.K3153K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3153	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTATCAAAAGAAGTATCTTT	0.368000													42	143					0	0	0.007835	0	0
TMTC2	160335	broad.mit.edu	37	12	83251033	83251033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:83251033C>T	ENST00000549919.1	+	3	2115	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	TMTC2_ENST00000321196.3_Missense_Mutation_p.L110F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L110F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	110						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGATCCTCCTTGGTGATGG	0.532000													38	128					0	0	0.006230	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476979	20476979	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20476979G>A	ENST00000573854.1	+	3	432	c.318G>A	c.(316-318)ggG>ggA	p.G106G	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Silent_p.G27G|ACSM2A_ENST00000396104.2_Silent_p.G106G|ACSM2A_ENST00000219054.6_Silent_p.G106G|ACSM2A_ENST00000575690.1_Silent_p.G106G|ACSM2A_ENST00000424070.1_Silent_p.G106G	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGCAGCGTGGGGATCGTGTGG	0.572000													8	78					0	0	0.004482	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809344	18809344	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18809344C>T	ENST00000400664.1	+	1	1921	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	623						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACGTTCGCCCTGGCGC	0.667000													13	38					0	0	0.002450	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270696	1270696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1270696C>T	ENST00000348261.5	+	35	7012	c.6764C>T	c.(6763-6765)tCc>tTc	p.S2255F	CACNA1H_ENST00000565831.1_Missense_Mutation_p.S2249F|CACNA1H_ENST00000358590.4_Missense_Mutation_p.S2249F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2255					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCCAGGCCTCCTGCCGGGCT	0.697000													15	25					0	0	0.002450	0	0
KSR2	283455	broad.mit.edu	37	12	117968819	117968819	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:117968819C>T	ENST00000425217.1	-	12	1697		c.e12-1		KSR2_ENST00000339824.5_Splice_Site|KSR2_ENST00000545002.1_Splice_Site|KSR2_ENST00000302438.5_Splice_Site	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2						intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCACCACATCTGAAAACCAG	0.547000													70	168					0	0	0.014410	0	0
AADAC	13	broad.mit.edu	37	3	151531958	151531958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151531958G>A	ENST00000232892.6	+	1	134	c.8G>A	c.(7-9)aGa>aAa	p.R3K	RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.R3K|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	3				R -> M (in Ref. 6; AA sequence).	positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCATGGGAAGAAAATCGCTG	0.423000													35	173					0	0	0.005524	0	0
PTPRC	5788	broad.mit.edu	37	1	198685852	198685852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:198685852G>A	ENST00000367376.2	+	13	1498	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	PTPRC_ENST00000348564.6_Missense_Mutation_p.D284N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D395N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D282N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D445N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	443	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GATCAAATATGATTTGCAAAA	0.318000													37	93					0	0	0.004878	0	0
TWF1	5756	broad.mit.edu	37	12	44193204	44193204	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:44193204A>T	ENST00000395510.2	-	5	609	c.480T>A	c.(478-480)aaT>aaA	p.N160K	TWF1_ENST00000325127.4_Missense_Mutation_p.N194K|TWF1_ENST00000552521.1_Missense_Mutation_p.N62K|TWF1_ENST00000548315.1_Missense_Mutation_p.N160K	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	160						actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AACTTACCTCATTGATTTTAA	0.333000													6	27					0	0	0.003080	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136054	40136054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:40136054G>A	ENST00000278198.2	-	2	3752	c.1789C>T	c.(1789-1791)Cac>Tac	p.H597Y	LRRC4C_ENST00000528697.1_Missense_Mutation_p.H597Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H597Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H597Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	597					regulation of axonogenesis	integral to membrane	protein binding	p.H597N(1)		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)				GAGTTATAGTGATTTAGGTGC	0.408000													13	100					0	0	0.001855	0	0
NPNT	255743	broad.mit.edu	37	4	106861297	106861297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:106861297G>A	ENST00000379987.2	+	6	787	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	NPNT_ENST00000305572.8_Missense_Mutation_p.G191R|NPNT_ENST00000453617.2_Missense_Mutation_p.G208R|NPNT_ENST00000427316.2_Missense_Mutation_p.G221R|NPNT_ENST00000514622.1_Missense_Mutation_p.G191R|NPNT_ENST00000506666.1_Missense_Mutation_p.G221R	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	191	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CAACACTTTTGGGAGCTACAT	0.403000													21	64					0	0	0.010504	0	0
NES	10763	broad.mit.edu	37	1	156640516	156640516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:156640516G>A	ENST00000368223.3	-	4	3596	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1155	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCAGCTCGGAGAACTCTGT	0.632000													64	146					0	0	0.014410	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001352	52001352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:52001352C>T	ENST00000291707.3	-	5	1380	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G324E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	442	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTGAATTCCCCTTCATCCTT	0.617000													21	43					0	0	0.008871	0	0
ACSM1	116285	broad.mit.edu	37	16	20696539	20696539	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20696539C>T	ENST00000219151.4	-	0	446				ACSM1_ENST00000520010.1_Missense_Mutation_p.V127M|ACSM1_ENST00000307493.4_Missense_Mutation_p.V127M			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCACAGCCACCAGCCACCAC	0.577000													7	75					0	0	0.001984	0	0
SI	6476	broad.mit.edu	37	3	164777010	164777010	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164777010G>A	ENST00000264382.3	-	11	1286	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	408	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAATTGAGGGAGTCCGTTAA	0.338000										HNSCC(35;0.089)			21	24					0	0	0.014323	0	0
SYNE2	23224	broad.mit.edu	37	14	64476784	64476784	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:64476784C>T	ENST00000358025.3	+	32	4908	c.4678C>T	c.(4678-4680)Ctg>Ttg	p.L1560L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L1560L|SYNE2_ENST00000344113.4_Silent_p.L1560L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1560					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTCATCTCCCTGCAGGCTTC	0.418000													12	32					0	0	0.013537	0	0
C8B	732	broad.mit.edu	37	1	57425832	57425832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57425832G>A	ENST00000371237.4	-	2	176	c.110C>T	c.(109-111)tCc>tTc	p.S37F	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_5'UTR	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	37					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACCCAAAGGAATGTGGCCT	0.418000													22	89					0	0	0.003330	0	0
LRRC66	339977	broad.mit.edu	37	4	52860987	52860987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:52860987G>A	ENST00000343457.3	-	4	2207	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	734						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTCCTGCAGGGACTCCTCATC	0.507000													22	100					0	0	0.012319	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114098849	114098849	+	Silent	SNP	G	G	A	rs138609269		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:114098849G>A	ENST00000356501.4	-	2	199	c.24C>T	c.(22-24)atC>atT	p.I8I	ADPRHL1_ENST00000375418.3_Silent_p.I90I	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	90					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCTTCTCAACGATTTCCACAT	0.547000													207	124					0	0	0.014410	0	0
C2CD3	26005	broad.mit.edu	37	11	73843971	73843971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:73843971G>A	ENST00000334126.7	-	7	1361	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y	C2CD3_ENST00000313663.7_Missense_Mutation_p.H379Y|C2CD3_ENST00000539061.1_Missense_Mutation_p.H379Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	379						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGGAGGTGATCTTCAATG	0.408000													27	49					0	0	0.003954	0	0
RASSF6	166824	broad.mit.edu	37	4	74453570	74453570	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:74453570C>T	ENST00000307439.5	-	5	663	c.369G>A	c.(367-369)agG>agA	p.R123R	RASSF6_ENST00000395777.2_Silent_p.R123R|RASSF6_ENST00000342081.3_Silent_p.R155R|RASSF6_ENST00000335049.5_Silent_p.R111R	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	155					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCTGGGAATTCCTTTTTTCAG	0.368000													13	29					0	0	0.003163	0	0
CHMP7	91782	broad.mit.edu	37	8	23106782	23106782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:23106782C>T	ENST00000397677.1	+	3	1007	c.359C>T	c.(358-360)tCc>tTc	p.S120F	CHMP7_ENST00000313219.7_Missense_Mutation_p.S120F	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	120					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCTGGATCTCCTGGGGGGTT	0.542000													50	107					0	0	0.014410	0	0
ITGA7	3679	broad.mit.edu	37	12	56090706	56090706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:56090706C>T	ENST00000257880.7	-	13	2065	c.1846G>A	c.(1846-1848)Gga>Aga	p.G616R	ITGA7_ENST00000394230.2_Missense_Mutation_p.G576R|ITGA7_ENST00000347027.6_Missense_Mutation_p.G566R|ITGA7_ENST00000553804.1_Missense_Mutation_p.G576R|ITGA7_ENST00000394229.2_Missense_Mutation_p.G572R|ITGA7_ENST00000555728.1_Missense_Mutation_p.G616R|ITGA7_ENST00000452168.2_Missense_Mutation_p.G479R|ITGA7_ENST00000257879.6_Missense_Mutation_p.G572R			Q13683	ITA7_HUMAN	integrin, alpha 7	616					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGCGTCTCCACAGACTCGG	0.572000													21	60					0	0	0.003330	0	0
DDX28	55794	broad.mit.edu	37	16	68056770	68056770	+	Silent	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:68056770C>G	ENST00000332395.5	-	1	1000	c.336G>C	c.(334-336)gcG>gcC	p.A112A		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	112						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CCTCCTGTTGCGCGCGCTCGA	0.692000													4	19					0	0	0.009096	0	0
COX8C	341947	broad.mit.edu	37	14	93814420	93814420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:93814420C>T	ENST00000342144.2	+	2	251	c.173C>T	c.(172-174)cCa>cTa	p.P58L	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	58						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TTCTTAACACCAGCTGCATAT	0.443000													36	120					0	0	0.004878	0	0
TRIM37	4591	broad.mit.edu	37	17	57134297	57134297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57134297G>A	ENST00000376149.3	-	13	1581	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	TRIM37_ENST00000393066.3_Missense_Mutation_p.R380C|TRIM37_ENST00000262294.7_Missense_Mutation_p.R380C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R346C			O94972	TRI37_HUMAN	tripartite motif containing 37	380						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAGTCCAAACGGAAAAATCTA	0.358000									Mulibrey Nanism				23	117					0	0	0.003330	0	0
ABCA2	20	broad.mit.edu	37	9	139912449	139912449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139912449G>A	ENST00000265662.5	-	15	2219	c.2072C>T	c.(2071-2073)cCc>cTc	p.P691L	ABCA2_ENST00000371605.3_Missense_Mutation_p.P690L|ABCA2_ENST00000341511.6_Missense_Mutation_p.P691L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	690					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGGGGTAGGGGAACATCTG	0.672000													9	48					0	0	0.010729	0	0
OR12D3	81797	broad.mit.edu	37	6	29342884	29342884	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29342884G>A	ENST00000396806.3	-	1	184	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	61					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						AGGTTTCCCAGAAAAAAATAC	0.398000													29	42					0	0	0.006320	0	0
LPA	4018	broad.mit.edu	37	6	161006102	161006102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:161006102C>T	ENST00000447678.1	-	27	4385	c.4265G>A	c.(4264-4266)aGg>aAg	p.R1422K	LPA_ENST00000316300.5_Missense_Mutation_p.R1422K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3930	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAATGGGATCCTCCGATGCCA	0.443000													49	100					0	0	0.014410	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509479	110509479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110509479C>T	ENST00000378402.5	+	65	10681	c.10577C>T	c.(10576-10578)tCc>tTc	p.S3526F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3526					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACAAAATTTCCAGTAAAAAT	0.358000										HNSCC(38;0.096)			17	41					0	0	0.004990	0	0
TTF2	8458	broad.mit.edu	37	1	117618454	117618454	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:117618454C>T	ENST00000369466.3	+	5	1292	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	416					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGCGTGTCTACCTTACAACAC	0.463000													109	85					0	0	0.014410	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40647107	40647107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:40647107C>T	ENST00000343619.4	+	13	1493	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S457F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S414F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S464F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S457F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S103F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S414F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	457					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGTGTGTTCTCCATGTACACT	0.413000													95	263					0	0	0.014410	0	0
PXK	54899	broad.mit.edu	37	3	58395827	58395827	+	Missense_Mutation	SNP	G	G	A	rs141886525		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58395827G>A	ENST00000463280.1	+	14	1398	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	PXK_ENST00000383716.3_Missense_Mutation_p.R436Q|PXK_ENST00000383715.4_Missense_Mutation_p.R452Q|PXK_ENST00000536660.1_Missense_Mutation_p.R332Q|PXK_ENST00000356151.2_Missense_Mutation_p.R469Q|PXK_ENST00000484288.1_Missense_Mutation_p.R469Q|PXK_ENST00000479241.1_Missense_Mutation_p.R452Q|PXK_ENST00000302779.5_Missense_Mutation_p.R452Q			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	469	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAGTCAAAACGATCTGCTCTT	0.403000													24	71					0	0	0.004656	0	0
SYNM	23336	broad.mit.edu	37	15	99672295	99672295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:99672295G>A	ENST00000336292.6	+	5	3847	c.3727G>A	c.(3727-3729)Ggg>Agg	p.G1243R	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1244	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTCTGCTGCAGGGAAGGTTGG	0.478000													46	112					0	0	0.014410	0	0
THAP4	51078	broad.mit.edu	37	2	242542426	242542426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242542426G>A	ENST00000407315.1	-	4	1900	c.1469C>T	c.(1468-1470)cCc>cTc	p.P490L	THAP4_ENST00000402545.1_Missense_Mutation_p.P78L|THAP4_ENST00000402136.1_Missense_Mutation_p.P78L	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	490							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GTTGGTGTCGGGCTTGAGGCG	0.627000													46	145					0	0	0.014410	0	0
ELN	2006	broad.mit.edu	37	7	73459572	73459572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:73459572G>A	ENST00000252034.7	+	10	889	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	ELN_ENST00000380575.4_Missense_Mutation_p.G154R|ELN_ENST00000458204.1_Missense_Mutation_p.G154R|ELN_ENST00000380584.4_Missense_Mutation_p.G164R|ELN_ENST00000358929.4_Missense_Mutation_p.G164R|ELN_ENST00000445912.1_Missense_Mutation_p.G164R|ELN_ENST00000320399.6_Missense_Mutation_p.G164R|ELN_ENST00000429192.1_Missense_Mutation_p.G169R|ELN_ENST00000380576.5_Missense_Mutation_p.G164R|ELN_ENST00000380562.4_Missense_Mutation_p.G164R|ELN_ENST00000414324.1_Missense_Mutation_p.G159R|ELN_ENST00000357036.5_Missense_Mutation_p.G169R|ELN_ENST00000320492.7_Missense_Mutation_p.G152R|ELN_ENST00000380553.4_Intron	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	164					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCCCGGTGTGGGGGTGCTCCC	0.652000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						18	111					0	0	0.010504	0	0
DCAF17	80067	broad.mit.edu	37	2	172333454	172333454	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:172333454C>T	ENST00000375255.3	+	11	1503	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	392						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACAGGGAGAACCATAAAGTAA	0.313000													13	37					0	0	0.003163	0	0
DMD	1756	broad.mit.edu	37	X	31152236	31152236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:31152236G>A	ENST00000357033.4	-	77	11203	c.10997C>T	c.(10996-10998)tCc>tTc	p.S3666F	DMD_ENST00000378707.3_Missense_Mutation_p.S1206F|DMD_ENST00000378677.2_Missense_Mutation_p.S3662F|DMD_ENST00000541735.1_Missense_Mutation_p.S1096F|DMD_ENST00000343523.2_Missense_Mutation_p.S1096F|DMD_ENST00000474231.1_Missense_Mutation_p.S1206F|DMD_ENST00000378680.2_Missense_Mutation_p.S488F|DMD_ENST00000378723.3_Missense_Mutation_p.S598F|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000359836.1_Missense_Mutation_p.S1193F|DMD_ENST00000378702.4_Missense_Mutation_p.S598F|DMD_ENST00000361471.4_Missense_Mutation_p.S585F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3666					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTAGGGAAGGAGTTGTTGAG	0.468000													17	25					0	0	0.007413	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137648	40137648	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:40137648T>A	ENST00000278198.2	-	2	2158	c.195A>T	c.(193-195)aaA>aaT	p.K65N	LRRC4C_ENST00000528697.1_Missense_Mutation_p.K65N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K65N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K65N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	65	LRRNT.				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)				CACGCAGGTTTTTCCGAACAC	0.527000													20	25					0	0	0.010504	0	0
IQSEC2	23096	broad.mit.edu	37	X	53283776	53283776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:53283776G>A	ENST00000396435.3	-	4	1537	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	IQSEC2_ENST00000375365.2_Missense_Mutation_p.S241F|IQSEC2_ENST00000375368.5_Missense_Mutation_p.S436F	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	436					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGTGGTGACGGAGCTTCCACC	0.577000													28	56					0	0	0.009535	0	0
CERKL	375298	broad.mit.edu	37	2	182468673	182468673	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:182468673G>A	ENST00000410087.3	-	2	472	c.372C>T	c.(370-372)atC>atT	p.I124I	CERKL_ENST00000374970.2_Silent_p.I124I|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Silent_p.I124I|CERKL_ENST00000409440.3_Silent_p.I124I|CERKL_ENST00000339098.5_Silent_p.I124I	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	124					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTTCAAGCAGATGAAGAGTG	0.323000													10	39					0	0	0.006214	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049685	90049685	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:90049685C>T	ENST00000330947.2	+	5	1836	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L	LRRC8B_ENST00000358200.4_Silent_p.L492L|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.L492L	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	492						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAAAAATCCTCCGCCTGAAAT	0.458000													41	62					0	0	0.009718	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883550	58883550	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:58883550G>A	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						gtctgccagtggagtcagcac	0.567000													26	46					0	0	0.006320	0	0
LAX1	54900	broad.mit.edu	37	1	203743453	203743453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203743453G>A	ENST00000442561.2	+	5	1231	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.E265K	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	281					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCATCCAGGAAAGGCAGCT	0.502000													34	71					0	0	0.003271	0	0
OGDH	4967	broad.mit.edu	37	7	44736150	44736150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:44736150C>T	ENST00000222673.5	+	14	1936	c.1894C>T	c.(1894-1896)Cat>Tat	p.H632Y	OGDH_ENST00000543843.1_Missense_Mutation_p.H583Y|OGDH_ENST00000439616.2_Missense_Mutation_p.H482Y|OGDH_ENST00000444676.1_Missense_Mutation_p.H647Y|OGDH_ENST00000449767.1_Missense_Mutation_p.H628Y|OGDH_ENST00000447398.1_Missense_Mutation_p.H643Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	632					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTTTACTATTCATGGAGGTAA	0.567000													12	93					0	0	0.002450	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828946	125828946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:125828946C>T	ENST00000393434.2	-	20	2537	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E730K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E629K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E740K|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	730	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCGCACCTCTTCTACCTGC	0.577000													80	100					0	0	0.014410	0	0
LY75	4065	broad.mit.edu	37	2	160746742	160746742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:160746742C>T	ENST00000263636.4	-	4	811	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	LY75_ENST00000553424.1_Missense_Mutation_p.E262K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E262K|LY75_ENST00000554112.1_Missense_Mutation_p.E262K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E262K	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TAAGTTAATTCAGCAGCACTG	0.353000													18	54					0	0	0.008871	0	0
HCN1	348980	broad.mit.edu	37	5	45645518	45645518	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:45645518G>A	ENST00000303230.4	-	2	675	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	206						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTCCAGGATGATTTCAGAAC	0.378000													17	43					0	0	0.004007	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671068	112671068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:112671068G>A	ENST00000441065.2	+	3	470	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	53							zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTTGTGTCGAGACGTGGTG	0.463000													22	28					0	0	0.010504	0	0
OR10T2	128360	broad.mit.edu	37	1	158369079	158369079	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158369079T>C	ENST00000334438.1	-	1	177	c.178A>G	c.(178-180)Atg>Gtg	p.M60V		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCCATACATGGGAGTGTGG	0.473000													5	43					0	0	0.001168	0	0
RASGRF2	5924	broad.mit.edu	37	5	80369074	80369074	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:80369074G>A	ENST00000265080.4	+	5	757	c.690G>A	c.(688-690)caG>caA	p.Q230Q	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	230	IQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCATCGTGCAGGATTACATTT	0.443000													29	60					0	0	0.006320	0	0
CCDC11	220136	broad.mit.edu	37	18	47778003	47778003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:47778003G>A	ENST00000398545.4	-	4	742	c.625C>T	c.(625-627)Cga>Tga	p.R209*		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	209								p.R209R(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTGGCTAATCGGTCTTCCTCC	0.527000													119	151					0	0	0.014410	0	0
OR2M3	127062	broad.mit.edu	37	1	248366886	248366886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248366886G>A	ENST00000456743.1	+	1	555	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			TGGGTCTCGGGAAATAGCCCA	0.418000													61	161					0	0	0.014410	0	0
OR12D3	81797	broad.mit.edu	37	6	29342600	29342600	+	Silent	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29342600C>A	ENST00000396806.3	-	1	468	c.465G>T	c.(463-465)ctG>ctT	p.L155L	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	155					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						CAGAATGCATCAGAGCGTAAA	0.488000													14	49					2.31682e-05	2.35182e-05	0.003163	1	0
NFX1	4799	broad.mit.edu	37	9	33351567	33351567	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:33351567A>C	ENST00000379540.3	+	16	2496	c.2434A>C	c.(2434-2436)Aac>Cac	p.N812H	NFX1_ENST00000379521.4_Missense_Mutation_p.N812H	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	812					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTTTCGGAGCAACATCCCCTG	0.468000													12	51					0	0	0.013537	0	0
OR52L1	338751	broad.mit.edu	37	11	6008029	6008029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6008029C>T	ENST00000332249.4	-	1	186	c.132G>A	c.(130-132)tgG>tgA	p.W44*		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTGCAATCCAGTGCTGGC	0.488000													18	36					0	0	0.004990	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230393	140230393	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140230393C>T	ENST00000378122.3	+	1	3037	c.2313C>T	c.(2311-2313)gcC>gcT	p.A771A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A771A|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCATGGCCTTCAGCCCGG	0.577000													66	44					0	0	0.014410	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99995226	99995226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:99995226C>T	ENST00000314594.5	+	9	2422	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	R3HCC1L_ENST00000298999.3_Missense_Mutation_p.P693S|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.P99S|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P693S	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		GAAGATTCGTCCCTTGTCACA	0.443000													15	18					0	0	0.007413	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017847	17017847	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17017847G>A	ENST00000443236.1	-	30	4114	c.4083C>T	c.(4081-4083)gcC>gcT	p.A1361A		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1314						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGGTAGTCAGGGCACAGCTAT	0.657000													21	52					0	0	0.002780	0	0
TRHDE	29953	broad.mit.edu	37	12	73015504	73015504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:73015504C>T	ENST00000261180.4	+	15	2609	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	838					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACACTTATTTCAGATTGGATT	0.393000													4	27					0	0	0.000602	0	0
SGSM1	129049	broad.mit.edu	37	22	25294347	25294347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25294347G>A	ENST00000400358.4	+	19	2488	c.2431G>A	c.(2431-2433)Gat>Aat	p.D811N	SGSM1_ENST00000400359.4_Missense_Mutation_p.D866N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	866	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGAAAAGGACGATGTTGTGAT	0.587000													68	136					0	0	0.014410	0	0
TNP2	7142	broad.mit.edu	37	16	11363116	11363116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:11363116C>T	ENST00000312693.3	-	1	73	c.4G>A	c.(4-6)Gac>Aac	p.D2N	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	2					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GTCTGGGTGTCCATAGGAGGC	0.592000													22	93					0	0	0.012319	0	0
CACNA1I	8911	broad.mit.edu	37	22	40036908	40036908	+	Silent	SNP	G	G	A	rs149938037	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:40036908G>A	ENST00000336649.4	+	8	777	c.777G>A	c.(775-777)ccG>ccA	p.P259P	CACNA1I_ENST00000404898.1_Silent_p.P259P|CACNA1I_ENST00000402142.3_Silent_p.P259P|CACNA1I_ENST00000400164.3_Silent_p.P259P|CACNA1I_ENST00000401624.1_Silent_p.P259P|CACNA1I_ENST00000407673.1_Silent_p.P259P			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	259					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACTACCAGCCGGAGGAGGATG	0.602000													12	45					0	0	0.002450	0	0
RYR3	6263	broad.mit.edu	37	15	33988477	33988477	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:33988477C>T	ENST00000389232.4	+	39	5989	c.5919C>T	c.(5917-5919)atC>atT	p.I1973I	RYR3_ENST00000415757.3_Silent_p.I1973I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1973	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGACCAGATCCAGGATTCAG	0.562000													21	74					0	0	0.008871	0	0
DNAH3	55567	broad.mit.edu	37	16	21049164	21049164	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21049164C>T	ENST00000261383.3	-	34	4868	c.4869G>A	c.(4867-4869)gaG>gaA	p.E1623E	DNAH3_ENST00000415178.1_Silent_p.E1623E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1623					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACTTTCATTCTCCTCTGGAT	0.512000													8	45					0	0	0.003080	0	0
TRIM39	56658	broad.mit.edu	37	6	30308352	30308352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30308352C>T	ENST00000376659.5	+	7	1472	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.P204S|TRIM39_ENST00000376656.4_Missense_Mutation_p.P322S|TRIM39_ENST00000540416.1_Missense_Mutation_p.P292S|TRIM39_ENST00000396548.1_Missense_Mutation_p.P292S|TRIM39_ENST00000396551.3_Missense_Mutation_p.P292S|TRIM39_ENST00000396547.1_Missense_Mutation_p.P322S	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						CAGCAATTTTCCCCGACAGTA	0.413000													46	131					0	0	0.014410	0	0
MORC1	27136	broad.mit.edu	37	3	108751586	108751586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:108751586G>A	ENST00000232603.5	-	16	1628	c.1546C>T	c.(1546-1548)Ccc>Tcc	p.P516S	MORC1_ENST00000483760.1_Missense_Mutation_p.P516S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	516					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAGCGGTTGGGATTATTAGCA	0.289000													26	37					0	0	0.004656	0	0
CPN1	1369	broad.mit.edu	37	10	101829527	101829527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:101829527C>T	ENST00000370418.3	-	3	771	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	174	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGTACTTCTCGTTATAGTAG	0.483000													74	75					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13721244	13721244	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13721244G>A	ENST00000265104.4	-	71	12248	c.12144C>T	c.(12142-12144)ctC>ctT	p.L4048L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4048	AAA 6 (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)					CCATAGACAGGAGACAGATGA	0.498000									Kartagener syndrome				30	83					0	0	0.012213	0	0
TRIM67	440730	broad.mit.edu	37	1	231349710	231349710	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:231349710A>G	ENST00000444294.3	+	9	3125	c.2267A>G	c.(2266-2268)aAc>aGc	p.N756S	TRIM67_ENST00000366652.2_Intron|TRIM67_ENST00000449018.3_Missense_Mutation_p.N696S|TRIM67_ENST00000366653.5_Missense_Mutation_p.N758S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	758	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTCAGCCTCAACCGCAACGTG	0.627000													13	54					0	0	0.002450	0	0
TLR5	7100	broad.mit.edu	37	1	223284112	223284112	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:223284112G>A	ENST00000540964.1	-	4	2723	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	TLR5_ENST00000342210.6_Silent_p.I754I			O60602	TLR5_HUMAN	toll-like receptor 5	754	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAAGACAAACGATCTTTCTAC	0.468000													44	62					0	0	0.013114	0	0
RFPL2	10739	broad.mit.edu	37	22	32587002	32587002	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:32587002G>A	ENST00000400236.3	-	5	1829	c.624C>T	c.(622-624)ttC>ttT	p.F208F	RFPL2_ENST00000248983.4_Silent_p.F208F|RFPL2_ENST00000400237.1_Silent_p.F298F|RFPL2_ENST00000248980.4_Silent_p.F237F|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	298	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGCGGTCTACGAAGAGGAAAG	0.512000													23	49					0	0	0.006320	0	0
AGBL1	123624	broad.mit.edu	37	15	87066088	87066088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:87066088C>T	ENST00000441037.2	+	18	2560	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F	AGBL1_ENST00000389298.3_Missense_Mutation_p.S553F|AGBL1_ENST00000421325.2_Missense_Mutation_p.S822F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	822					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAATGGCTTTCTCCCAGTGCT	0.468000													44	99					0	0	0.009718	0	0
CNPY2	10330	broad.mit.edu	37	12	56708936	56708936	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:56708936C>T	ENST00000273308.4	-	2	606	c.66G>A	c.(64-66)agG>agA	p.R22R	RP11-977G19.10_ENST00000549318.1_Silent_p.R22R|CNPY2_ENST00000551720.1_5'UTR	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	22						endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						GATCCTGGCTCCTCCGAGCCC	0.597000													44	111					0	0	0.014410	0	0
TRPC7	57113	broad.mit.edu	37	5	135692631	135692631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:135692631C>T	ENST00000513104.1	-	2	727	c.445G>A	c.(445-447)Gac>Aac	p.D149N	TRPC7_ENST00000426057.2_Missense_Mutation_p.D149N|TRPC7_ENST00000355180.3_Missense_Mutation_p.D149N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	149					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGAAGTCGTCGTCGCGCAGC	0.647000													56	63					0	0	0.014410	0	0
PGM1	5236	broad.mit.edu	37	1	64125271	64125271	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:64125271C>T	ENST00000371083.4	+	11	2036	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P	PGM1_ENST00000540265.1_Silent_p.P341P|PGM1_ENST00000371084.3_Silent_p.P538P	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	538					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGGCCCCCCTTATTTCCA	0.517000													30	71					0	0	0.012213	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779105	31779105	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31779105A>T	ENST00000375654.4	-	2	834	c.645T>A	c.(643-645)gaT>gaA	p.D215E	HSPA1L_ENST00000417199.3_Missense_Mutation_p.D215E	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	215					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAATCCCATCATCTATGGTCA	0.483000													240	497					0	0	0.014410	0	0
GDI2	2665	broad.mit.edu	37	10	5836859	5836859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:5836859G>A	ENST00000380191.4	-	4	667	c.377C>T	c.(376-378)gCc>gTc	p.A126V	GDI2_ENST00000380181.3_Intron|GDI2_ENST00000380132.4_Missense_Mutation_p.A130V	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	126					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AGATGCCAGGGCTTCTGCTTC	0.373000													44	61					0	0	0.014410	0	0
MXRA8	54587	broad.mit.edu	37	1	1289773	1289773	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1289773G>A	ENST00000309212.6	-	6	1096	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	MXRA8_ENST00000445648.2_Silent_p.L356L|MXRA8_ENST00000342753.4_Silent_p.L255L	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	356						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACAGTGACCAGTAGCAGGATG	0.682000													17	41					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9005204	9005204	+	Silent	SNP	G	G	A	rs75792671	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9005204G>A	ENST00000397910.4	-	47	40076	c.39873C>T	c.(39871-39873)ccC>ccT	p.P13291P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13293					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						TGCTGGTGGTGGGCACAGAGC	0.517000													10	51					0	0	0.010729	0	0
LRP1B	53353	broad.mit.edu	37	2	141294180	141294180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141294180C>T	ENST00000389484.3	-	46	8583	c.7612G>A	c.(7612-7614)Gat>Aat	p.D2538N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2538	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGATTTATCTTTACAGTGA	0.393000										TSP Lung(27;0.18)			21	58					0	0	0.008871	0	0
FLNC	2318	broad.mit.edu	37	7	128491636	128491636	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:128491636C>T	ENST00000325888.8	+	35	6057	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FLNC_ENST00000346177.6_Silent_p.F1899F|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1932					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGTGCGCTTCGATGACAAGC	0.577000													43	114					0	0	0.014410	0	0
MPO	4353	broad.mit.edu	37	17	56350865	56350865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:56350865G>A	ENST00000340482.3	-	8	1803	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	MPO_ENST00000225275.3_Missense_Mutation_p.R511C			P05164	PERM_HUMAN	myeloperoxidase	511					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TTGTCCAGGCGGAACATGAAG	0.587000													90	240					0	0	0.014410	0	0
VCAN	1462	broad.mit.edu	37	5	82837715	82837715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:82837715G>A	ENST00000265077.3	+	8	9458	c.8893G>A	c.(8893-8895)Gaa>Aaa	p.E2965K	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E1978K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2965	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACTGCCGATGAAATTGAATT	0.468000													30	40					0	0	0.008361	0	0
TFF1	7031	broad.mit.edu	37	21	43783485	43783485	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:43783485C>T	ENST00000291527.2	-	2	215	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	39	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						AACCACAATTCTGTCTTTCAC	0.507000													24	68					0	0	0.003954	0	0
CST1	1469	broad.mit.edu	37	20	23731432	23731432	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:23731432C>T	ENST00000304749.2	-	1	142	c.72G>A	c.(70-72)aaG>aaA	p.K24K	CST1_ENST00000398402.1_Silent_p.K24K	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	24						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TATCCTCCTCCTTGGGGCTCC	0.577000													21	65					0	0	0.012319	0	0
RGS3	5998	broad.mit.edu	37	9	116346364	116346364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:116346364G>A	ENST00000374140.2	+	21	2881	c.2672G>A	c.(2671-2673)gGg>gAg	p.G891E	RGS3_ENST00000462143.1_Missense_Mutation_p.G212E|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.G212E|RGS3_ENST00000350696.5_Missense_Mutation_p.G891E|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.G610E	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	891					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						gtggaggagggggaggaaggg	0.647000													20	54					0	0	0.008871	0	0
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152749094C>G	ENST00000334371.2	+	1	247	c.247C>G	c.(247-249)Cgt>Ggt	p.R83G		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701000													31	75					0	0	0.007291	0	0
PYCR1	5831	broad.mit.edu	37	17	79891108	79891108	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:79891108G>A	ENST00000329875.8	-	7	1006	c.942C>T	c.(940-942)gcC>gcT	p.A314A	PYCR1_ENST00000337943.5_Intron|PYCR1_ENST00000402252.2_Silent_p.A341A|PYCR1_ENST00000403172.4_Silent_p.A283A|PYCR1_ENST00000577756.1_3'UTR	NM_006907.2	NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	314					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	TGCCCGCTGGGGCCAGGCTGC	0.622000													39	89					0	0	0.013114	0	0
ZNF831	128611	broad.mit.edu	37	20	57767866	57767866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:57767866G>A	ENST00000371030.2	+	1	1792	c.1792G>A	c.(1792-1794)Ggc>Agc	p.G598S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	598						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCCATGGCCGGCAAGGGCAG	0.647000													33	88					0	0	0.012213	0	0
RETSAT	54884	broad.mit.edu	37	2	85571139	85571139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:85571139G>A	ENST00000295802.4	-	9	1628	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.P445S	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	506					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCCAGCTGTGGGAACAGTTTC	0.552000													119	250					0	0	0.014410	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900002	112900002	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:112900002C>T	ENST00000374530.3	+	8	2358	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	AKAP2_ENST00000434623.2_Silent_p.F584F|AKAP2_ENST00000510514.5_Silent_p.F726F|AKAP2_ENST00000555236.1_Silent_p.F726F|AKAP2_ENST00000374525.1_Silent_p.F584F|PALM2-AKAP2_ENST00000302798.7_Silent_p.F726F|AKAP2_ENST00000259318.7_Silent_p.F495F	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		495							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCAATGATTTCAGCATGGACA	0.502000													38	133					0	0	0.006999	0	0
OSMR	9180	broad.mit.edu	37	5	38876418	38876418	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:38876418G>A	ENST00000274276.3	+	3	591	c.189G>A	c.(187-189)ttG>ttA	p.L63L	OSMR_ENST00000502536.1_Silent_p.L63L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	63					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATCAGGAATTGAAAATGGTAT	0.358000													35	54					0	0	0.013726	0	0
LIPI	149998	broad.mit.edu	37	21	15561499	15561499	+	Silent	SNP	G	G	A	rs148528170	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:15561499G>A	ENST00000344577.2	-	2	376	c.351C>T	c.(349-351)ttC>ttT	p.F117F	LIPI_ENST00000536861.1_Silent_p.F96F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	96					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F117F(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAATCCTTACGAAGTTCTGAA	0.368000													31	77					0	0	0.009535	0	0
LRP1	4035	broad.mit.edu	37	12	57561243	57561243	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57561243C>T	ENST00000243077.3	+	19	3397	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	977	LDL-receptor class A 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACCTGCTTCCCCCTGACTC	0.522000													54	138					0	0	0.014410	0	0
IMPACT	55364	broad.mit.edu	37	18	22023054	22023054	+	Missense_Mutation	SNP	C	C	T	rs141355151		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:22023054C>T	ENST00000284202.4	+	7	673	c.532C>T	c.(532-534)Cct>Tct	p.P178S		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	178										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TCATGGCATTCCTATTACAGA	0.348000													66	91					0	0	0.014410	0	0
OR51F2	119694	broad.mit.edu	37	11	4843021	4843021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4843021C>T	ENST00000322110.5	+	1	471	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTTTGATCGTTTTGTGGC	0.463000													58	122					0	0	0.014410	0	0
OGFOD3	79701	broad.mit.edu	37	17	80373338	80373338	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80373338G>A	ENST00000313056.5	-	2	391	c.240C>T	c.(238-240)gtC>gtT	p.V80V	OGFOD3_ENST00000329197.5_Silent_p.V80V	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		TCCCTGCCACGACCTCGCCAC	0.622000													44	160					0	0	0.014410	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	G	A	rs142743963	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4869859G>A	ENST00000322101.2	-	1	655	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000													28	54					0	0	0.009535	0	0
SVEP1	79987	broad.mit.edu	37	9	113168712	113168712	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113168712G>A	ENST00000401783.2	-	38	9504	c.9168C>T	c.(9166-9168)ttC>ttT	p.F3056F	SVEP1_ENST00000297826.5_Silent_p.F982F|SVEP1_ENST00000374469.1_Silent_p.F3033F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3056	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACAGTGGGGGAACCCAGAGC	0.488000													28	78					0	0	0.007291	0	0
PCDH19	57526	broad.mit.edu	37	X	99597041	99597041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:99597041C>T	ENST00000373034.4	-	5	4383	c.2708G>A	c.(2707-2709)aGc>aAc	p.S903N	PCDH19_ENST00000420881.2_Missense_Mutation_p.S855N|PCDH19_ENST00000255531.7_Missense_Mutation_p.S856N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	903					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATCCTTCAGGCTGTTGCCCTC	0.468000													48	76					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237791158	237791158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:237791158C>T	ENST00000366574.2	+	41	6535	c.6218C>T	c.(6217-6219)tCt>tTt	p.S2073F	RYR2_ENST00000360064.6_Missense_Mutation_p.S2071F|RYR2_ENST00000542537.1_Missense_Mutation_p.S2057F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2073	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCAGGAGTCTGTCATTGAA	0.493000													11	23					0	0	0.008291	0	0
ANKRD12	23253	broad.mit.edu	37	18	9211730	9211730	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:9211730A>G	ENST00000383440.2	+	5	788	c.531A>G	c.(529-531)caA>caG	p.Q177Q	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000262126.3_Silent_p.Q200Q|ANKRD12_ENST00000400020.3_Silent_p.Q177Q	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	200						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGTGAAACAAGTTAAAGAAT	0.343000													19	33					0	0	0.014323	0	0
ELK4	2005	broad.mit.edu	37	1	205589679	205589679	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205589679C>T	ENST00000357992.4	-	3	834	c.495G>A	c.(493-495)ttG>ttA	p.L165L	ELK4_ENST00000289703.4_Silent_p.L165L	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CAGTCTTTATCAATTTGAAAA	0.423000			T	SLC45A3	prostate								39	72					0	0	0.006999	0	0
PLXNA4	91584	broad.mit.edu	37	7	132169627	132169627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:132169627C>T	ENST00000378539.5	-	5	1893	c.1517G>A	c.(1516-1518)aGa>aAa	p.R506K	PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000321063.4_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	0	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGCTGGACTCTCTGATCTGA	0.418000													51	95					0	0	0.014410	0	0
TENM3	55714	broad.mit.edu	37	4	183673086	183673086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:183673086G>A	ENST00000511685.1	+	20	3886	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.E1255K					teneurin transmembrane protein 3																		TAAAAATGCAGAAGTCGTCGC	0.537000													16	68					0	0	0.003163	0	0
ABCA6	23460	broad.mit.edu	37	17	67101643	67101643	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:67101643G>A	ENST00000284425.2	-	20	2874	c.2700C>T	c.(2698-2700)ccC>ccT	p.P900P		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	900					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGGGTTCCTGGGGAAGTTGTC	0.318000													7	24					0	0	0.006214	0	0
IARS	3376	broad.mit.edu	37	9	95027254	95027254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:95027254G>A	ENST00000375643.3	-	16	1923	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S	IARS_ENST00000447699.2_Missense_Mutation_p.P443S|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.P553S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	553					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATCTGCAGGAAAAGCATCC	0.433000													14	36					0	0	0.003163	0	0
SHANK1	50944	broad.mit.edu	37	19	51215336	51215336	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51215336C>T	ENST00000293441.1	-	6	846	c.828G>A	c.(826-828)aaG>aaA	p.K276K	SHANK1_ENST00000391814.1_Silent_p.K276K|SHANK1_ENST00000359082.3_Silent_p.K276K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	276					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCGACGGTCCTTGTAGTTGG	0.592000													39	68					0	0	0.007835	0	0
CTSL	1514	broad.mit.edu	37	9	90343257	90343257	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:90343257C>T	ENST00000343150.5	+	4	1232	c.342C>T	c.(340-342)gcC>gcT	p.A114A	CTSL_ENST00000340342.6_Silent_p.A114A|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.A114A					cathepsin L																		TTTATGAGGCCCCCAGATCTG	0.502000													32	94					0	0	0.013726	0	0
COL4A4	1286	broad.mit.edu	37	2	227946830	227946830	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:227946830C>T	ENST00000396625.3	-	23	1904		c.e23+1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATTATGCTCACCTTTAACTCT	0.423000													45	123					0	0	0.011902	0	0
ABCC6	368	broad.mit.edu	37	16	16269830	16269830	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:16269830C>T	ENST00000205557.7	-	20	2633	c.2604G>A	c.(2602-2604)ggG>ggA	p.G868G		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	868					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGGTGCTGGTCCCAGGTTCTG	0.592000													38	79					0	0	0.008740	0	0
FMO1	2326	broad.mit.edu	37	1	171254340	171254340	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171254340G>A	ENST00000354841.4	+	8	1387		c.e8-1		FMO1_ENST00000402921.2_Splice_Site|FMO1_ENST00000469112.1_Splice_Site|FMO1_ENST00000367750.3_Splice_Site			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1						NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTTTATAAAGGTTTGGCTTG	0.368000													24	69					0	0	0.002780	0	0
LECT1	11061	broad.mit.edu	37	13	53307459	53307459	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:53307459C>T	ENST00000448904.2	-	3	359	c.249G>A	c.(247-249)ggG>ggA	p.G83G	LECT1_ENST00000377962.3_Silent_p.G83G	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	83					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTTGTAATTTCCCATTGATAC	0.378000													67	91					0	0	0.014410	0	0
BRINP3	339479	broad.mit.edu	37	1	190250853	190250853	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:190250853G>A	ENST00000367462.3	-	3	495	c.264C>T	c.(262-264)aaC>aaT	p.N88N	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		88						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAACTGCAAGGTTATTTACTT	0.408000													8	22					0	0	0.008291	0	0
KALRN	8997	broad.mit.edu	37	3	124181391	124181391	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124181391C>T	ENST00000360013.3	+	25	4063	c.3936C>T	c.(3934-3936)acC>acT	p.T1312T	KALRN_ENST00000460856.1_Silent_p.T1303T|KALRN_ENST00000240874.3_Silent_p.T1312T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1312	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGAAATGACCAGTGGTGTGG	0.443000													21	30					0	0	0.014323	0	0
VPS52	6293	broad.mit.edu	37	6	33231636	33231636	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33231636G>A	ENST00000445902.2	-	16	1859	c.1641C>T	c.(1639-1641)gtC>gtT	p.V547V	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.V422V	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	547					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCACTCGGAGGACAAAATTCT	0.527000													27	69					0	0	0.003954	0	0
WDFY3	23001	broad.mit.edu	37	4	85645656	85645656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:85645656G>A	ENST00000322366.6	-	45	7720	c.7313C>T	c.(7312-7314)gCc>gTc	p.A2438V	WDFY3_ENST00000295888.4_Missense_Mutation_p.A2455V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2455						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCCACAATGGCGTCTTGGAC	0.463000													32	88					0	0	0.003755	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693132	187693132	+	Missense_Mutation	SNP	G	G	A	rs138793510		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:187693132G>A	ENST00000295131.2	-	9	1520	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	494					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAGATACCTGGGAAAATGTTG	0.318000													9	31					0	0	0.006214	0	0
FHOD3	80206	broad.mit.edu	37	18	34182646	34182646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:34182646C>T	ENST00000257209.4	+	8	850	c.728C>T	c.(727-729)cCt>cTt	p.P243L	FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.P243L|FHOD3_ENST00000445677.1_Missense_Mutation_p.P243L|FHOD3_ENST00000590592.1_Missense_Mutation_p.P243L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	243	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGGGTCAAACCTTGGTCAAAT	0.373000													54	39					0	0	0.014410	0	0
GHR	2690	broad.mit.edu	37	5	42718947	42718947	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:42718947C>T	ENST00000230882.4	+	10	1528	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	GHR_ENST00000537449.1_Silent_p.P259P|GHR_ENST00000357703.3_Silent_p.P424P	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	446					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTCAGCAGCCCAGTGTTATCC	0.453000													19	50					0	0	0.007413	0	0
ZNF484	83744	broad.mit.edu	37	9	95610105	95610105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:95610105G>A	ENST00000395505.2	-	3	948	c.856C>T	c.(856-858)Cct>Tct	p.P286S	ZNF484_ENST00000332591.6_Missense_Mutation_p.P286S|ZNF484_ENST00000375495.3_Missense_Mutation_p.P322S|ZNF484_ENST00000395506.3_Missense_Mutation_p.P324S|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCCTCATAAGGAGTTTTCTGA	0.423000													39	94					0	0	0.006999	0	0
HLA-B	3106	broad.mit.edu	37	6	31322439	31322439	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31322439C>G	ENST00000412585.2	-	6	1044	c.1016G>C	c.(1015-1017)gGa>gCa	p.G339A		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCTCCTTTTCCACCTGTGGG	0.562000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				37	111					0	0	0.006999	0	0
GABRA6	2559	broad.mit.edu	37	5	161116026	161116026	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:161116026G>A	ENST00000523217.1	+	4	509	c.267G>A	c.(265-267)gaG>gaA	p.E89E	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Silent_p.E99E	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	99					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCCAACTGAGATTCTGAGTC	0.413000										TCGA Ovarian(5;0.080)			42	63					0	0	0.014410	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713587	70713587	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:70713587C>T	ENST00000530196.1	-	0	931					NR_003951.1																						GAAAACATTTCCTTGATTCCA	0.378000													31	91					0	0	0.007291	0	0
ITGA2	3673	broad.mit.edu	37	5	52344192	52344192	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:52344192G>A	ENST00000296585.5	+	5	530		c.e5-1			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTCTTTGAAGACATGTGGTC	0.418000													27	28					0	0	0.006320	0	0
CR1	1378	broad.mit.edu	37	1	207758173	207758173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207758173G>A	ENST00000367049.4	+	33	5482	c.5482G>A	c.(5482-5484)Ggg>Agg	p.G1828R	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.G1378R|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.G1378R|CR1_ENST00000367051.1_Missense_Mutation_p.G1378R|CR1_ENST00000367052.1_Missense_Mutation_p.G1378R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1378	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCATGGGAATGGGGTTTGGAG	0.517000													44	173					0	0	0.014410	0	0
WDR66	144406	broad.mit.edu	37	12	122361869	122361869	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:122361869G>A	ENST00000288912.4	+	3	1574	c.720G>A	c.(718-720)aaG>aaA	p.K240K	WDR66_ENST00000397454.2_Silent_p.K240K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	240							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGTTTCAAAAGGATAAAAGCA	0.478000													43	110					0	0	0.014410	0	0
CAMLG	819	broad.mit.edu	37	5	134076939	134076939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:134076939C>T	ENST00000297156.2	+	2	479	c.359C>T	c.(358-360)cCa>cTa	p.P120L	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	120					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TTCATTAAACCACCTGAGTGC	0.572000													41	69					0	0	0.009718	0	0
VPS13D	55187	broad.mit.edu	37	1	12416001	12416001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12416001C>T	ENST00000358136.3	+	48	9855	c.9725C>T	c.(9724-9726)cCa>cTa	p.P3242L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3217L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3241					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGCTCATTCCACCTGGAACC	0.443000													28	86					0	0	0.006320	0	0
CTRC	11330	broad.mit.edu	37	1	15771198	15771198	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:15771198G>A	ENST00000375949.4	+	6	617	c.591G>A	c.(589-591)aaG>aaA	p.K197K	CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	197	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGGTGAAGAAAACCATGG	0.602000													32	82					0	0	0.013726	0	0
TUBG1	7283	broad.mit.edu	37	17	40766394	40766394	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:40766394C>T	ENST00000251413.3	+	9	1022	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	320					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACATCGCCATCCTCAACATCA	0.627000													28	57					0	0	0.008361	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717586	142717586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:142717586C>T	ENST00000381779.4	-	2	1564	c.1339G>A	c.(1339-1341)Ggt>Agt	p.G447S	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G447S|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G447S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	447						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTATGAAGACCTGAAAATATT	0.368000													43	60					0	0	0.007835	0	0
MRC2	9902	broad.mit.edu	37	17	60742190	60742190	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:60742190C>T	ENST00000303375.5	+	2	802	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	134	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTCCTTGCTCCTGGGGGCCCG	0.622000													38	100					0	0	0.004878	0	0
IRX2	153572	broad.mit.edu	37	5	2749165	2749165	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:2749165C>T	ENST00000382611.6	-	3	905	c.655_splice	c.e3-1	p.G219_splice	IRX2_ENST00000302057.5_Splice_Site_p.G219_splice|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCAGGCTGATCCCTGTGGGGG	0.741000													11	32					0	0	0.010729	0	0
WDR64	128025	broad.mit.edu	37	1	241886654	241886654	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:241886654G>A	ENST00000366552.2	+	9	1287	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	WDR64_ENST00000437684.2_Silent_p.G360G	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	360										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGCCAGTAGGGAAACTTGTAG	0.448000													24	55					0	0	0.003954	0	0
C10orf2	56652	broad.mit.edu	37	10	102749036	102749036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:102749036C>T	ENST00000370228.1	+	1	1254	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Missense_Mutation_p.R357C	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	357			R -> P (in PEOA3).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCGTATTCTTCGTACCGCCCT	0.567000													56	71					0	0	0.014410	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461381	5461381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:5461381C>T	ENST00000296564.7	+	13	2156	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	645										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GGCAGTAATCCCCAGTCTTCT	0.398000													39	98					0	0	0.008740	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215606	20215606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20215606C>T	ENST00000331723.1	+	1	20	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACAAGATTCTAATGTGACA	0.333000													12	45					0	0	0.001855	0	0
CTSG	1511	broad.mit.edu	37	14	25044536	25044536	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:25044536C>T	ENST00000216336.2	-	2	174	c.138G>A	c.(136-138)caG>caA	p.Q46Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	46	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CACATCTGCTCTGACCTGCTG	0.587000													55	170					0	0	0.014410	0	0
INTS1	26173	broad.mit.edu	37	7	1511998	1511998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:1511998G>A	ENST00000389470.4	-	45	6706	c.6707C>T	c.(6706-6708)cCc>cTc	p.P2236L	INTS1_ENST00000404767.3_Missense_Mutation_p.P2032L			Q8N201	INT1_HUMAN	integrator complex subunit 1	2032					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCTGACCAGGGGCAAGGAGCC	0.672000													3	10					0	0	0.004672	0	0
NYAP2	57624	broad.mit.edu	37	2	226447029	226447029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:226447029C>T	ENST00000272907.6	+	4	1309	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	299																	TGTGCTACTCCCACGGTGCCT	0.577000													41	96					0	0	0.008740	0	0
FLG2	388698	broad.mit.edu	37	1	152326553	152326553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152326553C>T	ENST00000388718.5	-	3	3781	c.3709G>A	c.(3709-3711)Gaa>Aaa	p.E1237K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1237	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)			TGAGTAGTTTCCTGTCTCCCA	0.478000													80	157					0	0	0.014410	0	0
ZNF236	7776	broad.mit.edu	37	18	74659504	74659504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:74659504G>A	ENST00000253159.8	+	27	5002	c.4804G>A	c.(4804-4806)Gat>Aat	p.D1602N	ZNF236_ENST00000320610.9_Missense_Mutation_p.D1604N	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1602					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCTCCTCACGGATCCCTCTCT	0.478000													72	70					0	0	0.014410	0	0
PAPPA	5069	broad.mit.edu	37	9	118997908	118997908	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:118997908C>T	ENST00000328252.3	+	7	3093	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	908					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATAGGAAATTCGTAGACATGT	0.517000													37	90					0	0	0.004289	0	0
MYO3B	140469	broad.mit.edu	37	2	171056708	171056708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:171056708C>T	ENST00000334231.6	+	3	262	c.262C>T	c.(262-264)Cct>Tct	p.P88S	MYO3B_ENST00000409044.3_Missense_Mutation_p.P79S|MYO3B_ENST00000408978.4_Missense_Mutation_p.P79S|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	79	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGTTCCTTCCTAATCATCC	0.423000													16	51					0	0	0.004007	0	0
PARP4	143	broad.mit.edu	37	13	25049660	25049660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25049660G>A	ENST00000381989.3	-	15	1969	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	622	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCCTCCAGAGGAACCAAGTTC	0.448000													58	82					0	0	0.014410	0	0
OSBPL11	114885	broad.mit.edu	37	3	125298879	125298879	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:125298879A>G	ENST00000296220.5	-	3	528	c.239T>C	c.(238-240)tTt>tCt	p.F80S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	80	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GTTTAAAACAAAAAACCTGTA	0.343000													46	55					0	0	0.013114	0	0
FAM126B	285172	broad.mit.edu	37	2	201846418	201846418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:201846418C>T	ENST00000418596.2	-	12	1355	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	390						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATGGCAGAGGCTGTTTCTTTA	0.488000													20	59					0	0	0.010504	0	0
TCOF1	6949	broad.mit.edu	37	5	149775884	149775884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:149775884C>T	ENST00000451292.1	+	25	4040	c.3932C>T	c.(3931-3933)tCc>tTc	p.S1311F	TCOF1_ENST00000504761.2_Missense_Mutation_p.S1274F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S1197F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1275F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1237F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S1198F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1274F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1274					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCAGAAGTCCCGGAAGCCC	0.582000													50	80					0	0	0.014410	0	0
SNUPN	10073	broad.mit.edu	37	15	75890763	75890763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75890763G>A	ENST00000371091.5	-	10	1597	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	SNUPN_ENST00000564675.1_Missense_Mutation_p.S340F|SNUPN_ENST00000567134.1_Missense_Mutation_p.S340F|SNUPN_ENST00000308588.5_Missense_Mutation_p.S340F|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000564644.1_Missense_Mutation_p.S340F			O95149	SPN1_HUMAN	snurportin 1	340					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CTTGGGAGTAGACAGGTGCTC	0.502000													43	113					0	0	0.010771	0	0
IFNA6	3443	broad.mit.edu	37	9	21350614	21350614	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:21350614G>A	ENST00000380210.1	-	1	763	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	91					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTTTGTGCTGAAGAGGTTGA	0.488000													36	115					0	0	0.003755	0	0
GLI2	2736	broad.mit.edu	37	2	121746042	121746042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:121746042C>T	ENST00000452319.1	+	14	2612	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	GLI2_ENST00000314490.11_Missense_Mutation_p.S523F|GLI2_ENST00000361492.4_Missense_Mutation_p.S851F			P10070	GLI2_HUMAN	GLI family zinc finger 2	851	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACGCGAGCTCCGCTGACTCC	0.751000													9	15					0	0	0.006214	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1338079	1338079	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:1338079G>A	ENST00000320895.5	-	5	875	c.618C>T	c.(616-618)acC>acT	p.T206T	CLPTM1L_ENST00000507807.1_Silent_p.T73T|CLPTM1L_ENST00000320927.6_Silent_p.T206T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	206					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGTAATGCACGGTTTTCCCCA	0.522000													10	31					0	0	0.013537	0	0
IL23R	149233	broad.mit.edu	37	1	67666433	67666433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:67666433G>A	ENST00000347310.5	+	5	676	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.E169K	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	169	Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGAGACAGAAGAAGAGCAACA	0.383000													27	115					0	0	0.007291	0	0
LPCAT4	254531	broad.mit.edu	37	15	34652410	34652410	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34652410C>T	ENST00000314891.6	-	12	1321	c.1143_splice	c.e12-1	p.D382_splice		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	382					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCCTTGGTATCCTGGTGTGAA	0.557000													33	78					0	0	0.012213	0	0
COL21A1	81578	broad.mit.edu	37	6	55924020	55924020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:55924020C>T	ENST00000244728.5	-	29	3026	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	COL21A1_ENST00000535941.1_Missense_Mutation_p.E877K|COL21A1_ENST00000370819.1_Missense_Mutation_p.E874K|COL21A1_ENST00000370808.2_Missense_Mutation_p.E243K|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	877	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.E877K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCCTTTTTCCCCATTTCTT	0.448000													6	13					0	0	0.003080	0	0
MYOC	4653	broad.mit.edu	37	1	171605543	171605543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171605543C>T	ENST00000037502.5	-	3	1096	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	346	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGCTCATATCTTATGACAGT	0.532000													68	77					0	0	0.014410	0	0
NTN4	59277	broad.mit.edu	37	12	96181211	96181211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:96181211C>T	ENST00000343702.4	-	2	539	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	NTN4_ENST00000538383.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.E31K|NTN4_ENST00000344911.4_5'UTR	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	31	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAGGCTTTTTCACAGCGGGAA	0.512000													33	103					0	0	0.003755	0	0
TTC3	7267	broad.mit.edu	37	21	38524310	38524310	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:38524310C>T	ENST00000399017.2	+	26	5141	c.2394C>T	c.(2392-2394)ccC>ccT	p.P798P	TTC3_ENST00000355666.1_Silent_p.P798P|TTC3_ENST00000540756.1_Silent_p.P488P|TTC3_ENST00000354749.2_Silent_p.P798P|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	798					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTAATCCACCCAAAAATGAAG	0.323000													54	173					0	0	0.014410	0	0
ACSS2	55902	broad.mit.edu	37	20	33513985	33513985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:33513985C>T	ENST00000360596.2	+	16	2015	c.1804C>T	c.(1804-1806)Cac>Tac	p.H602Y	ACSS2_ENST00000253382.5_Missense_Mutation_p.H615Y|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.H552Y	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	602					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGGTGGGCCACCCTCATCC	0.562000													38	101					0	0	0.004878	0	0
SLC27A3	11000	broad.mit.edu	37	1	153750724	153750724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153750724G>A	ENST00000271857.2	+	5	2393	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.G464R			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	464					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCGGCGCTTCGGGCCCCTGCA	0.642000													54	168					0	0	0.014410	0	0
IVD	3712	broad.mit.edu	37	15	40710429	40710429	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:40710429C>T	ENST00000249760.2	+	12	1582	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	IVD_ENST00000479013.2_Silent_p.V386V|IVD_ENST00000487418.2_Silent_p.V416V	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	413					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GGCGGCTGGTCATCGGCAGAG	0.562000													45	138					0	0	0.014410	0	0
EMR1	2015	broad.mit.edu	37	19	6896522	6896522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6896522C>T	ENST00000312053.4	+	3	245	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000450315.3_Missense_Mutation_p.H70Y|EMR1_ENST00000381404.4_Missense_Mutation_p.H70Y|EMR1_ENST00000381407.5_Missense_Mutation_p.H70Y|EMR1_ENST00000250572.8_Missense_Mutation_p.H70Y	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	70	EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGGCAAAATCACTTCAAGGA	0.483000													29	66					0	0	0.006320	0	0
DSG4	147409	broad.mit.edu	37	18	28993089	28993089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:28993089C>T	ENST00000359747.4	+	15	2740	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P885L|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	885					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGATTGACTCCCTCAGAAGTT	0.433000													93	129					0	0	0.014410	0	0
SEMA4D	10507	broad.mit.edu	37	9	91993723	91993723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:91993723C>T	ENST00000450295.1	-	16	3261	c.2485G>A	c.(2485-2487)Gat>Aat	p.D829N	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.D829N|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.D829N|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.D829N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	829					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TCCTCCCTATCCGTGGGGACT	0.587000													37	109					0	0	0.003755	0	0
DSP	1832	broad.mit.edu	37	6	7585285	7585285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:7585285C>T	ENST00000379802.3	+	24	8131	c.7790C>T	c.(7789-7791)tCc>tTc	p.S2597F	DSP_ENST00000418664.2_Missense_Mutation_p.S1998F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2597	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCACCATATCCAGCGTCAGG	0.473000													43	135					0	0	0.007835	0	0
OR11L1	391189	broad.mit.edu	37	1	248004720	248004720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248004720G>A	ENST00000355784.2	-	1	534	c.479C>T	c.(478-480)tCc>tTc	p.S160F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATCATCAGGGAAGGCAGAAA	0.562000													40	129					0	0	0.009718	0	0
COL4A2	1284	broad.mit.edu	37	13	111138100	111138100	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:111138100C>G	ENST00000360467.5	+	34	3430	c.3124C>G	c.(3124-3126)Ccc>Gcc	p.P1042A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1042	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CATCGGAGTCCCCGGCATCCC	0.617000													73	59					0	0	0.014410	0	0
NANOS1	340719	broad.mit.edu	37	10	120789672	120789672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:120789672G>A	ENST00000425699.1	+	1	445	c.359G>A	c.(358-360)gGc>gAc	p.G120D		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	120					epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		gggtcccggggccgcTACCTG	0.791000													3	4					0	0	0.009096	0	0
MYOM2	9172	broad.mit.edu	37	8	2088741	2088741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2088741G>A	ENST00000262113.4	+	33	4037	c.3896G>A	c.(3895-3897)gGa>gAa	p.G1299E	MYOM2_ENST00000523438.1_Missense_Mutation_p.G724E|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1299					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGGATAAAGGAAAATACACT	0.428000													19	122					0	0	0.007413	0	0
CDH26	60437	broad.mit.edu	37	20	58564175	58564175	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:58564175C>T	ENST00000348616.4	+	9	1540	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	CDH26_ENST00000244047.5_Silent_p.L414L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	414	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCCTGGGACCCTGTTGGGAAC	0.537000													182	480					0	0	0.014410	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19716332	19716332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:19716332C>T	ENST00000284885.3	-	11	1250	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	406	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGCCCCACTCGTTCTTGTCT	0.383000													67	165					0	0	0.014410	0	0
HYAL4	23553	broad.mit.edu	37	7	123508613	123508613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:123508613G>A	ENST00000223026.4	+	3	924	c.286G>A	c.(286-288)Gga>Aga	p.G96R	HYAL4_ENST00000476325.1_Missense_Mutation_p.G96R	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	96					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAACAGATTGGGATACTATCC	0.398000													38	90					0	0	0.008740	0	0
COL4A4	1286	broad.mit.edu	37	2	227875143	227875143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:227875143G>A	ENST00000396625.3	-	46	4615	c.4408C>T	c.(4408-4410)Ctc>Ttc	p.L1470F	COL4A4_ENST00000329662.7_Missense_Mutation_p.L1467F	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1470	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGACTGTGGAGAACCAGGAGG	0.577000													36	64					0	0	0.003271	0	0
SPP2	6694	broad.mit.edu	37	2	234959619	234959619	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234959619C>T	ENST00000168148.3	+	2	178	c.90C>T	c.(88-90)ttC>ttT	p.F30F	SPP2_ENST00000373368.1_Silent_p.F30F|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	30					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GTCCAGGTTTCCCAGTGTACG	0.542000													11	36					0	0	0.010729	0	0
EDARADD	128178	broad.mit.edu	37	1	236645580	236645580	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:236645580C>T	ENST00000359362.5	+	6	463	c.249C>T	c.(247-249)gaC>gaT	p.D83D	EDARADD_ENST00000334232.4_Silent_p.D93D	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	93					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAGCAAGGACAACTCCTGCA	0.448000													16	131					0	0	0.006122	0	0
C6orf222	389384	broad.mit.edu	37	6	36298396	36298396	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:36298396G>A	ENST00000437635.2	-	2	249	c.72C>T	c.(70-72)gcC>gcT	p.A24A		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	24								p.A24A(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTTTCCCGGGGGCCTGCGGCC	0.642000													50	139					0	0	0.014410	0	0
UTRN	7402	broad.mit.edu	37	6	144843240	144843240	+	Missense_Mutation	SNP	C	C	T	rs144099534		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:144843240C>T	ENST00000367545.3	+	39	5666	c.5666C>T	c.(5665-5667)tCg>tTg	p.S1889L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1889					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTTGAATTATCGCTTAATGTT	0.393000													46	64					0	0	0.014410	0	0
KCNK5	8645	broad.mit.edu	37	6	39159100	39159100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:39159100C>T	ENST00000359534.3	-	5	1404	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	356					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GACACCTCTTCCAAGGTGGGC	0.667000													28	85					0	0	0.005443	0	0
PCNXL2	80003	broad.mit.edu	37	1	233160912	233160912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:233160912G>A	ENST00000258229.8	-	26	4819	c.4585C>T	c.(4585-4587)Ctc>Ttc	p.L1529F	PCNXL2_ENST00000344698.2_Missense_Mutation_p.L181F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1529						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAGCGGATGAGGATCCTTCGG	0.532000													27	117					0	0	0.007291	0	0
MYOM2	9172	broad.mit.edu	37	8	2044132	2044132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2044132G>A	ENST00000262113.4	+	18	2312	c.2171G>A	c.(2170-2172)gGc>gAc	p.G724D	MYOM2_ENST00000523438.1_Missense_Mutation_p.G149D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	724	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AACTGTGACGGCCACTCCATG	0.577000													71	139					0	0	0.014410	0	0
LIPG	9388	broad.mit.edu	37	18	47088769	47088769	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:47088769C>T	ENST00000261292.4	+	1	369	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	LIPG_ENST00000580036.1_Silent_p.L31L|LIPG_ENST00000427224.2_Silent_p.L31L|LIPG_ENST00000577628.1_Intron	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	31					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AGAGGGACGGCTGGAAGGTAA	0.542000													45	54					0	0	0.011902	0	0
ABCC9	10060	broad.mit.edu	37	12	21997802	21997802	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21997802G>A	ENST00000261200.4	-	25	3143	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	ABCC9_ENST00000345162.2_Silent_p.F1012F|ABCC9_ENST00000261201.4_Silent_p.F1048F|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1048	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAGGCAAAGGAAAATGCCTG	0.408000													10	40					0	0	0.006214	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22780192	22780192	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22780192C>T	ENST00000600260.1	+	0	270					NR_033899.1																						GGTTGCCACTCACCTGGAGAT	0.517000													28	114					0	0	0.007291	0	0
ERMP1	79956	broad.mit.edu	37	9	5805111	5805111	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:5805111G>A	ENST00000339450.5	-	10	1919	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Silent_p.L188L	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	610					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CACTTCTCCCGAGGATAGGGG	0.393000													19	59					0	0	0.007413	0	0
TPTE	7179	broad.mit.edu	37	21	10944679	10944679	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:10944679C>T	ENST00000298232.7	-	10	868	c.501G>A	c.(499-501)agG>agA	p.R167R	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.R147R|TPTE_ENST00000361285.4_Silent_p.R185R	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	185					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGAATATTCCTAAGCAACT	0.284000													28	198					0	0	0.005443	0	0
FAM47B	170062	broad.mit.edu	37	X	34961495	34961495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:34961495C>T	ENST00000329357.5	+	1	583	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	183										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGTAAATATCCCTGTGGGGA	0.642000													26	51					0	0	0.004656	0	0
ATP8B4	79895	broad.mit.edu	37	15	50190413	50190413	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:50190413G>A	ENST00000284509.6	-	22	2466	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L	ATP8B4_ENST00000559829.1_Silent_p.L775L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	775					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CAAGTTCTAGGAGATCATTCT	0.403000													8	35					0	0	0.003080	0	0
RYR3	6263	broad.mit.edu	37	15	34137075	34137075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34137075C>T	ENST00000389232.4	+	93	13379	c.13309C>T	c.(13309-13311)Cct>Tct	p.P4437S	RYR3_ENST00000415757.3_Missense_Mutation_p.P4432S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4437					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACTGAAGAACCTTTAGAAGA	0.413000													10	28					0	0	0.008291	0	0
KSR1	8844	broad.mit.edu	37	17	25932559	25932559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:25932559C>T	ENST00000398988.3	+	16	1814	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	KSR1_ENST00000509603.2_Missense_Mutation_p.R572C|KSR1_ENST00000319524.6_Missense_Mutation_p.R594C|KSR1_ENST00000268763.6_Missense_Mutation_p.R457C	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	592					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCCCATCTCTCGCAAGGCCAG	0.687000													7	11					0	0	0.001984	0	0
DIP2A	23181	broad.mit.edu	37	21	47961709	47961709	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47961709C>T	ENST00000318711.7	+	18	2263	c.2080C>T	c.(2080-2082)Ctg>Ttg	p.L694L	DIP2A_ENST00000427143.2_Silent_p.L629L|DIP2A_ENST00000466639.1_Silent_p.L650L|DIP2A_ENST00000417564.2_Silent_p.L693L|DIP2A_ENST00000400274.1_Silent_p.L689L|DIP2A_ENST00000457905.3_Silent_p.L693L|DIP2A_ENST00000435722.3_Silent_p.L693L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	693					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AAAAGCAGTCCTGTCGATGAA	0.488000													33	83					0	0	0.003271	0	0
LHCGR	3973	broad.mit.edu	37	2	48936102	48936102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:48936102G>A	ENST00000294954.7	-	8	686	c.665C>T	c.(664-666)aCa>aTa	p.T222I	LHCGR_ENST00000403273.1_Missense_Mutation_p.T222I|LHCGR_ENST00000401907.1_Missense_Mutation_p.T222I|LHCGR_ENST00000405626.1_Missense_Mutation_p.T222I|LHCGR_ENST00000344775.3_Missense_Mutation_p.T222I|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	222					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTTCGGCCCTGTGGCCCCACG	0.552000													39	127					0	0	0.013114	0	0
MUC16	94025	broad.mit.edu	37	19	9067599	9067599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9067599G>A	ENST00000397910.4	-	3	20050	c.19847C>T	c.(19846-19848)cCa>cTa	p.P6616L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6618	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						GACTTTGGGTGGTTCTGAGTA	0.453000													66	142					0	0	0.014410	0	0
TSIX	9383	broad.mit.edu	37	X	73046874	73046874	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:73046874C>T	ENST00000604411.1	+	0	34835				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GGAACATGGGCTTTCCATCTT	0.488000													36	46					0	0	0.003271	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564245	140564245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140564245C>T	ENST00000361016.2	+	1	3266	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.697000													108	165					0	0	0.014410	0	0
PLIN5	440503	broad.mit.edu	37	19	4523782	4523782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4523782C>T	ENST00000381848.3	-	8	1230	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	384						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCGGGTCGCTCCACAAGGATG	0.746000													20	64					0	0	0.008871	0	0
ZNF425	155054	broad.mit.edu	37	7	148802413	148802413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148802413G>A	ENST00000378061.2	-	4	682	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	184					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)			GGCCCTGTGGGAATTTCTAAG	0.478000													35	97					0	0	0.012213	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143253	91143253	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:91143253G>A	ENST00000371809.3	+	2	263	c.183G>A	c.(181-183)gtG>gtA	p.V61V	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	61							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TAGCCTATGTGAAACACCTGA	0.428000													49	58					0	0	0.014410	0	0
BTNL2	56244	broad.mit.edu	37	6	32372842	32372842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32372842C>T	ENST00000454136.3	-	2	305	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	BTNL2_ENST00000374995.3_Missense_Mutation_p.G101S|BTNL2_ENST00000429232.2_Missense_Mutation_p.G101S|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.G101S			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	101	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TTTGCAATGCCATTCTCTATC	0.517000													93	244					0	0	0.014410	0	0
SORCS1	114815	broad.mit.edu	37	10	108338907	108338907	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:108338907C>T	ENST00000344440.6	-	26	3473	c.3474G>A	c.(3472-3474)caG>caA	p.Q1158Q	SORCS1_ENST00000263054.6_Intron|SORCS1_ENST00000369698.1_Silent_p.Q693Q	NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1	NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	0						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTAGTTCAGTCTGAGGGACAT	0.493000													36	59					0	0	0.003271	0	0
CC2D1A	54862	broad.mit.edu	37	19	14020719	14020719	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:14020719C>T	ENST00000318003.7	+	2	385	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CC2D1A_ENST00000589606.1_Silent_p.F48F	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	48					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGCTGAGTTCTTGGCTTTGG	0.567000													45	68					0	0	0.013114	0	0
OR2A25	392138	broad.mit.edu	37	7	143771752	143771752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143771752C>T	ENST00000408898.2	+	1	478	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCATTGACTTCCTGGATTTTA	0.463000													72	163					0	0	0.014410	0	0
SLC12A1	6557	broad.mit.edu	37	15	48537004	48537004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:48537004G>A	ENST00000396577.3	+	11	1570	c.1355G>A	c.(1354-1356)gGg>gAg	p.G452E	SLC12A1_ENST00000380993.3_Missense_Mutation_p.G452E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G452E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	452					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATCATTTCTGGGATGAACTGC	0.478000													16	52					0	0	0.004007	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870393	51870393	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:51870393C>T	ENST00000371497.5	+	2	1283	c.396C>T	c.(394-396)atC>atT	p.I132I	TSHZ2_ENST00000603338.2_Silent_p.I129I|TSHZ2_ENST00000329613.6_Silent_p.I129I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	132					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)			ACGCCAACATCCTGTCGGATT	0.522000													34	91					0	0	0.003271	0	0
OR2T3	343173	broad.mit.edu	37	1	248637182	248637182	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248637182G>A	ENST00000359594.2	+	1	556	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GCCAGTCTAGGAAAATCCTGA	0.527000													32	97					0	0	0.013726	0	0
TTN	7273	broad.mit.edu	37	2	179514906	179514906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179514906C>T	ENST00000589042.1	-	210	40026	c.39802G>A	c.(39802-39804)Gtt>Att	p.V13268I	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V11761I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V10834I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11616	Ig-like 88.						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)			GGAGGTGGAACCTCTGGTTCC	0.408000													4	3					0	0	0.000602	0	0
CNOT2	4848	broad.mit.edu	37	12	70704717	70704717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:70704717G>A	ENST00000229195.3	+	3	670	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CNOT2_ENST00000418359.3_Missense_Mutation_p.E31K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	31					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAAGTTTGTAGAGGGGGTCGA	0.368000													19	57					0	0	0.007413	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058510	152058510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152058510G>A	ENST00000368806.1	-	3	1712	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	550							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGGCTGTTGGGAGTTTCAGAA	0.552000													88	142					0	0	0.014410	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600110	28600110	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:28600110C>T	ENST00000568624.1	-	0	384																											ACCTCTAGCTCCCTCCTTAGG	0.512000													11	70					0	0	0.013537	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672358	75672358	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:75672358G>A	ENST00000370855.5	-	24	2207	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	SLC44A5_ENST00000535611.1_Silent_p.F568F|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	698						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGGGGTTACGAAGTAGGGTT	0.413000													29	53					0	0	0.003271	0	0
CDH8	1006	broad.mit.edu	37	16	61761118	61761118	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:61761118C>T	ENST00000577390.1	-	9	2370	c.1414_splice	c.e9-1	p.R472_splice	CDH8_ENST00000299345.6_Splice_Site_p.R472_splice|CDH8_ENST00000577730.1_Splice_Site_p.R472_splice|CDH8_ENST00000584337.1_Splice_Site_p.R472_splice	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GACTGTGGTTCCCTATGGGAA	0.413000													12	43					0	0	0.013537	0	0
C3orf56	285311	broad.mit.edu	37	3	126915579	126915579	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126915579C>T	ENST00000398112.1	+	2	291	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TCCGCCGTGCCTTCGAGGCCT	0.607000													9	29					0	0	0.006214	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120848	119120848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:119120848C>T	ENST00000264245.4	+	10	1781	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	417					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGCAGTGATCGCAGCCATCT	0.647000													33	139					0	0	0.010818	0	0
LRP1B	53353	broad.mit.edu	37	2	141459349	141459349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141459349C>T	ENST00000389484.3	-	40	7339	c.6368G>A	c.(6367-6369)aGa>aAa	p.R2123K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2123					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGGCCGGTTCTCATGGTTAT	0.403000										TSP Lung(27;0.18)			18	45					0	0	0.006122	0	0
L1TD1	54596	broad.mit.edu	37	1	62672511	62672511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62672511G>A	ENST00000498273.1	+	3	506	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	71										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ggagatgagggaaactcttaa	0.373000													14	44					0	0	0.001855	0	0
LIPC	3990	broad.mit.edu	37	15	58830616	58830616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:58830616C>T	ENST00000414170.3	+	3	460	c.173C>T	c.(172-174)aCc>aTc	p.T58I	LIPC_ENST00000356113.6_Missense_Mutation_p.T58I|LIPC_ENST00000433326.2_Missense_Mutation_p.T58I|LIPC_ENST00000299022.5_Missense_Mutation_p.T58I			P11150	LIPC_HUMAN	lipase, hepatic	58					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTTGGAGAAACCAATCAGGGC	0.478000													101	276					0	0	0.014410	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245353	84245353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:84245353G>A	ENST00000324537.5	+	9	1000	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	SH3GL3_ENST00000427482.2_Missense_Mutation_p.E162K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E170K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.E162K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	162	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GAAAAAGCTGGAAGGCCGCCG	0.393000													28	38					0	0	0.009535	0	0
LRFN2	57497	broad.mit.edu	37	6	40400046	40400046	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:40400046C>T	ENST00000338305.6	-	2	1349	c.807G>A	c.(805-807)ggG>ggA	p.G269G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	269	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTTGAGGCCCCCTGGGGAGC	0.587000													30	64					0	0	0.006320	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623211	20623211	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:20623211G>A	ENST00000525748.1	+	2	813	c.540_splice	c.e2+1	p.Q180_splice		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	180					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGCCACCCAGGTAAGCAGGT	0.657000													6	36					0	0	0.001984	0	0
UNC45B	146862	broad.mit.edu	37	17	33482405	33482405	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:33482405C>T	ENST00000268876.5	+	7	827	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	UNC45B_ENST00000591048.1_Silent_p.L244L|UNC45B_ENST00000433649.1_Silent_p.L244L|UNC45B_ENST00000394570.2_Silent_p.L244L|UNC45B_ENST00000378449.1_Silent_p.L244L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	244					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGTCTGCAACCTGCTCCAAGC	0.542000													63	161					0	0	0.014410	0	0
KLKB1	3818	broad.mit.edu	37	4	187158058	187158058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:187158058C>T	ENST00000264690.6	+	5	639	c.452C>T	c.(451-453)tCa>tTa	p.S151L	KLKB1_ENST00000513864.1_Missense_Mutation_p.S151L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	151	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGTTTTTTTCATATGCCACG	0.413000													33	74					0	0	0.003271	0	0
CTSS	1520	broad.mit.edu	37	1	150724439	150724439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:150724439C>T	ENST00000368985.3	-	5	705	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.E99K	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	149					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTGTGCTTCCAGGGCCCCC	0.478000													47	111					0	0	0.014410	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651601	8651601	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:8651601C>T	ENST00000270328.4	-	19	2510	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ADAMTS10_ENST00000597188.1_Silent_p.L748L|ADAMTS10_ENST00000595838.1_Silent_p.L235L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	748	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGTCTCCCTTCAGGGCTGGGG	0.642000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	159					0	0	0.014410	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891684	2891684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:2891684G>A	ENST00000254528.3	+	4	1718	c.1559G>A	c.(1558-1560)gGg>gAg	p.G520E		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	520					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGTCCCCCAGGGGCAGCAGCC	0.507000													48	61					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25231976	25231976	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:25231976G>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						AGAATCTCTGGAAGAGATGAC	0.488000													8	22					0	0	0.003080	0	0
TRIML1	339976	broad.mit.edu	37	4	189068214	189068214	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:189068214G>A	ENST00000332517.3	+	6	1235	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	365	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAGCAGAAAGGGGAATCTCC	0.522000													16	106					0	0	0.006122	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697550	17697550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:17697550C>T	ENST00000399080.2	-	1	2156	c.2133G>A	c.(2131-2133)atG>atA	p.M711I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	711										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGGACAACTCATATTCTGAC	0.313000													16	117					0	0	0.006122	0	0
CACNA1E	777	broad.mit.edu	37	1	181687205	181687205	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:181687205C>T	ENST00000526775.1	+	12	1705	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	CACNA1E_ENST00000357570.5_Silent_p.L465L|CACNA1E_ENST00000367570.1_Silent_p.L514L|CACNA1E_ENST00000360108.3_Silent_p.L514L|CACNA1E_ENST00000367573.2_Silent_p.L514L|CACNA1E_ENST00000358338.5_Silent_p.L465L|CACNA1E_ENST00000367567.4_Silent_p.L121L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	514					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCAGAATTTCTGTTTCTGGG	0.463000													9	24					0	0	0.006214	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884134	24884134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24884134C>T	ENST00000382554.3	+	9	3497	c.3179C>T	c.(3178-3180)gCa>gTa	p.A1060V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1060					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGCCAGGGGCAGCTTCTCCC	0.647000													46	126					0	0	0.014410	0	0
ARMC1	55156	broad.mit.edu	37	8	66517710	66517710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:66517710G>A	ENST00000276569.3	-	5	773	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	ARMC1_ENST00000458464.2_Nonsense_Mutation_p.Q75*	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	177					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ACAGCCATTTGAAAAGTAAAG	0.328000													11	59					0	0	0.010729	0	0
CCDC37	348807	broad.mit.edu	37	3	126142196	126142196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126142196G>A	ENST00000393425.1	+	12	1213	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	CCDC37_ENST00000505024.1_Missense_Mutation_p.E372K|CCDC37_ENST00000352312.1_Missense_Mutation_p.E371K			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	371										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCCCACGCAGGAGGACACCGA	0.667000													20	31					0	0	0.003330	0	0
AKNA	80709	broad.mit.edu	37	9	117129925	117129925	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117129925G>A	ENST00000307564.4	-	6	1787	c.1626C>T	c.(1624-1626)ccC>ccT	p.P542P	AKNA_ENST00000223791.3_Silent_p.P2P|AKNA_ENST00000374088.3_Silent_p.P542P|AKNA_ENST00000312033.3_Silent_p.P542P|AKNA_ENST00000374075.5_Silent_p.P461P	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ACCCCAGGGTGGGCATGCTGG	0.612000													27	83					0	0	0.007291	0	0
ACO1	48	broad.mit.edu	37	9	32431821	32431821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:32431821G>A	ENST00000379923.1	+	16	2037	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	ACO1_ENST00000309951.5_Missense_Mutation_p.E611K|ACO1_ENST00000541043.1_Missense_Mutation_p.E512K	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	611					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GATGTTTAAGGAAGTCTATCA	0.517000											OREG0019130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	58					0	0	0.014323	0	0
NID1	4811	broad.mit.edu	37	1	236212240	236212240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:236212240G>A	ENST00000264187.6	-	2	357	c.275C>T	c.(274-276)tCc>tTc	p.S92F	NID1_ENST00000366595.3_Missense_Mutation_p.S92F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	92					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCCGGGATGGGATTCTTTGGC	0.532000													40	127					0	0	0.011902	0	0
SCN2A	6326	broad.mit.edu	37	2	166210825	166210825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:166210825G>A	ENST00000357398.3	+	17	3333	c.3043G>A	c.(3043-3045)Gat>Aat	p.D1015N	SCN2A_ENST00000375427.2_Missense_Mutation_p.D1015N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1015N|SCN2A_ENST00000375437.2_Missense_Mutation_p.D1015N			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1015					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAAAGGAATCGATTTTGTTAA	0.348000													57	153					0	0	0.014410	0	0
ACTC1	70	broad.mit.edu	37	15	35085666	35085666	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:35085666G>A	ENST00000290378.4	-	3	889	c.234C>T	c.(232-234)atC>atT	p.I78I	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	78					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCCAGTTGGTGATGATACCAT	0.567000													48	125					0	0	0.014410	0	0
MAP2K6	5608	broad.mit.edu	37	17	67501925	67501925	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:67501925G>A	ENST00000590474.1	+	2	308	c.21G>A	c.(19-21)aaG>aaA	p.K7K	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	7					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCATAGGCAAGAAGCGAAACC	0.433000													41	114					0	0	0.010771	0	0
SP140L	93349	broad.mit.edu	37	2	231254654	231254654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:231254654G>A	ENST00000243810.6	+	11	880	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	SP140L_ENST00000415673.2_Missense_Mutation_p.E294K|SP140L_ENST00000396563.4_Intron|SP140L_ENST00000444636.1_Missense_Mutation_p.E294K			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	294	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GCACAAAGATGAAACTGTGGA	0.433000													19	44					0	0	0.006122	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247319	89247319	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:89247319C>T	ENST00000496168.1	-	0	156																											GGGTCTGACTCCTGCACAAAG	0.587000													53	127					0	0	0.014410	0	0
SUSD2	56241	broad.mit.edu	37	22	24580798	24580798	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:24580798C>T	ENST00000358321.3	+	5	933	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	224					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCACACACATCCCCAACTCCG	0.567000													36	62					0	0	0.004289	0	0
LRP1B	53353	broad.mit.edu	37	2	141272273	141272273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141272273C>T	ENST00000389484.3	-	51	9189	c.8218G>A	c.(8218-8220)Gat>Aat	p.D2740N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2740	LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTCTCCATCACAAATCCAA	0.348000										TSP Lung(27;0.18)			31	71					0	0	0.003755	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748160	41748160	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:41748160G>A	ENST00000226382.2	-	3	968	c.609C>T	c.(607-609)aaC>aaT	p.N203N		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	203					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TGGGGGTGGGGTTGGGATTGG	0.736000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				20	77					0	0	0.005443	0	0
MICALCL	84953	broad.mit.edu	37	11	12316171	12316171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:12316171C>T	ENST00000256186.2	+	3	1484	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	398					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)		TCACTTTTTTCCTCCCTCAGA	0.453000													50	198					0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73480497	73480497	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:73480497G>A	ENST00000523207.1	+	2	1116	c.528G>A	c.(526-528)agG>agA	p.R176R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	176					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGATAAAAGGAAGAAACTGT	0.443000													34	97					0	0	0.003271	0	0
CLUL1	27098	broad.mit.edu	37	18	633399	633399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:633399G>A	ENST00000581619.1	+	6	1880	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	CLUL1_ENST00000400606.2_Missense_Mutation_p.E320K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E320K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E372K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E320K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	320					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CAAATTTCATGAAAAATGCCA	0.373000													13	22					0	0	0.013537	0	0
OR4M2	390538	broad.mit.edu	37	15	22368579	22368579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:22368579G>A	ENST00000332663.2	+	1	102	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGAAGAAATGGAAACTGCAAA	0.328000													24	101					0	0	0.003954	0	0
LIMCH1	22998	broad.mit.edu	37	4	41684366	41684366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:41684366G>A	ENST00000313860.7	+	21	2636	c.2582G>A	c.(2581-2583)gGa>gAa	p.G861E	LIMCH1_ENST00000509277.1_Missense_Mutation_p.G694E|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G860E|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G784E|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G714E|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1245E|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G701E|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G694E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G873E|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G701E|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G706E|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G861E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	861					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATAGACCTGGGAAACTGTCAA	0.363000													7	20					0	0	0.001984	0	0
MAP4K2	5871	broad.mit.edu	37	11	64559445	64559445	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:64559445G>A	ENST00000294066.2	-	27	2119	c.2028C>T	c.(2026-2028)tgC>tgT	p.C676C	MAP4K2_ENST00000377350.3_Silent_p.C668C	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	676	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						ACAGGACGCGGCAGCCGGGCC	0.701000													7	10					0	0	0.008291	0	0
FAT4	79633	broad.mit.edu	37	4	126329693	126329693	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:126329693C>T	ENST00000394329.3	+	4	5677	c.5664C>T	c.(5662-5664)atC>atT	p.I1888I	FAT4_ENST00000335110.5_Silent_p.I186I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1888	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGATGGCATCTTTTTCCTGA	0.373000													12	57					0	0	0.002450	0	0
USH2A	7399	broad.mit.edu	37	1	216107984	216107984	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:216107984G>C	ENST00000366943.2	-	38	7660	c.7274C>G	c.(7273-7275)cCt>cGt	p.P2425R	USH2A_ENST00000307340.3_Missense_Mutation_p.P2425R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2425	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTGTTATAGGATCAGTTAT	0.378000										HNSCC(13;0.011)			12	44					0	0	0.013537	0	0
RNF17	56163	broad.mit.edu	37	13	25416217	25416217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25416217G>A	ENST00000255324.5	+	19	2573	c.2521G>A	c.(2521-2523)Gat>Aat	p.D841N	RNF17_ENST00000381921.1_Missense_Mutation_p.D841N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	841					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGAGCTTTTCGATTCTCTTGG	0.348000													18	33					0	0	0.008871	0	0
OR6C70	390327	broad.mit.edu	37	12	55863714	55863714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55863714G>A	ENST00000327335.4	-	1	208	c.209C>T	c.(208-210)tCa>tTa	p.S70L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGTTGTGAATGAAATTTCCAG	0.388000													23	59					0	0	0.002780	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988778	64988778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:64988778C>T	ENST00000358738.3	+	2	947	c.556C>T	c.(556-558)Cct>Tct	p.P186S	ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186S|ZBTB1_ENST00000554015.1_Missense_Mutation_p.P186S|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AGGTAATTTTCCTGAGCCACT	0.413000													31	86					0	0	0.009535	0	0
ATG2A	23130	broad.mit.edu	37	11	64678165	64678165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:64678165C>T	ENST00000421419.2	-	12	1744	c.1630G>A	c.(1630-1632)Ggt>Agt	p.G544S	ATG2A_ENST00000377264.3_Missense_Mutation_p.G544S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	544							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCCAGCGTACCAGGAAAGGTC	0.667000													10	13					0	0	0.008291	0	0
CD163	9332	broad.mit.edu	37	12	7633767	7633767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7633767C>T	ENST00000359156.4	-	15	3535	c.3333G>A	c.(3331-3333)atG>atA	p.M1111I	CD163_ENST00000396620.3_Missense_Mutation_p.M1144I|CD163_ENST00000432237.2_Missense_Mutation_p.M1111I|CD163_ENST00000541972.1_Missense_Mutation_p.M1099I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1111					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						CTGAGGAATTCATTAGGTCCA	0.448000													23	66					0	0	0.003330	0	0
ATL2	64225	broad.mit.edu	37	2	38536592	38536592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:38536592G>A	ENST00000378954.4	-	9	1001	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	ATL2_ENST00000452935.2_Missense_Mutation_p.P316S|ATL2_ENST00000546051.1_Missense_Mutation_p.P163S|ATL2_ENST00000402054.1_Missense_Mutation_p.P163S|ATL2_ENST00000332337.4_Missense_Mutation_p.P316S|ATL2_ENST00000406122.1_Missense_Mutation_p.P163S|ATL2_ENST00000419554.2_Missense_Mutation_p.P334S|ATL2_ENST00000539122.1_Missense_Mutation_p.P163S	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	334					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAATTTTCAGGGGCAAGCAGC	0.328000													43	88					0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	38939129	38939129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:38939129C>T	ENST00000355481.4	+	10	1066	c.935C>T	c.(934-936)tCc>tTc	p.S312F	RYR1_ENST00000360985.3_Missense_Mutation_p.S312F|RYR1_ENST00000359596.3_Missense_Mutation_p.S312F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	312	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGGCTACCTCCTTCTGCTTC	0.647000													76	134					0	0	0.014410	0	0
NANOGP1	404635	broad.mit.edu	37	12	8050890	8050890	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:8050890G>A	ENST00000607111.1	+	0	293																				kidney(1)|lung(4)|prostate(1)	6						accagagaatgaaatctaaga	0.363000													16	33					0	0	0.006122	0	0
KRT38	8687	broad.mit.edu	37	17	39597035	39597035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39597035C>T	ENST00000246646.3	-	1	138	c.139G>A	c.(139-141)Gcc>Acc	p.A47T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	47	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCCACGTTGGCCAAAAGGCAC	0.627000													37	103					0	0	0.003755	0	0
INSRR	3645	broad.mit.edu	37	1	156812000	156812000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:156812000C>T	ENST00000368195.3	-	19	3697	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1101	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCATGCCGTCTGCAATCTCA	0.572000													15	51					0	0	0.004007	0	0
NPDC1	56654	broad.mit.edu	37	9	139935265	139935265	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139935265C>T	ENST00000371600.3	-	3	1463		c.e3+1		NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371601.4_Splice_Site			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1							integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCAAGACCTACCAAGGGCGAG	0.721000													4	22					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100679583	100679583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100679583G>A	ENST00000306151.4	+	3	4950	c.4886G>A	c.(4885-4887)gGa>gAa	p.G1629E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1629	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAAGGAAGTCCTCTA	0.502000													152	412					0	0	0.014410	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983291	140983291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:140983291G>A	ENST00000298296.1	+	6	1069	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000483584.1_Intron|MAGEC3_ENST00000448920.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	357	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGACAGGAAGATGGCCG	0.592000													18	31					0	0	0.006122	0	0
ANO5	203859	broad.mit.edu	37	11	22283728	22283728	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:22283728C>T	ENST00000324559.8	+	16	2001	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	562						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAAATGTTCCTGTTTCAGTT	0.323000													16	90					0	0	0.004007	0	0
CFAP54	144535	broad.mit.edu	37	12	97051840	97051840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:97051840G>A	ENST00000524981.3	+	4	634	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K				Q6ZTY8	CL063_HUMAN		186										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						GGAAAAATGGGAAACACTAGT	0.333000													21	74					0	0	0.014323	0	0
LIFR	3977	broad.mit.edu	37	5	38486020	38486020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:38486020C>T	ENST00000263409.4	-	17	2560	c.2398G>A	c.(2398-2400)Gat>Aat	p.D800N	LIFR_ENST00000453190.2_Missense_Mutation_p.D800N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	800	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCTTGAAGATCAGCAATTCTC	0.388000			T	PLAG1	salivary adenoma								24	69					0	0	0.003330	0	0
VPS13B	157680	broad.mit.edu	37	8	100128049	100128049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:100128049G>A	ENST00000395996.1	+	7	995	c.884G>A	c.(883-885)gGc>gAc	p.G295D	VPS13B_ENST00000358544.2_Missense_Mutation_p.G295D|VPS13B_ENST00000441350.2_Missense_Mutation_p.G295D|VPS13B_ENST00000357162.2_Missense_Mutation_p.G295D|VPS13B_ENST00000355155.1_Missense_Mutation_p.G295D			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	295					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)			TTTAAAGAAGGCGAAATAGAG	0.294000													11	76					0	0	0.010729	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441511	1441511	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:1441511C>T	ENST00000270349.9	-	3	508	c.381G>A	c.(379-381)ggG>ggA	p.G127G	SLC6A3_ENST00000453492.2_Silent_p.G127G	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	127					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CACCAGCGGCCCCTTCCCTGT	0.597000													38	104					0	0	0.005524	0	0
ARID4B	51742	broad.mit.edu	37	1	235392677	235392677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:235392677G>A	ENST00000264183.3	-	11	1263	c.766C>T	c.(766-768)Cac>Tac	p.H256Y	ARID4B_ENST00000349213.3_Missense_Mutation_p.H256Y|ARID4B_ENST00000366603.2_Missense_Mutation_p.H256Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTACTTTTGTGAAATTCAAGT	0.368000													30	52					0	0	0.003755	0	0
OTOP3	347741	broad.mit.edu	37	17	72945471	72945471	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72945471A>C	ENST00000328801.4	+	7	1751	c.1751A>C	c.(1750-1752)cAc>cCc	p.H584P		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	584						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TACCGCATGCACTCTGTGGGA	0.602000													29	109					0	0	0.012213	0	0
AMER3	205147	broad.mit.edu	37	2	131520927	131520927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:131520927G>A	ENST00000423981.1	+	2	1392	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	AMER3_ENST00000321420.4_Missense_Mutation_p.D428N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCTCTTCCACGACCCCAGCGA	0.637000													42	91					0	0	0.007835	0	0
RBM48	84060	broad.mit.edu	37	7	92158092	92158092	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:92158092G>A	ENST00000481551.1	+	0	6				RBM48_ENST00000265732.5_De_novo_Start_OutOfFrame			Q5RL73	CG064_HUMAN	RNA binding motif protein 48								nucleotide binding										CAGTAGGGCGGATGTTGTCCT	0.562000													15	35					0	0	0.002450	0	0
MALSU1	115416	broad.mit.edu	37	7	23349140	23349140	+	Missense_Mutation	SNP	C	C	T	rs147835768		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:23349140C>T	ENST00000466681.1	+	4	836	c.683C>T	c.(682-684)cCa>cTa	p.P228L		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	228						mitochondrion											TCTGTGACTCCAGTGGAGTTA	0.383000													8	59					0	0	0.004482	0	0
GCN1L1	10985	broad.mit.edu	37	12	120569807	120569807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:120569807G>A	ENST00000300648.6	-	54	7349	c.7337C>T	c.(7336-7338)tCa>tTa	p.S2446L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2446					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACCCGGCTGAGGAGATGCG	0.572000													6	23					0	0	0.001984	0	0
VWC2L	402117	broad.mit.edu	37	2	215440493	215440493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:215440493G>A	ENST00000312504.5	+	4	1420	c.618G>A	c.(616-618)tgG>tgA	p.W206*	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_3'UTR	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	206						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GGGACTGGTGGAAGCCTGCTC	0.478000													41	109					0	0	0.011902	0	0
NEK6	10783	broad.mit.edu	37	9	127113138	127113138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:127113138G>A	ENST00000373600.3	+	11	1171	c.956G>A	c.(955-957)tGc>tAc	p.C319Y	NEK6_ENST00000540326.1_Missense_Mutation_p.C303Y|NEK6_ENST00000539416.1_Missense_Mutation_p.C310Y|NEK6_ENST00000545174.1_Missense_Mutation_p.C285Y|NEK6_ENST00000373603.1_Missense_Mutation_p.C285Y|NEK6_ENST00000394199.2_Missense_Mutation_p.C319Y|NEK6_ENST00000320246.5_Missense_Mutation_p.C285Y|NEK6_ENST00000546191.1_Missense_Mutation_p.C285Y	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	285					apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GTCAGCATGTGCATCTGCCCT	0.552000													27	78					0	0	0.007291	0	0
SSPO	23145	broad.mit.edu	37	7	149506159	149506159	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149506159C>T	ENST00000378016.2	+	0	9151							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTTGGTCTCCGTGCTCCGT	0.687000													12	27					0	0	0.001855	0	0
LRFN2	57497	broad.mit.edu	37	6	40400412	40400412	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:40400412G>A	ENST00000338305.6	-	2	983	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	147						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATGTCAGCAGGAAGTCCTCAA	0.607000													28	92					0	0	0.006320	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16054325	16054325	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:16054325C>T	ENST00000375799.3	+	9	1985	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.F566F	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	586					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCTCGGAGTTCAGGTAACAAG	0.572000													6	11					0	0	0.001984	0	0
C15orf39	56905	broad.mit.edu	37	15	75499767	75499767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75499767C>T	ENST00000360639.2	+	2	1698	c.1378C>T	c.(1378-1380)Ccg>Tcg	p.P460S	C15orf39_ENST00000394987.4_Missense_Mutation_p.P460S|C15orf39_ENST00000567617.1_Missense_Mutation_p.P460S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	460										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCACTCTGGGCCGCCCATCGT	0.647000													37	96					0	0	0.007835	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20248603G>A	ENST00000315957.4	+	1	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000													79	307					0	0	0.014410	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													4	20					0.00909568	0.00921126	0.009096	1	0
ZFAND4	93550	broad.mit.edu	37	10	46121896	46121896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:46121896G>A	ENST00000374366.3	-	8	1618	c.1153C>T	c.(1153-1155)Ctt>Ttt	p.L385F	ZFAND4_ENST00000344646.5_Missense_Mutation_p.L459F|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	459							zinc ion binding										CGGTAGTTAAGAACTGAAGTC	0.458000													107	154					0	0	0.014410	0	0
CNTN4	152330	broad.mit.edu	37	3	2928840	2928840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:2928840G>A	ENST00000397461.1	+	9	1256	c.872G>A	c.(871-873)gGt>gAt	p.G291D	CNTN4_ENST00000427331.1_Missense_Mutation_p.G291D|CNTN4_ENST00000358480.3_Missense_Mutation_p.G72D|CNTN4_ENST00000418658.1_Missense_Mutation_p.G291D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	291	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAGGATGCTGGTTTATATGAA	0.393000													19	62					0	0	0.007413	0	0
C3	718	broad.mit.edu	37	19	6711027	6711027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6711027C>T	ENST00000245907.6	-	12	1542	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	484					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATCTTGGCCTCGTGGGCGCGG	0.602000													104	276					0	0	0.014410	0	0
MYOM2	9172	broad.mit.edu	37	8	2033485	2033485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2033485C>T	ENST00000262113.4	+	14	1748	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	536	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle	p.P536L(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCACCCACTCCCCGTGGCAAG	0.587000													15	54					0	0	0.003163	0	0
ZNF266	10781	broad.mit.edu	37	19	9524886	9524886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9524886G>A	ENST00000592904.1	-	5	2791	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	ZNF266_ENST00000361151.1_Missense_Mutation_p.P239S|ZNF266_ENST00000590306.1_Missense_Mutation_p.P239S|ZNF266_ENST00000592292.1_Missense_Mutation_p.P239S|ZNF266_ENST00000588221.1_Missense_Mutation_p.P239S|ZNF266_ENST00000588933.1_Missense_Mutation_p.P239S|ZNF266_ENST00000361451.2_Missense_Mutation_p.P239S			Q14584	ZN266_HUMAN	zinc finger protein 266	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CACTCATAGGGATTGTCTCCA	0.408000													36	87					0	0	0.004289	0	0
CLDN25	644672	broad.mit.edu	37	11	113650778	113650778	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:113650778C>T	ENST00000453129.2	+	1	310	c.261C>T	c.(259-261)tcC>tcT	p.S87S		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	87						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TGGTAGCCTCCCATGGGCTGG	0.567000													114	163					0	0	0.014410	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965728	35965728	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:35965728C>T	ENST00000274278.3	-	4	960	c.603G>A	c.(601-603)gtG>gtA	p.V201V	UGT3A1_ENST00000503189.1_Silent_p.V201V|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Silent_p.V147V|UGT3A1_ENST00000507113.1_Silent_p.V167V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	201						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAATTCTTCACTCGGCCCC	0.478000													22	57					0	0	0.002780	0	0
KIAA0196	9897	broad.mit.edu	37	8	126075787	126075787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:126075787G>A	ENST00000318410.7	-	11	1734	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	KIAA0196_ENST00000517845.1_Missense_Mutation_p.P314L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	462					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCTGGTTAGGGGTTTCACTCC	0.428000													36	127					0	0	0.003755	0	0
DLG2	1740	broad.mit.edu	37	11	83182697	83182697	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:83182697G>A	ENST00000398309.2	-	19	2573	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	DLG2_ENST00000426717.2_Silent_p.F165F|DLG2_ENST00000543673.1_Silent_p.F806F|DLG2_ENST00000376104.2_Silent_p.F806F|DLG2_ENST00000404783.3_Silent_p.F179F|DLG2_ENST00000376106.3_Silent_p.F165F|DLG2_ENST00000537455.1_Silent_p.F451F|DLG2_ENST00000330014.6_Silent_p.F622F|DLG2_ENST00000532653.1_Silent_p.F683F|DLG2_ENST00000531015.1_Silent_p.F668F|DLG2_ENST00000524982.1_Silent_p.F697F|DLG2_ENST00000280241.8_Silent_p.F740F|DLG2_ENST00000418306.2_Silent_p.F580F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	701	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATTTATCAGGGAATTCAGATA	0.423000													11	8					0	0	0.001855	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540798	133540798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:133540798G>A	ENST00000409261.1	-	14	3959	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1196S|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1196							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGCTTGCTGGATTCTTGGAG	0.493000													26	66					0	0	0.003954	0	0
EPHB6	2051	broad.mit.edu	37	7	142562484	142562484	+	Missense_Mutation	SNP	G	G	A	rs55728646	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142562484G>A	ENST00000392957.2	+	7	1713	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	EPHB6_ENST00000411471.2_Missense_Mutation_p.R32Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R309Q	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	309	Cys-rich.		R -> Q.			extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAACCAGCACGAGGAGACAAG	0.657000													60	116					0	0	0.014410	0	0
POTEE	445582	broad.mit.edu	37	2	132021641	132021641	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:132021641C>T	ENST00000356920.5	+	15	2707	c.2613C>T	c.(2611-2613)ctC>ctT	p.L871L	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	871	Actin-like.						ATP binding										GGAATGCCCTCCCCCATGCCA	0.622000													35	100					0	0	0.014410	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60217681	60217681	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:60217681A>G	ENST00000269499.5	+	5	1719	c.1301A>G	c.(1300-1302)gAg>gGg	p.E434G	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.E113G	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	434					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCTGACCTAGAGCCCATCCTA	0.493000													9	11					0	0	0.006214	0	0
PTPRE	5791	broad.mit.edu	37	10	129875895	129875895	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:129875895G>A	ENST00000254667.3	+	19	2019	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q	PTPRE_ENST00000306042.5_Silent_p.Q522Q|PTPRE_ENST00000419012.2_Silent_p.Q580Q	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	580	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGGCCCGCCAGGAGGAGCAGG	0.672000													20	22					0	0	0.002780	0	0
DIP2A	23181	broad.mit.edu	37	21	47918538	47918538	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47918538C>T	ENST00000318711.7	+	5	630	c.447C>T	c.(445-447)ccC>ccT	p.P149P	DIP2A_ENST00000427143.2_Silent_p.P85P|DIP2A_ENST00000466639.1_Silent_p.P149P|DIP2A_ENST00000417564.2_Silent_p.P149P|DIP2A_ENST00000400274.1_Silent_p.P149P|DIP2A_ENST00000457905.3_Silent_p.P149P|DIP2A_ENST00000435722.3_Silent_p.P149P	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	149					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TACGGCGACCCGGGCGACTCA	0.587000													101	259					0	0	0.014410	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42438057	42438057	+	Missense_Mutation	SNP	C	C	T	rs144729400		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42438057C>T	ENST00000397272.3	-	15	1676	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.G527R	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	527	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACATAAGCCCCGTACTTGGGG	0.592000													47	122					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141598492	141598492	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141598492G>A	ENST00000389484.3	-	30	6080	c.5109C>T	c.(5107-5109)gtC>gtT	p.V1703V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1703					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTACCCCCTGACTGGGTGAG	0.343000										TSP Lung(27;0.18)			21	54					0	0	0.012319	0	0
HIRA	7290	broad.mit.edu	37	22	19375274	19375274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:19375274G>A	ENST00000263208.5	-	11	1329	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	HIRA_ENST00000340170.4_Missense_Mutation_p.S358F|HIRA_ENST00000541063.1_Missense_Mutation_p.S314F|HIRA_ENST00000546308.1_Missense_Mutation_p.S314F	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	358					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTCATCCTGGGAGAAGTCGAG	0.572000													15	28					0	0	0.004990	0	0
FGFR2	2263	broad.mit.edu	37	10	123239450	123239450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:123239450G>A	ENST00000358487.5	-	18	2659	c.2387C>T	c.(2386-2388)tCt>tTt	p.S796F	FGFR2_ENST00000369061.4_Missense_Mutation_p.S684F|FGFR2_ENST00000356226.4_Missense_Mutation_p.S679F|FGFR2_ENST00000369060.4_Missense_Mutation_p.S680F|FGFR2_ENST00000346997.2_Missense_Mutation_p.S794F|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000478859.1_Missense_Mutation_p.S568F|FGFR2_ENST00000369059.1_Missense_Mutation_p.S682F|FGFR2_ENST00000457416.2_Missense_Mutation_p.S797F	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	796					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGAAAAAACAGAATCATCTCC	0.458000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				47	71					0	0	0.013114	0	0
NLRP3	114548	broad.mit.edu	37	1	247588768	247588768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:247588768C>T	ENST00000366497.2	+	4	2803	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	NLRP3_ENST00000348069.2_Missense_Mutation_p.R675W|NLRP3_ENST00000336119.3_Missense_Mutation_p.R675W|NLRP3_ENST00000391828.3_Missense_Mutation_p.R675W|NLRP3_ENST00000391827.2_Missense_Mutation_p.R675W|NLRP3_ENST00000366496.2_Missense_Mutation_p.R675W|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	675					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAACTGTCATCGGGTGGAGTC	0.502000													18	85					0	0	0.007413	0	0
KLK11	11012	broad.mit.edu	37	19	51527622	51527622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51527622G>A	ENST00000391804.3	-	4	262	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	KLK11_ENST00000319720.7_Intron|KLK11_ENST00000453757.3_Intron|KLK11_ENST00000594458.1_Intron|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594768.1_Intron			Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	98	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		ACATGGGTGGGAGAGGTGAGT	0.582000													20	47					0	0	0.007413	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642723	1642723	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1642723A>C	ENST00000399682.1	-	1	645	c.601T>G	c.(601-603)Tca>Gca	p.S201A		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	261	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCAGGATGACCCACAACCT	0.592000													90	219					0	0	0.014410	0	0
PPM1E	22843	broad.mit.edu	37	17	57033120	57033120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57033120G>A	ENST00000308249.2	+	2	704	c.575G>A	c.(574-576)gGg>gAg	p.G192E		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	201					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GGCACAGAAGGGACTGTGGGT	0.383000													33	77					0	0	0.013726	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057061	120057061	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:120057061C>T	ENST00000235547.6	+	4	1060	c.921C>T	c.(919-921)ctC>ctT	p.L307L	HSD3B1_ENST00000528909.1_Silent_p.L305L|HSD3B1_ENST00000369413.3_Silent_p.L305L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	305					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GCTTCCTACTCAGGCCAATTT	0.478000													130	139					0	0	0.014410	0	0
DBH	1621	broad.mit.edu	37	9	136507497	136507497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:136507497C>T	ENST00000393056.2	+	3	667	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	219					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGTCCAAGCTCCCAATATCCA	0.592000													13	52					0	0	0.003163	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713009	138713009	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:138713009G>A	ENST00000389532.4	-	11	3562	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	CAMSAP1_ENST00000312405.6_Silent_p.F888F|CAMSAP1_ENST00000409386.3_Silent_p.F1177F|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1166						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTAACTGTCGAAGAGACACT	0.567000													71	259					0	0	0.014410	0	0
PIK3R2	5296	broad.mit.edu	37	19	18274115	18274115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18274115C>T	ENST00000593731.1	+	11	1893	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	PIK3R2_ENST00000222254.7_Nonsense_Mutation_p.Q445*			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	445					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						AGTGGGCGCCCAGCTTAAGGT	0.572000													45	155					0	0	0.013114	0	0
TRAV17	28666	broad.mit.edu	37	14	22466152	22466152	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22466152C>T	ENST00000390445.2	+	0	229																											AGAAGAGGATCCTCAGGCCTT	0.418000													6	31					0	0	0.001168	0	0
SEC16B	89866	broad.mit.edu	37	1	177902403	177902403	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177902403G>A	ENST00000308284.6	-	22	2858	c.2769C>T	c.(2767-2769)acC>acT	p.T923T	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	923					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ATGCGTTCTTGGTGGGCTTCG	0.577000													7	16					0	0	0.003080	0	0
FAM47A	158724	broad.mit.edu	37	X	34148766	34148766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:34148766G>A	ENST00000346193.3	-	1	1681	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	544										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGCTCCGGGCGGAGACTGGAC	0.637000													50	62					0	0	0.014410	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286728	55286728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:55286728C>T	ENST00000336077.6	+	4	522	c.482C>T	c.(481-483)tCc>tTc	p.S161F	KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S161F|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	161	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TACCATCTATCCAGGGAAGGG	0.607000													77	146					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458723	25458723	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:25458723C>T	ENST00000424208.1	+	0	2680				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TCCTGGCCTCCTGCACTGAGC	0.562000													30	93					0	0	0.007291	0	0
ABCA7	10347	broad.mit.edu	37	19	1046382	1046382	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:1046382C>T	ENST00000263094.6	+	13	1830	c.1599C>T	c.(1597-1599)ccC>ccT	p.P533P	ABCA7_ENST00000435683.2_Silent_p.P395P|ABCA7_ENST00000433129.1_Silent_p.P533P|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	533					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGATGCCCTATCCGTGCT	0.706000													158	391					0	0	0.014410	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018253	161018253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161018253C>T	ENST00000368013.3	-	12	2878	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G676E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	853	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TAAATAGTACCCTCCAGCCCT	0.562000													104	209					0	0	0.014410	0	0
STIL	6491	broad.mit.edu	37	1	47716976	47716976	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:47716976G>A	ENST00000360380.3	-	18	4059	c.3696C>T	c.(3694-3696)acC>acT	p.T1232T	STIL_ENST00000243182.6_Silent_p.T1232T|STIL_ENST00000337817.5_Silent_p.T1232T|STIL_ENST00000396221.2_Silent_p.T1215T|STIL_ENST00000371877.3_Silent_p.T1233T			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1232					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGCTTTCCCGGTTCGAAGGT	0.403000													52	152					0	0	0.014410	0	0
ANO2	57101	broad.mit.edu	37	12	5853361	5853361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:5853361G>A	ENST00000327087.8	-	12	1372	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	ANO2_ENST00000546188.1_Missense_Mutation_p.P435L|ANO2_ENST00000356134.5_Missense_Mutation_p.P435L			Q9NQ90	ANO2_HUMAN	anoctamin 2	439						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GACGGTGGCAGGGTTGTCAAA	0.542000													19	66					0	0	0.007413	0	0
FREM1	158326	broad.mit.edu	37	9	14806713	14806713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:14806713C>T	ENST00000380881.4	-	19	4038	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	FREM1_ENST00000422223.2_Missense_Mutation_p.E1074K|FREM1_ENST00000380880.3_Missense_Mutation_p.E1074K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1074					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTATATTTTCGAGGTAGCCA	0.428000													6	22					0	0	0.001168	0	0
FMO2	2327	broad.mit.edu	37	1	171168502	171168502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171168502G>A	ENST00000441535.1	+	5	619	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G168S	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	168					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGGTTCAAAGGCCAATATTT	0.448000													39	88					0	0	0.008740	0	0
LRIG3	121227	broad.mit.edu	37	12	59268347	59268347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:59268347G>A	ENST00000320743.3	-	17	2990	c.2704C>T	c.(2704-2706)Cat>Tat	p.H902Y	LRIG3_ENST00000379141.4_Missense_Mutation_p.H842Y	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	902						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGTCAATATGGCAGGTCCCT	0.403000			T	ROS1	NSCLC								18	64					0	0	0.007413	0	0
LAMP5	24141	broad.mit.edu	37	20	9510442	9510442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9510442G>A	ENST00000246070.2	+	6	1310	c.818G>A	c.(817-819)aGa>aAa	p.R273K	LAMP5_ENST00000427562.2_Missense_Mutation_p.R229K	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	273						integral to membrane											CCTCGGGACAGATCCCAGTAT	0.527000													12	82					0	0	0.002450	0	0
IPO8	10526	broad.mit.edu	37	12	30790024	30790024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:30790024G>A	ENST00000256079.4	-	22	2925	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S	IPO8_ENST00000544829.1_Missense_Mutation_p.P658S	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	863					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGAATTGAGGGAACAATCTGT	0.448000													32	74					0	0	0.010818	0	0
PROM2	150696	broad.mit.edu	37	2	95954277	95954277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:95954277C>T	ENST00000317620.9	+	22	2514	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L	PROM2_ENST00000317668.4_Missense_Mutation_p.P794L|PROM2_ENST00000542147.1_Missense_Mutation_p.P745L|PROM2_ENST00000403131.2_Missense_Mutation_p.P794L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	794						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCCTGATCCCCAGCATCATC	0.607000													53	165					0	0	0.014410	0	0
DNAJC21	134218	broad.mit.edu	37	5	34950309	34950309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:34950309G>A	ENST00000382021.2	+	11	1582	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Missense_Mutation_p.G420E|DNAJC21_ENST00000342382.4_Missense_Mutation_p.G407E	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	407					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AATGGACCTGGAGAAGGAGTA	0.333000													48	117					0	0	0.014410	0	0
TRPM8	79054	broad.mit.edu	37	2	234869601	234869601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234869601C>T	ENST00000324695.4	+	12	1584	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	TRPM8_ENST00000433712.2_Missense_Mutation_p.S203F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	515						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCCAAGAATTCCTATAATGAT	0.498000													37	71					0	0	0.006999	0	0
PARP4	143	broad.mit.edu	37	13	25021321	25021321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25021321C>T	ENST00000381989.3	-	26	3223	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1040	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATTTGGTCTTCTATCTATTTA	0.418000													6	54					0	0	0.006214	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481214	95481214	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:95481214G>A	ENST00000432432.2	-	0	2146					NR_040113.1																						TTGTCTTACGGAACTTATCTT	0.323000													22	55					0	0	0.003330	0	0
SLC7A14	57709	broad.mit.edu	37	3	170219102	170219102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:170219102G>A	ENST00000231706.4	-	3	652	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	113						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTGGTCTTGGGGACTCGAACT	0.507000													28	51					0	0	0.008361	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958442	143958442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:143958442C>T	ENST00000292427.4	-	3	624	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	CYP11B1_ENST00000377675.3_Missense_Mutation_p.E269K|CYP11B1_ENST00000517471.1_Missense_Mutation_p.E198K	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	198					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCCACACCTTCTATGGTGTAG	0.652000									Familial Hyperaldosteronism type I				4	31					0	0	0.001168	0	0
DCLK3	85443	broad.mit.edu	37	3	36779265	36779265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:36779265C>T	ENST00000416516.2	-	2	1376	c.886G>A	c.(886-888)Gag>Aag	p.E296K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	296						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCTCTGCCTCCTTCTCTTCT	0.567000													142	196					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141110581	141110581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141110581G>A	ENST00000389484.3	-	76	12562	c.11591C>T	c.(11590-11592)tCa>tTa	p.S3864L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3864	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTTATATGATCCTTCCAC	0.343000										TSP Lung(27;0.18)			14	48					0	0	0.003163	0	0
SGMS1	259230	broad.mit.edu	37	10	52103296	52103296	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:52103296G>A	ENST00000361781.2	-	7	1538	c.579C>T	c.(577-579)atC>atT	p.I193I	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Silent_p.I193I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	199					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTCCTACAAGGATCATGCCAT	0.408000													21	40					0	0	0.014323	0	0
PCLO	27445	broad.mit.edu	37	7	82544594	82544594	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:82544594G>A	ENST00000423517.2	-	7	13045	c.12708C>T	c.(12706-12708)ctC>ctT	p.L4236L	PCLO_ENST00000333891.8_Silent_p.L4236L|PCLO_ENST00000437081.1_Silent_p.L956L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4167	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATCTTGAAGGAGCCTTGCCC	0.398000													12	26					0	0	0.001855	0	0
TXNL4B	54957	broad.mit.edu	37	16	72123027	72123027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:72123027G>A	ENST00000268483.3	-	3	464	c.143C>T	c.(142-144)aCc>aTc	p.T48I	TXNL4B_ENST00000426362.2_Missense_Mutation_p.T48I|TXNL4B_ENST00000423037.1_Missense_Mutation_p.T48I	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	48					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GTCAGAAGAGGTCTTAGAAAG	0.368000													34	57					0	0	0.013726	0	0
DNAH5	1767	broad.mit.edu	37	5	13759062	13759062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13759062G>A	ENST00000265104.4	-	61	10416	c.10312C>T	c.(10312-10314)Ctc>Ttc	p.L3438F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3438	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)					ATGGCCAGGAGATGGCGATTC	0.547000									Kartagener syndrome				51	110					0	0	0.014410	0	0
HABP2	3026	broad.mit.edu	37	10	115337790	115337790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:115337790C>T	ENST00000351270.3	+	6	550	c.454C>T	c.(454-456)Cct>Tct	p.P152S	HABP2_ENST00000537906.1_Silent_p.F140F|HABP2_ENST00000541666.1_Missense_Mutation_p.P152S|HABP2_ENST00000542051.1_Missense_Mutation_p.P126S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	152	EGF-like 3.				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)		CACAGTGGTTCCTGTATGCAG	0.557000													50	68					0	0	0.014410	0	0
ABCA13	154664	broad.mit.edu	37	7	48443435	48443435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:48443435C>T	ENST00000435803.1	+	39	12053	c.12029C>T	c.(12028-12030)tCc>tTc	p.S4010F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4010	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACCCTTGCTCCCGGCATAGC	0.557000													8	16					0	0	0.006214	0	0
SPEM1	374768	broad.mit.edu	37	17	7324589	7324589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7324589G>A	ENST00000323675.3	+	3	620	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	199					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		p.G199S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTCCGAGCTGGGCCTAAGGGC	0.637000													37	62					0	0	0.007835	0	0
CTNND2	1501	broad.mit.edu	37	5	11098815	11098815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:11098815C>T	ENST00000304623.8	-	15	2698	c.2509G>A	c.(2509-2511)Ggg>Agg	p.G837R	CTNND2_ENST00000458100.2_Missense_Mutation_p.G404R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G500R|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000511377.1_Missense_Mutation_p.G746R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	837					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCTGGATCCCTTTTGGTGGT	0.517000													25	69					0	0	0.004656	0	0
PAX8	7849	broad.mit.edu	37	2	114004339	114004339	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:114004339G>A	ENST00000429538.3	-	3	377	c.183C>T	c.(181-183)atC>atT	p.I61I	PAX8_ENST00000263334.5_Silent_p.I61I|PAX8_ENST00000348715.5_Silent_p.I61I|PAX8_ENST00000263335.7_Silent_p.I61I|PAX8_ENST00000397647.3_Silent_p.I61I|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000445745.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	61	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACCTGCCAAGGATCTTGCTGA	0.622000			T	PPARG	follicular thyroid		Thyroid dysgenesis						41	119					0	0	0.014410	0	0
OR52E6	390078	broad.mit.edu	37	11	5862892	5862892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5862892G>A	ENST00000329322.5	-	1	235	c.236C>T	c.(235-237)aCc>aTc	p.T79I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.T83I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	79					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)		TTTGGGAATGGTGGCCGTAGA	0.453000													27	65					0	0	0.005443	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509755	171509755	+	Silent	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171509755A>T	ENST00000367742.3	+	16	3392	c.3150A>T	c.(3148-3150)gtA>gtT	p.V1050V	PRRC2C_ENST00000338920.4_Silent_p.V1048V|PRRC2C_ENST00000426496.2_Silent_p.V1048V|PRRC2C_ENST00000392078.3_Silent_p.V1050V			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1048							protein C-terminus binding										AAGTAGTTGTAAAGCCTGAAA	0.463000													14	80					0	0	0.004007	0	0
SLC7A2	6542	broad.mit.edu	37	8	17407823	17407823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:17407823G>A	ENST00000470360.1	+	7	949	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SLC7A2_ENST00000494857.1_Missense_Mutation_p.E238K|SLC7A2_ENST00000004531.10_Missense_Mutation_p.E278K|SLC7A2_ENST00000398090.3_Missense_Mutation_p.E278K|SLC7A2_ENST00000522656.1_Missense_Mutation_p.E238K			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	238					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCACCTTCTGAAAACGGAAC	0.443000													13	51					0	0	0.003163	0	0
DGKK	139189	broad.mit.edu	37	X	50134468	50134468	+	RNA	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:50134468C>A	ENST00000376025.2	-	0	1870							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTGCTCCACTCTGTTGAGGAT	0.527000													54	69					7.50695e-29	7.69098e-29	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179613913	179613913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179613913G>A	ENST00000360870.5	-	46	13436	c.13214C>T	c.(13213-13215)tCa>tTa	p.S4405L	TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	535	Ig-like 24.						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)			TTCCTTTTCTGATCTACCAAG	0.338000													11	27					0	0	0.010729	0	0
KALRN	8997	broad.mit.edu	37	3	124153367	124153367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124153367G>A	ENST00000360013.3	+	17	3164	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	KALRN_ENST00000460856.1_Missense_Mutation_p.E1004K|KALRN_ENST00000240874.3_Missense_Mutation_p.E1013K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1013					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAACTTCTGAACAGGTGAG	0.517000													14	54					0	0	0.001855	0	0
RPTN	126638	broad.mit.edu	37	1	152127615	152127615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152127615C>T	ENST00000316073.3	-	3	2024	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	654	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTTGGCTATCCTCTTCAGGC	0.507000													44	123					0	0	0.010771	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56373427G>A	ENST00000301295.6	+	5	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_ENST00000346986.5_Silent_p.L696L|NLRP4_ENST00000587891.1_Silent_p.L621L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443000													41	47					0	0	0.007835	0	0
FAM3D	131177	broad.mit.edu	37	3	58639463	58639463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58639463C>T	ENST00000358781.2	-	3	369	c.59G>A	c.(58-60)tGg>tAg	p.W20*		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	20					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		AATAAACATCCATGTCGTGAC	0.567000													59	242					0	0	0.014410	0	0
SELP	6403	broad.mit.edu	37	1	169578884	169578884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169578884C>T	ENST00000263686.6	-	8	1228	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	SELP_ENST00000367786.2_Missense_Mutation_p.M335I|SELP_ENST00000458599.2_Missense_Mutation_p.M335I|SELP_ENST00000367792.2_Missense_Mutation_p.M335I|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.M335I|SELP_ENST00000367788.2_Missense_Mutation_p.M335I|SELP_ENST00000367793.2_Missense_Mutation_p.M335I	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	397	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GAGAGCAATCCATGCTTCCGT	0.507000													14	39					0	0	0.003163	0	0
CRMP1	1400	broad.mit.edu	37	4	5851179	5851179	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:5851179G>A	ENST00000324989.7	-	6	991	c.903C>T	c.(901-903)ttC>ttT	p.F301F	CRMP1_ENST00000397890.2_Silent_p.F187F|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.F185F	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	187					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GGCCCTTAAGGAAGGTAAAGG	0.433000													35	54					0	0	0.006230	0	0
PHEX	5251	broad.mit.edu	37	X	22129679	22129679	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:22129679G>A	ENST00000379374.4	+	10	1738		c.e10+1		PHEX_ENST00000535894.1_Splice_Site|PHEX_ENST00000537599.1_Splice_Site|PHEX_ENST00000418858.3_Splice_Site	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATTCTCAAGGGTAAGTTTAAG	0.383000													59	90					0	0	0.014410	0	0
OR5H1	26341	broad.mit.edu	37	3	97852004	97852004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:97852004C>T	ENST00000354565.2	+	1	463	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGGTATTCTTCATGCTTTAAT	0.373000													10	46					0	0	0.001855	0	0
PDE4C	5143	broad.mit.edu	37	19	18328995	18328995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18328995G>A	ENST00000355502.3	-	15	2165	c.1294C>T	c.(1294-1296)Cat>Tat	p.H432Y	PDE4C_ENST00000539010.1_Missense_Mutation_p.H201Y|PDE4C_ENST00000594617.2_Missense_Mutation_p.H432Y|PDE4C_ENST00000447275.2_Missense_Mutation_p.H326Y|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.H432Y|PDE4C_ENST00000262805.11_Missense_Mutation_p.H400Y			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	432					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.H432N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	ACCCCAGGATGGTCCACGTCG	0.597000													130	155					0	0	0.014410	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960860	143960860	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:143960860C>T	ENST00000377675.3	-	2	282	c.276G>A	c.(274-276)agG>agA	p.R92R	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GTGCTGCACTCCTTCCCCATC	0.642000									Familial Hyperaldosteronism type I				20	65					0	0	0.007413	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19169202	19169202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:19169202C>T	ENST00000446113.2	+	4	477	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ZDHHC13_ENST00000399351.3_5'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	119					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AATTCAACTCCTCTTCACTGG	0.348000													5	10					0	0	0.003080	0	0
ZNF516	9658	broad.mit.edu	37	18	74091181	74091181	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:74091181G>A	ENST00000443185.2	-	4	3206	c.2889C>T	c.(2887-2889)gcC>gcT	p.A963A	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TATTTGTGGGGGCAAAGCCAG	0.662000													35	63					0	0	0.006999	0	0
TACC3	10460	broad.mit.edu	37	4	1742580	1742580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:1742580C>T	ENST00000313288.4	+	13	2196	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	697						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGGAACTTTCCAAAGCTGAA	0.453000													33	122					0	0	0.013726	0	0
MARCH5	54708	broad.mit.edu	37	10	94109449	94109449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:94109449G>A	ENST00000358935.2	+	5	907	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	192					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CCTGTTCCTCGAATTCCAGCT	0.413000													154	202					0	0	0.014410	0	0
PMPCA	23203	broad.mit.edu	37	9	139310781	139310781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139310781G>A	ENST00000371717.3	+	6	580	c.571G>A	c.(571-573)Gag>Aag	p.E191K	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000371720.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E60K	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	191					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGTCCAGTTTGAGCTGGAGGA	0.542000													42	122					0	0	0.014410	0	0
ITPR1	3708	broad.mit.edu	37	3	4725190	4725190	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:4725190C>T	ENST00000302640.8	+	26	3587	c.3237C>T	c.(3235-3237)ttC>ttT	p.F1079F	ITPR1_ENST00000357086.4_Silent_p.F1085F|ITPR1_ENST00000456211.2_Silent_p.F1070F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.F1079F|ITPR1_ENST00000423119.2_Silent_p.F1085F|ITPR1_ENST00000354582.6_Silent_p.F1094F	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1094					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCTCCTCTTCCGGCACTTCA	0.592000													90	109					0	0	0.014410	0	0
LTBP1	4052	broad.mit.edu	37	2	33246227	33246227	+	Missense_Mutation	SNP	C	C	T	rs142311728		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:33246227C>T	ENST00000404816.2	+	3	1170	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	LTBP1_ENST00000354476.3_Missense_Mutation_p.L273F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	273					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACCTTAACCCTCAAGCCGAA	0.493000													45	113					0	0	0.014410	0	0
KIF4B	285643	broad.mit.edu	37	5	154395876	154395876	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:154395876G>A	ENST00000435029.4	+	1	2617	c.2457G>A	c.(2455-2457)caG>caA	p.Q819Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	819	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTACAAAACAGATTGAAAGCC	0.443000													19	31					0	0	0.007413	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297777	139297777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:139297777C>T	ENST00000406164.1	-	4	682	c.119G>A	c.(118-120)tGg>tAg	p.W40*	NMNAT3_ENST00000339837.5_Nonsense_Mutation_p.W40*|NMNAT3_ENST00000296202.7_Nonsense_Mutation_p.W77*|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_Nonsense_Mutation_p.W40*|NMNAT3_ENST00000406824.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000512391.1_Nonsense_Mutation_p.W77*			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	77					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CACCCGGATCCAGTCGGATGT	0.582000													15	72					0	0	0.007413	0	0
FAM181A	90050	broad.mit.edu	37	14	94395286	94395286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94395286C>T	ENST00000267594.5	+	3	1148	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	FAM181A_ENST00000557719.1_Missense_Mutation_p.H219Y|FAM181A_ENST00000557000.2_Missense_Mutation_p.H219Y|FAM181A_ENST00000556222.1_Missense_Mutation_p.H219Y	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	281										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTTCCAGTACCATGGACAGCC	0.647000													18	51					0	0	0.004990	0	0
SGSM1	129049	broad.mit.edu	37	22	25320226	25320226	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25320226G>A	ENST00000400358.4	+	25	3324	c.3267G>A	c.(3265-3267)ctG>ctA	p.L1089L	SGSM1_ENST00000400359.4_Silent_p.L1144L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1144						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGCAGACTCTGATTGAGAACA	0.572000													24	52					0	0	0.003330	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45945705	45945705	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:45945705G>A	ENST00000531526.1	+	4	480	c.368_splice	c.e4-1	p.R123_splice	GYLTL1B_ENST00000536139.1_Splice_Site_p.R92_splice|GYLTL1B_ENST00000401752.1_Splice_Site_p.R123_splice|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000325468.5_Splice_Site_p.R123_splice|GYLTL1B_ENST00000529052.1_Splice_Site_p.R92_splice	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	123					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACCCAAAAGGAAAAATCCAC	0.597000													30	133					0	0	0.010818	0	0
PER3	8863	broad.mit.edu	37	1	7890145	7890145	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:7890145C>T	ENST00000377532.3	+	18	3362	c.3138C>T	c.(3136-3138)tcC>tcT	p.S1046S	PER3_ENST00000361923.2_Silent_p.S1037S			P56645	PER3_HUMAN	period circadian clock 3	1037	Ser-rich.				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)		GGACTCCATCCCATCCTACTG	0.567000													40	102					0	0	0.006999	0	0
NEB	4703	broad.mit.edu	37	2	152506743	152506743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:152506743G>A	ENST00000397345.3	-	54	7580	c.7378C>T	c.(7378-7380)Cct>Tct	p.P2460S	NEB_ENST00000172853.10_Missense_Mutation_p.P2460S|NEB_ENST00000427231.2_Missense_Mutation_p.P2460S|NEB_ENST00000604864.1_Missense_Mutation_p.P2460S|NEB_ENST00000603639.1_Missense_Mutation_p.P2460S|NEB_ENST00000409198.1_Missense_Mutation_p.P2460S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2460					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGGCATCAGGAATGCTGGTG	0.428000													20	42					0	0	0.014323	0	0
IDO2	169355	broad.mit.edu	37	8	39806702	39806702	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:39806702G>A	ENST00000502986.2	+	2	299	c.57G>A	c.(55-57)ccG>ccA	p.P19P	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.P6P|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	6					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCCACAGACCGAATGTGAAGA	0.408000													8	11					0	0	0.006214	0	0
EDEM1	9695	broad.mit.edu	37	3	5249907	5249907	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:5249907C>T	ENST00000256497.4	+	8	1601	c.1468C>T	c.(1468-1470)Ctg>Ttg	p.L490L	EDEM1_ENST00000445686.1_Silent_p.L295L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	490					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CTTCTACCCACTGAGACCAGA	0.488000													40	158					0	0	0.006230	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122421	153122421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153122421G>A	ENST00000368748.4	-	2	204	c.166C>T	c.(166-168)Cct>Tct	p.P56S		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	56					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCACAGGAGGGCATTTATCC	0.547000													41	92					0	0	0.008740	0	0
COLEC10	10584	broad.mit.edu	37	8	120118157	120118157	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:120118157G>A	ENST00000332843.2	+	6	602	c.561G>A	c.(559-561)aaG>aaA	p.K187K		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	187	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CCATGCCCAAGGATGAAGCTG	0.493000													10	32					0	0	0.006214	0	0
TIE1	7075	broad.mit.edu	37	1	43778085	43778085	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:43778085C>T	ENST00000372476.3	+	12	1819	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	TIE1_ENST00000433781.2_Silent_p.F225F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	580	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGACGGTTTCCTGCTGCGCC	0.701000													34	79					0	0	0.004289	0	0
PCED1B	91523	broad.mit.edu	37	12	47629093	47629093	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:47629093C>G	ENST00000546455.1	+	4	978	c.247C>G	c.(247-249)Cgc>Ggc	p.R83G	PCED1B_ENST00000432328.1_Missense_Mutation_p.R83G					PC-esterase domain containing 1B																		CCGCGAGTTCCGCTCCGACCA	0.597000													45	154					0	0	0.013114	0	0
A1CF	29974	broad.mit.edu	37	10	52573735	52573735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:52573735C>T	ENST00000395489.2	-	12	1604	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	A1CF_ENST00000373997.3_Missense_Mutation_p.G402E|A1CF_ENST00000373995.3_Missense_Mutation_p.G410E|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.G355E|A1CF_ENST00000282641.2_Missense_Mutation_p.G410E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.G410E|A1CF_ENST00000374001.1_Missense_Mutation_p.G402E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	410	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GACCTGGTATCCTCGACCCAG	0.493000													25	35					0	0	0.003330	0	0
PSG4	5672	broad.mit.edu	37	19	43709640	43709640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:43709640C>T	ENST00000405312.3	-	1	286	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG4_ENST00000433626.2_Missense_Mutation_p.G17R|PSG4_ENST00000244295.9_Missense_Mutation_p.G17R	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	17					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGCAGGACCCCCTTCCAGGTG	0.587000													39	46					0	0	0.014410	0	0
HLA-C	3107	broad.mit.edu	37	6	31239616	31239616	+	Missense_Mutation	SNP	C	C	A	rs150810080	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31239616C>A	ENST00000383329.3	-	2	117	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S	HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	35	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGGGACACGGCGGTGTCGAAA	0.721000													5	80					0.000602214	0.000610408	0.000602	1	0
SREBF1	6720	broad.mit.edu	37	17	17719285	17719285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:17719285G>A	ENST00000355815.4	-	13	2531	c.2362C>T	c.(2362-2364)Cct>Tct	p.P788S	SREBF1_ENST00000261646.5_Missense_Mutation_p.P758S|SREBF1_ENST00000338854.5_Missense_Mutation_p.P758S|SREBF1_ENST00000395757.1_Missense_Mutation_p.P504S	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	758					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCATGGCAGGAGGCACTGAG	0.647000													35	53					0	0	0.004289	0	0
PTPRC	5788	broad.mit.edu	37	1	198701611	198701611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:198701611G>A	ENST00000367376.2	+	20	2233	c.2062G>A	c.(2062-2064)Gat>Aat	p.D688N	PTPRC_ENST00000348564.6_Missense_Mutation_p.D529N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D640N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D527N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D690N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	688	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAAACAGATGATTATAACCG	0.318000													4	10					0	0	0.009096	0	0
KRT3	3850	broad.mit.edu	37	12	53189737	53189737	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53189737G>A	ENST00000417996.2	-	1	164	c.90C>T	c.(88-90)agC>agT	p.S30S	KRT3_ENST00000309505.3_Silent_p.S30S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	30	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GGGCCACACAGCTCATCCTGC	0.647000													38	100					0	0	0.003755	0	0
F5	2153	broad.mit.edu	37	1	169519046	169519046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169519046C>T	ENST00000367796.3	-	10	1805	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Missense_Mutation_p.G535E			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	535	F5/8 type A 2.	Cleavage; by activated protein C.			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)	TACCTGTATTCCTTGCCTGTC	0.433000													19	45					0	0	0.007413	0	0
SORL1	6653	broad.mit.edu	37	11	121414296	121414296	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:121414296C>T	ENST00000260197.7	+	13	1854	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	575					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAACATTCATCTTCTCTGAGA	0.463000													46	66					0	0	0.013114	0	0
OR6C3	254786	broad.mit.edu	37	12	55725661	55725661	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55725661C>T	ENST00000379667.1	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTATTTCTTCCTCCGGAACT	0.383000													37	127					0	0	0.007835	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778764	14778764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:14778764C>T	ENST00000261170.3	-	21	2471	c.2335G>A	c.(2335-2337)Gta>Ata	p.V779I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	779					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTTTCCTCTACCAGATGTTCC	0.438000													42	95					0	0	0.013114	0	0
MYO18B	84700	broad.mit.edu	37	22	26348303	26348303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:26348303C>T	ENST00000335473.7	+	38	6134	c.5884C>T	c.(5884-5886)Cga>Tga	p.R1962*	MYO18B_ENST00000407587.2_Nonsense_Mutation_p.R1963*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.R1962*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1962	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCGTGGATCGAGCCATCGT	0.507000													8	21					0	0	0.003080	0	0
MARC1	64757	broad.mit.edu	37	1	220964850	220964850	+	Missense_Mutation	SNP	A	A	G	rs149405266		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:220964850A>G	ENST00000366910.5	+	2	479	c.293A>G	c.(292-294)aAc>aGc	p.N98S		NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	98							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CTTGTGATCAACCAGGAGGGA	0.517000													21	78					0	0	0.002780	0	0
INADL	10207	broad.mit.edu	37	1	62330129	62330129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62330129G>A	ENST00000371158.2	+	20	2773	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	INADL_ENST00000316485.6_Missense_Mutation_p.E887K	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	887					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACCATCCATGGAGTTGTATCC	0.423000													44	111					0	0	0.011902	0	0
EXOC4	60412	broad.mit.edu	37	7	133160140	133160140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:133160140C>T	ENST00000253861.4	+	8	1270	c.1241C>T	c.(1240-1242)gCt>gTt	p.A414V	EXOC4_ENST00000393161.2_Missense_Mutation_p.A414V|EXOC4_ENST00000539845.1_Missense_Mutation_p.A313V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	414					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GAACCATCAGCTCAACTAAGC	0.368000													37	117					0	0	0.006999	0	0
PTPRJ	5795	broad.mit.edu	37	11	48185152	48185152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48185152C>T	ENST00000418331.2	+	23	4053	c.3701C>T	c.(3700-3702)cCg>cTg	p.P1234L		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1234	Tyrosine-protein phosphatase.			P -> E (in Ref. 5; no nucleotide entry).	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCGAATCGCCGATTCTGGTG	0.493000													12	49					0	0	0.013537	0	0
GTF3C1	2975	broad.mit.edu	37	16	27483215	27483215	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:27483215C>T	ENST00000356183.4	-	30	4395	c.4380G>A	c.(4378-4380)aaG>aaA	p.K1460K	GTF3C1_ENST00000561623.1_Silent_p.K1460K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1460						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAACGTGGTCCTTGTACTCCC	0.632000													30	54					0	0	0.013726	0	0
COL27A1	85301	broad.mit.edu	37	9	117063353	117063353	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117063353G>A	ENST00000356083.3	+	52	5094	c.4701_splice	c.e52-1	p.G1568_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1568	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCCTTTAGGGAAAGGAAGGC	0.632000													29	96					0	0	0.010818	0	0
PKN2	5586	broad.mit.edu	37	1	89237436	89237436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:89237436C>T	ENST00000370521.3	+	6	1218	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	PKN2_ENST00000370513.5_Missense_Mutation_p.P287S|PKN2_ENST00000370505.3_Missense_Mutation_p.P130S|PKN2_ENST00000316005.7_Missense_Mutation_p.P287S	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	287					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAAGAATCATCCCAAAAGCAG	0.368000													36	166					0	0	0.006230	0	0
CDH18	1016	broad.mit.edu	37	5	19591224	19591224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:19591224C>T	ENST00000507958.1	-	9	1931	c.941G>A	c.(940-942)gGa>gAa	p.G314E	CDH18_ENST00000382275.1_Missense_Mutation_p.G314E|CDH18_ENST00000502796.1_Missense_Mutation_p.G314E|CDH18_ENST00000506372.1_Missense_Mutation_p.G314E|CDH18_ENST00000274170.4_Missense_Mutation_p.G314E|CDH18_ENST00000511273.1_Missense_Mutation_p.G314E			Q13634	CAD18_HUMAN	cadherin 18, type 2	314	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGAATATTCCCATGCCATC	0.408000													22	52					0	0	0.014323	0	0
CCDC60	160777	broad.mit.edu	37	12	119942974	119942974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:119942974C>T	ENST00000327554.2	+	7	1214	c.749C>T	c.(748-750)cCc>cTc	p.P250L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	250										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGTCCTCTCCCCAGAGCAGC	0.562000													51	132					0	0	0.014410	0	0
MOV10L1	54456	broad.mit.edu	37	22	50589166	50589166	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:50589166C>T	ENST00000262794.5	+	21	2813	c.2730C>T	c.(2728-2730)atC>atT	p.I910I	MOV10L1_ENST00000395858.3_Silent_p.I910I|MOV10L1_ENST00000540615.1_Silent_p.I890I|MOV10L1_ENST00000545383.1_Silent_p.I910I|MOV10L1_ENST00000354853.2_Intron|MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000395852.1_Silent_p.I37I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	910					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.I910I(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTGCAGATCGTGCTGGCAG	0.622000													20	33					0	0	0.010504	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101188	16101188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:16101188C>T	ENST00000375766.3	+	7	1427	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	FBLIM1_ENST00000332305.5_Missense_Mutation_p.H166Y|FBLIM1_ENST00000375771.1_Missense_Mutation_p.H263Y|FBLIM1_ENST00000400773.1_Missense_Mutation_p.H166Y|FBLIM1_ENST00000441801.2_Missense_Mutation_p.H263Y	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	263	LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCAGGCCTTCCACCCCTCCTG	0.632000													78	169					0	0	0.014410	0	0
NT5C2	22978	broad.mit.edu	37	10	104899169	104899169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:104899169G>A	ENST00000343289.5	-	3	256	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	NT5C2_ENST00000404739.3_Missense_Mutation_p.L57F|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000470299.1_Intron|NT5C2_ENST00000423468.2_Missense_Mutation_p.L28F	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	57					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TCACCAGCAAGGGTATAATCC	0.343000													3	6					0	0	0.004672	0	0
SRRM2	23524	broad.mit.edu	37	16	2813884	2813884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:2813884G>A	ENST00000301740.8	+	11	3904	c.3355G>A	c.(3355-3357)Ggt>Agt	p.G1119S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1119	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACAAGATAGAGGTGAGTTCTC	0.478000													73	137					0	0	0.014410	0	0
ASB15	142685	broad.mit.edu	37	7	123277008	123277008	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:123277008C>T	ENST00000451558.1	+	14	2261	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L	ASB15_ENST00000275699.3_Silent_p.L580L|ASB15_ENST00000434204.1_Silent_p.L580L|ASB15_ENST00000451215.1_Silent_p.L580L|ASB15_ENST00000540573.1_Silent_p.L580L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	580					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGTATGATCTCTATGGACAAG	0.343000													26	73					0	0	0.004656	0	0
BAGE2	85319	broad.mit.edu	37	21	11039138	11039138	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:11039138G>A	ENST00000470054.1	-	0	1065									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATAATGAAGTGCTTTC	0.403000													14	335					0	0	0.003163	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599283	136599283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:136599283G>A	ENST00000531224.1	-	4	988	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	BCLAF1_ENST00000527759.1_Missense_Mutation_p.P244S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P244S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P246S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P246S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P244S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	246					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGAGCATGGGAGCATCAGAG	0.453000													8	79					0	0	0.003080	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309050	75309050	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75309050T>G	ENST00000361900.6	+	5	460	c.253T>G	c.(253-255)Tcc>Gcc	p.S85A	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000562212.1_Missense_Mutation_p.S85A|SCAMP5_ENST00000425597.3_Missense_Mutation_p.S85A	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	85					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CACACCCTGCTCCTACGTCTG	0.602000													41	138					0	0	0.014410	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818995	200818995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200818995C>T	ENST00000358823.2	+	11	3368	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.S1044F|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S1017F	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1044						cytoplasm|microtubule	protein binding										TTAAAGGAATCCAAACCTAAA	0.403000													30	114					0	0	0.010818	0	0
SSFA2	6744	broad.mit.edu	37	2	182765545	182765545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:182765545C>T	ENST00000431877.2	+	7	805	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SSFA2_ENST00000428267.2_Missense_Mutation_p.S56F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S209F|SSFA2_ENST00000320370.7_Missense_Mutation_p.S209F	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	209						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AATTCATCATCCTTTGCCAAA	0.323000													17	39					0	0	0.006122	0	0
CASQ1	844	broad.mit.edu	37	1	160168515	160168515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160168515G>A	ENST00000368079.3	+	8	1134	c.859G>A	c.(859-861)Gat>Aat	p.D287N	CASQ1_ENST00000467691.1_Missense_Mutation_p.D14N|CASQ1_ENST00000368078.3_Missense_Mutation_p.D293N	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	293						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGGAAGCTGATCCTGGTGA	0.537000													70	137					0	0	0.014410	0	0
ARSA	410	broad.mit.edu	37	22	51063591	51063591	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:51063591G>A	ENST00000547307.1	-	8	1911	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	ARSA_ENST00000453344.2_Silent_p.C418C|ARSA_ENST00000547805.1_Silent_p.C502C|ARSA_ENST00000395621.3_Silent_p.C504C|ARSA_ENST00000395619.3_Silent_p.C504C|ARSA_ENST00000356098.5_Silent_p.C504C|ARSA_ENST00000216124.5_Silent_p.C504C			P15289	ARSA_HUMAN	arylsulfatase A	502						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GGGGATCTGGGCAATGGCAGC	0.692000													12	20					0	0	0.013537	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182649	140182649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140182649C>T	ENST00000522353.2	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R623C|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTTCGCGTGGGGCT	0.662000													48	74					0	0	0.014410	0	0
COL9A3	1299	broad.mit.edu	37	20	61467656	61467656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:61467656C>T	ENST00000343916.3	+	28	1522	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	507	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCCGGGTGTTCCTGGCATCAC	0.637000													35	95					0	0	0.008740	0	0
ASXL3	80816	broad.mit.edu	37	18	31319566	31319566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:31319566C>T	ENST00000269197.5	+	11	2198	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	733	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCAGTGTCTTCCATGCTTCTC	0.403000													143	175					0	0	0.014410	0	0
OGFOD3	79701	broad.mit.edu	37	17	80350308	80350308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80350308G>A	ENST00000313056.5	-	9	1077	c.926C>T	c.(925-927)cCc>cTc	p.P309L	OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		GCCATGGTCGGGGTTGCAGCT	0.662000													10	35					0	0	0.013537	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681805	69681805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69681805G>A	ENST00000265403.7	+	1	95	c.68G>A	c.(67-69)gGa>gAa	p.G23E	UGT2B10_ENST00000458688.2_Missense_Mutation_p.G23E	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	23					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGGAGTTGTGGAAAGGTGCTG	0.438000													17	68					0	0	0.006122	0	0
KALRN	8997	broad.mit.edu	37	3	124376396	124376396	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124376396G>T	ENST00000360013.3	+	40	6088	c.5961G>T	c.(5959-5961)aaG>aaT	p.K1987N	KALRN_ENST00000393496.1_Missense_Mutation_p.K328N|KALRN_ENST00000291478.4_Missense_Mutation_p.K290N|KALRN_ENST00000459915.1_Missense_Mutation_p.K79N|KALRN_ENST00000428018.2_Missense_Mutation_p.K258N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1986	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACTGGCATAAGGAGTAAGTGT	0.468000													40	70					2.2871e-25	2.34246e-25	0.007835	1	0
CD4	920	broad.mit.edu	37	12	6923361	6923361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6923361G>A	ENST00000011653.4	+	4	526	c.268G>A	c.(268-270)Gga>Aga	p.G90R	CD4_ENST00000541982.1_Missense_Mutation_p.G35R|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	90	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TTGGGACCAAGGAAACTTTCC	0.498000													42	157					0	0	0.011902	0	0
THBS1	7057	broad.mit.edu	37	15	39881440	39881440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:39881440G>A	ENST00000260356.5	+	12	1976	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	604	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AACCACAATGGAGAGCACCGG	0.572000													86	181					0	0	0.014410	0	0
EPHB1	2047	broad.mit.edu	37	3	134920399	134920399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:134920399G>A	ENST00000398015.3	+	12	2584	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M299I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	738	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGCTGAGATGAATTATGTGC	0.527000													103	155					0	0	0.014410	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963843	73963843	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:73963843C>T	ENST00000373468.1	-	3	1200	c.549G>A	c.(547-549)ggG>ggA	p.G183G	KIAA2022_ENST00000055682.5_Silent_p.G183G			Q5QGS0	K2022_HUMAN	KIAA2022	183					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.G183G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TACACTGAATCCCTATATCAG	0.458000													21	33					0	0	0.008871	0	0
MYH7B	57644	broad.mit.edu	37	20	33567524	33567524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:33567524G>A	ENST00000262873.7	+	5	477	c.385G>A	c.(385-387)Gag>Aag	p.E129K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	87	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACTTACTGGAGGACATGGC	0.647000													45	96					0	0	0.011902	0	0
SVEP1	79987	broad.mit.edu	37	9	113241922	113241922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113241922C>T	ENST00000401783.2	-	13	2816	c.2480G>A	c.(2479-2481)gGa>gAa	p.G827E	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G827E|SVEP1_ENST00000374461.1_Missense_Mutation_p.G804E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G804E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	827					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TACCATTTTTCCCAGGGTCGT	0.388000													69	187					0	0	0.014410	0	0
COL5A3	50509	broad.mit.edu	37	19	10114821	10114821	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10114821C>T	ENST00000264828.3	-	5	680	c.594_splice	c.e5-1	p.G199_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	199	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGAATGTCTCCCTGGGGGTTG	0.622000													26	80					0	0	0.004656	0	0
GMPPA	29926	broad.mit.edu	37	2	220370372	220370372	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220370372C>T	ENST00000373917.3	+	9	1019	c.948C>T	c.(946-948)tcC>tcT	p.S316S	GMPPA_ENST00000358215.3_Intron|GMPPA_ENST00000313597.5_Intron|GMPPA_ENST00000341142.3_Intron|GMPPA_ENST00000373908.1_Intron|AC053503.11_ENST00000429882.1_RNA			Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	285					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCTCAATCCCTGCCCCTTC	0.562000													7	31					0	0	0.003080	0	0
PRDM9	56979	broad.mit.edu	37	5	23509152	23509152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:23509152G>A	ENST00000296682.3	+	2	192	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	4					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CATGAGCCCTGAAAAGTCCCA	0.572000										HNSCC(3;0.000094)			16	59					0	0	0.006122	0	0
NAV3	89795	broad.mit.edu	37	12	78598733	78598733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:78598733C>T	ENST00000397909.2	+	39	7026	c.6853C>T	c.(6853-6855)Cca>Tca	p.P2285S	NAV3_ENST00000266692.7_Missense_Mutation_p.P2086S|NAV3_ENST00000536525.2_Missense_Mutation_p.P2263S|NAV3_ENST00000228327.6_Missense_Mutation_p.P2263S|NAV3_ENST00000541270.1_Missense_Mutation_p.P115S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2285						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAACGCACACCATGGGAAGA	0.453000										HNSCC(70;0.22)			4	26					0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13900318	13900318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13900318C>T	ENST00000265104.4	-	15	2360	c.2256G>A	c.(2254-2256)atG>atA	p.M752I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	752	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)					AGTATACCTTCATGTTACTGA	0.413000									Kartagener syndrome				26	47					0	0	0.003954	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632278	156632278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:156632278G>A	ENST00000296518.7	+	6	1170	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E321K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E321K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E321K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.E63K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E321K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E321K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	321					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCCTAATTTTGAAGAATACTT	0.383000													18	53					0	0	0.007413	0	0
EFCAB6	64800	broad.mit.edu	37	22	44063083	44063083	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44063083G>A	ENST00000262726.7	-	17	2137	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	EFCAB6_ENST00000396231.2_Silent_p.F476F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TACACTTTTTGAATTTTTCAA	0.413000													83	211					0	0	0.014410	0	0
RBM46	166863	broad.mit.edu	37	4	155718046	155718046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155718046C>T	ENST00000510397.1	+	2	321	c.142C>T	c.(142-144)Cct>Tct	p.P48S	RBM46_ENST00000514866.1_Missense_Mutation_p.P48S|RBM46_ENST00000281722.3_Missense_Mutation_p.P48S	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	48							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATTTGGCGGTCCTCCTCCAGG	0.383000													10	44					0	0	0.008291	0	0
GRM6	2916	broad.mit.edu	37	5	178413173	178413173	+	Silent	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:178413173G>T	ENST00000231188.5	-	8	2260	c.2082C>A	c.(2080-2082)ccC>ccA	p.P694P	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.P694P	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	694					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)		GCTGTGAGGTGGGGCTGATGA	0.627000													12	21					2.32078e-09	2.36214e-09	0.003163	1	0
FRK	2444	broad.mit.edu	37	6	116325090	116325090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:116325090G>A	ENST00000606080.1	-	2	862	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	139	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GATTAGAAAGGAACCGGTCTT	0.368000													8	16					0	0	0.004482	0	0
PIK3CB	5291	broad.mit.edu	37	3	138453618	138453618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138453618G>A	ENST00000477593.1	-	6	903	c.830C>T	c.(829-831)gCc>gTc	p.A277V	PIK3CB_ENST00000289153.2_Missense_Mutation_p.A277V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	277	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATGGGGCAGGGCTCTGTTCAT	0.383000													53	235					0	0	0.014410	0	0
KCTD19	146212	broad.mit.edu	37	16	67323518	67323518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67323518C>T	ENST00000304372.5	-	16	2790	c.2735G>A	c.(2734-2736)aGg>aAg	p.R912K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	912						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGAGACAGACCTAGACAGGCC	0.537000													40	87					0	0	0.009718	0	0
FOXN1	8456	broad.mit.edu	37	17	26864160	26864160	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:26864160T>G	ENST00000226247.2	+	8	1682	c.1653T>G	c.(1651-1653)gaT>gaG	p.D551E	FOXN1_ENST00000579795.1_Missense_Mutation_p.D551E	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	551					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGTTGAAGGATGATAGCTTGG	0.612000													43	131					0	0	0.014410	0	0
GOT1L1	137362	broad.mit.edu	37	8	37791993	37791993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:37791993C>T	ENST00000307599.4	-	9	1183	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	362					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ACCAGGTATTCCACCTGCTGG	0.423000													80	169					0	0	0.014410	0	0
CARD6	84674	broad.mit.edu	37	5	40853616	40853616	+	Silent	SNP	C	C	T	rs139253407	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40853616C>T	ENST00000254691.5	+	3	2381	c.2182C>T	c.(2182-2184)Cta>Tta	p.L728L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	728					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGGCCTGTTCTAGAGAACTC	0.488000													124	316					0	0	0.014410	0	0
SHB	6461	broad.mit.edu	37	9	37919851	37919851	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:37919851G>A	ENST00000377707.3	-	6	2062	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	499	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GATAGAGGAGGGACAAGTGCT	0.597000													27	114					0	0	0.006320	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30165443	30165443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:30165443C>T	ENST00000436066.3	+	2	1163	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	PLEKHF1_ENST00000592810.1_Missense_Mutation_p.H233Y	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	233					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GCAGCCAGCCCACCTGGCCCG	0.726000													5	7					0	0	0.001168	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969394	140969394	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:140969394C>T	ENST00000298296.1	+	4	721	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	241	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCATTTCCCTGACAGAAGT	0.478000													81	102					0	0	0.014410	0	0
OR2L2	26246	broad.mit.edu	37	1	248201816	248201816	+	Missense_Mutation	SNP	G	G	A	rs142994715		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248201816G>A	ENST00000366479.2	+	1	343	c.247G>A	c.(247-249)Gat>Aat	p.D83N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D83N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAtggtttatgattttctgta	0.418000													95	285					0	0	0.014410	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111506	142111506	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142111506C>T	ENST00000390378.1	-	0	229																											AGGGAAGTTTCCTCTTCCTCT	0.507000													38	71					0	0	0.004878	0	0
ANO4	121601	broad.mit.edu	37	12	101430900	101430900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:101430900C>T	ENST00000392979.3	+	9	1125	c.764C>T	c.(763-765)tCc>tTc	p.S255F	ANO4_ENST00000392977.3_Missense_Mutation_p.S290F|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	290						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACCAATGGCTCCTATGAAGCT	0.348000										HNSCC(74;0.22)			41	134					0	0	0.014410	0	0
APOL5	80831	broad.mit.edu	37	22	36123097	36123097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:36123097G>A	ENST00000249044.2	+	3	982	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	328					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GACAGCAGAGGAACTGAGAGC	0.607000													29	85					0	0	0.008361	0	0
MIR541	100126308	broad.mit.edu	37	14	101530900	101530900	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101530900C>T	ENST00000401360.1	+	0	69					NR_030594.1																						GGCACAGAATCTGGACTCTGC	0.592000													31	87					0	0	0.003271	0	0
KRT6C	286887	broad.mit.edu	37	12	52863587	52863587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52863587C>T	ENST00000252250.6	-	7	1338	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	431	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGGGCATCCTCCAGCCCTTCC	0.597000													40	91					0	0	0.009718	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110471946	110471946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110471946G>A	ENST00000378402.5	+	47	7231	c.7127G>A	c.(7126-7128)gGa>gAa	p.G2376E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2376					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCCTGATGGAACTCTGTTT	0.363000										HNSCC(38;0.096)			7	10					0	0	0.006214	0	0
ABCB10	23456	broad.mit.edu	37	1	229685161	229685161	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:229685161T>A	ENST00000344517.4	-	2	580	c.538A>T	c.(538-540)Atg>Ttg	p.M180L		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	180	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ACACTGGACATCGTGAGAAAT	0.522000													28	30					0	0	0.006320	0	0
DAB1	1600	broad.mit.edu	37	1	57602291	57602291	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57602291G>A	ENST00000371236.2	-	4	494	c.231C>T	c.(229-231)tcC>tcT	p.S77S	DAB1_ENST00000371230.1_Silent_p.S77S|DAB1_ENST00000420954.2_Silent_p.S77S|DAB1_ENST00000371231.1_Silent_p.S77S|DAB1_ENST00000439789.2_Silent_p.S77S|DAB1_ENST00000414851.2_Silent_p.S77S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.S77S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	77	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTTCTCCTTTGGAACGAGCGC	0.398000													7	25					0	0	0.001984	0	0
IRX6	79190	broad.mit.edu	37	16	55361597	55361597	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:55361597C>T	ENST00000290552.7	+	4	1845	c.513C>T	c.(511-513)aaC>aaT	p.N171N	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ACCGCAAAAACCCCTACCCCA	0.612000													13	98					0	0	0.001855	0	0
ZEB1	6935	broad.mit.edu	37	10	31815672	31815672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:31815672G>A	ENST00000446923.2	+	9	3198	c.2807G>A	c.(2806-2808)cGa>cAa	p.R936Q	ZEB1_ENST00000320985.10_Missense_Mutation_p.R952Q|ZEB1_ENST00000542815.3_Missense_Mutation_p.R885Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.R932Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.R953Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	952					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	p.R952Q(1)		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)				GAACACATGCGATTACATTCT	0.368000													16	24					0	0	0.004990	0	0
PHTF2	57157	broad.mit.edu	37	7	77583174	77583174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:77583174C>T	ENST00000416283.2	+	17	2324	c.2198C>T	c.(2197-2199)tCt>tTt	p.S733F	PHTF2_ENST00000422959.2_Missense_Mutation_p.S733F|PHTF2_ENST00000275575.7_Missense_Mutation_p.S677F|PHTF2_ENST00000307305.8_Missense_Mutation_p.S729F|PHTF2_ENST00000248550.7_Missense_Mutation_p.S767F	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCAGCTGTTTCTGGTGTTATC	0.383000													29	44					0	0	0.006320	0	0
DNAH11	8701	broad.mit.edu	37	7	21778471	21778471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:21778471G>A	ENST00000328843.6	+	48	7850	c.7819G>A	c.(7819-7821)Gat>Aat	p.D2607N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D2600N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2607	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCAGCATATTGATTATGGACA	0.338000									Kartagener syndrome				5	6					0	0	0.003080	0	0
ACD	65057	broad.mit.edu	37	16	67694231	67694231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67694231G>A	ENST00000219251.8	-	1	482	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ACD_ENST00000393919.4_Missense_Mutation_p.L51F	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCGGAGGAGGAGGCCCCGC	0.741000													21	26					0	0	0.010504	0	0
UTP14A	10813	broad.mit.edu	37	X	129053176	129053176	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:129053176T>G	ENST00000394422.3	+	7	591	c.563T>G	c.(562-564)aTt>aGt	p.I188S	UTP14A_ENST00000425117.2_Missense_Mutation_p.I136S|UTP14A_ENST00000371042.3_Missense_Mutation_p.I20S|UTP14A_ENST00000371051.5_Missense_Mutation_p.I134S|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	188					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GAGCAGGAAATTTTCAACCTC	0.458000													80	136					0	0	0.014410	0	0
C4orf50	389197	broad.mit.edu	37	4	5975479	5975479	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:5975479C>T	ENST00000531445.1	-	4	1783	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	C4orf50_ENST00000324058.5_Silent_p.G105G			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	105										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GCAGGAGGTTCCCCAGCCCAT	0.627000													45	91					0	0	0.011902	0	0
NKD1	85407	broad.mit.edu	37	16	50667135	50667135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:50667135C>T	ENST00000268459.3	+	10	1080	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTCAGAACTGCCCCCCCGCAC	0.597000													23	115					0	0	0.012319	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520991	33520991	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:33520991G>A	ENST00000297307.5	-	1	421	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	112	DUF6 1.					integral to membrane											CAATGCTGAGGATGTTGAGCA	0.597000													125	273					0	0	0.014410	0	0
CC2D2A	57545	broad.mit.edu	37	4	15529154	15529154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:15529154G>A	ENST00000424120.1	+	12	1488	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	CC2D2A_ENST00000389652.5_Missense_Mutation_p.G363R|CC2D2A_ENST00000413206.1_Missense_Mutation_p.G412R|CC2D2A_ENST00000503292.1_Missense_Mutation_p.G412R|CC2D2A_ENST00000513811.1_3'UTR			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	412					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGATATTTCAGGGTTAATCTT	0.458000													14	22					0	0	0.003163	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683824	69683824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69683824C>T	ENST00000265403.7	+	2	823	c.796C>T	c.(796-798)Cct>Tct	p.P266S	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P182S	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	266					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTTAAATTTCCTCATCCATT	0.383000													27	66					0	0	0.005443	0	0
MYH1	4619	broad.mit.edu	37	17	10408518	10408518	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10408518G>A	ENST00000226207.5	-	21	2491	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	799	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCTTGCCAAGAACCCTCTGC	0.443000													32	51					0	0	0.013726	0	0
CXCL13	10563	broad.mit.edu	37	4	78528937	78528937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:78528937G>A	ENST00000286758.4	+	3	223	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	49					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						ACGCTTCATTGATCGAATTCA	0.388000													34	81					0	0	0.003271	0	0
ENOX2	10495	broad.mit.edu	37	X	129813720	129813720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:129813720G>A	ENST00000338144.3	-	7	760	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Missense_Mutation_p.L86F|ENOX2_ENST00000370927.1_Missense_Mutation_p.L115F|ENOX2_ENST00000370935.1_Missense_Mutation_p.L86F	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	115	Pro-rich.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGAGGTGGGAGATCTAAGTTG	0.423000													31	52					0	0	0.008361	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935600	94935600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94935600C>T	ENST00000337425.5	-	2	706	c.632G>A	c.(631-633)gGc>gAc	p.G211D	SERPINA9_ENST00000546329.1_Missense_Mutation_p.G175D|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G111D|SERPINA9_ENST00000424550.2_Missense_Mutation_p.G62D|SERPINA9_ENST00000448305.2_Missense_Mutation_p.G113D|SERPINA9_ENST00000380365.3_Missense_Mutation_p.G193D	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	193					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAGGTCAAGGCCTTGGATTAT	0.408000													83	247					0	0	0.014410	0	0
ZNF654	55279	broad.mit.edu	37	3	88188717	88188717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:88188717C>T	ENST00000309495.5	+	1	464	c.257C>T	c.(256-258)tCt>tTt	p.S86F	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AATGGGAATTCTGATAGTAAG	0.393000													10	42					0	0	0.010729	0	0
MIR493	574450	broad.mit.edu	37	14	101335434	101335434	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101335434C>T	ENST00000385254.1	+	0	38					NR_030172.1																						GGCTttcattcattcgtttgc	0.577000													58	170					0	0	0.014410	0	0
PKNOX2	63876	broad.mit.edu	37	11	125237849	125237849	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:125237849C>T	ENST00000298282.9	+	5	466	c.195C>T	c.(193-195)gcC>gcT	p.A65A	PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	65						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ACCCCCAGGCCCAGCTGGAGG	0.637000													15	47					0	0	0.004990	0	0
THSD7B	80731	broad.mit.edu	37	2	137814040	137814040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:137814040C>T	ENST00000409968.1	+	3	368	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	THSD7B_ENST00000413152.2_Missense_Mutation_p.R33W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R64W					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)		AGTCCAGAGTCGGGCAGTGTG	0.498000													19	46					0	0	0.014323	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934125	113934125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:113934125G>A	ENST00000335953.4	+	2	483	c.103G>A	c.(103-105)Gat>Aat	p.D35N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.D35N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	35	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACTTTGTGCGATGTGGTCAT	0.587000													38	32					0	0	0.007835	0	0
GOSR1	9527	broad.mit.edu	37	17	28808215	28808215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:28808215C>T	ENST00000225724.5	+	2	158	c.86C>T	c.(85-87)tCc>tTc	p.S29F	GOSR1_ENST00000581721.1_Missense_Mutation_p.S29F|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.S29F|GOSR1_ENST00000579905.1_3'UTR	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	29					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						AAACTAGTTTCCTTCAGCAAA	0.388000													42	117					0	0	0.010771	0	0
STK31	56164	broad.mit.edu	37	7	23768836	23768836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:23768836C>T	ENST00000354639.3	+	6	846	c.382C>T	c.(382-384)Cct>Tct	p.P128S	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.P128S|STK31_ENST00000355870.3_Missense_Mutation_p.P151S|STK31_ENST00000433467.2_Missense_Mutation_p.P151S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	151	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTACACATTCCTTCTGATCA	0.328000													27	44					0	0	0.005443	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977564	34977564	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:34977564C>T	ENST00000242315.3	+	7	1114	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	KIAA1045_ENST00000544237.1_Silent_p.I344I|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	344							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGGGTCCCATCGCAGATAGCA	0.602000													7	31					0	0	0.001984	0	0
ACOT12	134526	broad.mit.edu	37	5	80640856	80640856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:80640856C>T	ENST00000307624.3	-	8	806	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	260	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ACTCCAACTTCAACACTGTGA	0.587000													23	32					0	0	0.003330	0	0
FBXW4	6468	broad.mit.edu	37	10	103433355	103433355	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:103433355G>A	ENST00000331272.7	-	3	1050	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	144					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CATCTGGACGGAACTGGTAGG	0.483000													47	45					0	0	0.014410	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847842	43847842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:43847842C>T	ENST00000389420.3	-	12	1627	c.1628G>A	c.(1627-1629)gGg>gAg	p.G543E	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G543E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	543	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TACACATAGCCCATGACGGCA	0.373000													4	19					0	0	0.009096	0	0
AKNA	80709	broad.mit.edu	37	9	117106061	117106061	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117106061G>A	ENST00000307564.4	-	19	3845	c.3684C>T	c.(3682-3684)tcC>tcT	p.S1228S	AKNA_ENST00000223791.3_Silent_p.S688S|AKNA_ENST00000374079.4_Silent_p.S173S|AKNA_ENST00000374088.3_Silent_p.S1228S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Silent_p.S1147S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCGCCTTAGGGGACAGAACAT	0.527000													34	108					0	0	0.003755	0	0
PRLR	5618	broad.mit.edu	37	5	35065952	35065952	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:35065952T>C	ENST00000382002.5	-	10	1534	c.1108A>G	c.(1108-1110)Aat>Gat	p.N370D	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.N269D|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.N269D|PRLR_ENST00000310101.5_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	370					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGGAGGGATTGGCCTGGGGT	0.522000													34	60					0	0	0.010818	0	0
ANO2	57101	broad.mit.edu	37	12	5685149	5685149	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:5685149G>A	ENST00000327087.8	-	24	2543	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	ANO2_ENST00000546188.1_Silent_p.I825I|ANO2_ENST00000356134.5_Silent_p.I825I			Q9NQ90	ANO2_HUMAN	anoctamin 2	829						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCAGGCGGGGGATAAAGTCGG	0.517000													3	12					0	0	0.004672	0	0
CD55	1604	broad.mit.edu	37	1	207497975	207497975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207497975C>T	ENST00000367064.3	+	3	616	c.358C>T	c.(358-360)Cca>Tca	p.P120S	CD55_ENST00000367063.2_Missense_Mutation_p.P120S|CD55_ENST00000367062.4_Missense_Mutation_p.P120S|CD55_ENST00000367067.4_Intron|CD55_ENST00000391921.4_Intron|CD55_ENST00000367065.5_Missense_Mutation_p.P120S|CD55_ENST00000314754.8_Missense_Mutation_p.P120S|CD55_ENST00000391920.4_Missense_Mutation_p.P120S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	120	Sushi 2.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GAATTATTTTCCAGTCGGTAC	0.408000													55	140					0	0	0.014410	0	0
PCNXL3	399909	broad.mit.edu	37	11	65392946	65392946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65392946C>T	ENST00000355703.3	+	18	3639	c.3100C>T	c.(3100-3102)Ccg>Tcg	p.P1034S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1034						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGCCGAGCCCCCGGACCCCTT	0.697000													30	52					0	0	0.003755	0	0
BICD1	636	broad.mit.edu	37	12	32491742	32491742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:32491742G>A	ENST00000281474.5	+	8	2696	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	865					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTCCCTTTGTGATCAGAGCCG	0.428000													74	158					0	0	0.014410	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510144	77510144	+	Missense_Mutation	SNP	C	C	T	rs111715869		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:77510144C>T	ENST00000477717.1	+	3	752	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	173					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTTCTGGGGCCCCAGCAGCTA	0.622000													50	122					0	0	0.014410	0	0
ZNF516	9658	broad.mit.edu	37	18	74091084	74091084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:74091084G>A	ENST00000443185.2	-	4	3303	c.2986C>T	c.(2986-2988)Cct>Tct	p.P996S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	996					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAGGTAGAGGAGGAGCGCCC	0.672000													29	43					0	0	0.006320	0	0
USP40	55230	broad.mit.edu	37	2	234468559	234468559	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234468559G>A	ENST00000251722.6	-	4	396	c.279C>T	c.(277-279)atC>atT	p.I93I	USP40_ENST00000450966.1_Silent_p.I105I|USP40_ENST00000427112.2_Silent_p.I93I			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	93					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACTGTAAAGGGATGATTCGAA	0.408000													7	14					0	0	0.003080	0	0
PAK7	57144	broad.mit.edu	37	20	9560930	9560930	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9560930C>T	ENST00000378429.3	-	5	1398	c.852G>A	c.(850-852)caG>caA	p.Q284Q	PAK7_ENST00000378423.1_Silent_p.Q284Q|PAK7_ENST00000353224.5_Silent_p.Q284Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	284	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACCTGGACCTCTGCCGCATGG	0.542000													46	121					0	0	0.013114	0	0
TP63	8626	broad.mit.edu	37	3	189455563	189455563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:189455563G>A	ENST00000264731.3	+	2	186	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	TP63_ENST00000418709.2_Missense_Mutation_p.E33K|TP63_ENST00000392460.3_Missense_Mutation_p.E33K|TP63_ENST00000440651.2_Missense_Mutation_p.E33K|TP63_ENST00000382063.4_Missense_Mutation_p.E33K|TP63_ENST00000320472.5_Missense_Mutation_p.E33K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	33	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCTTGGAAAGAAAGTTATTA	0.358000										HNSCC(45;0.13)			58	72					0	0	0.014410	0	0
KPNA2	3838	broad.mit.edu	37	17	66036862	66036862	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:66036862C>T	ENST00000537025.2	+	4	902	c.282C>T	c.(280-282)ctC>ctT	p.L94L	KPNA2_ENST00000330459.3_Silent_p.L94L			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	94					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAATCAGCTCCAAGCTACTC	0.418000													87	217					0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113252033	113252033	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113252033G>A	ENST00000401783.2	-	9	2163	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.F609F|SVEP1_ENST00000374461.1_Silent_p.F586F|SVEP1_ENST00000374469.1_Silent_p.F586F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	609	HYR 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGGTGGGGTGAAAGCTGGAT	0.393000													9	41					0	0	0.010729	0	0
GAK	2580	broad.mit.edu	37	4	853510	853510	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:853510C>T	ENST00000314167.4	-	24	3277	c.3166_splice	c.e24-1	p.G1056_splice	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Splice_Site_p.G977_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1056					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GAAGAGGGGGCCTGGAGAAGG	0.607000													20	110					0	0	0.014323	0	0
ASTN2	23245	broad.mit.edu	37	9	120053793	120053793	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:120053793C>T	ENST00000313400.4	-	2	543		c.e2-1		ASTN2_ENST00000373996.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site|ASTN2_ENST00000361477.3_Splice_Site			O75129	ASTN2_HUMAN	astrotactin 2							integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCAGACATCTCTGCAAGACAA	0.587000													19	41					0	0	0.010504	0	0
MAP3K4	4216	broad.mit.edu	37	6	161518130	161518130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:161518130C>T	ENST00000392142.4	+	16	3594	c.3446C>T	c.(3445-3447)cCc>cTc	p.P1149L	MAP3K4_ENST00000366920.2_Missense_Mutation_p.P1145L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.P1145L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.P1149L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1149					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CGGAACAGCCCCCGTCCTATG	0.448000													38	67					0	0	0.006230	0	0
KL	9365	broad.mit.edu	37	13	33628096	33628096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:33628096C>T	ENST00000380099.3	+	2	1020	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.P31S	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	338	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGGTGACTATCCCGAGAGCAT	0.393000													88	113					0	0	0.014410	0	0
MERTK	10461	broad.mit.edu	37	2	112751951	112751951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:112751951G>A	ENST00000295408.4	+	9	1677	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	MERTK_ENST00000409780.1_Missense_Mutation_p.D298N|MERTK_ENST00000421804.2_Missense_Mutation_p.D474N			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	474	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCTTCAGTGATCCAGTGAA	0.527000													55	110					0	0	0.014410	0	0
SEMG2	6407	broad.mit.edu	37	20	43851542	43851542	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:43851542G>A	ENST00000372769.3	+	2	1359	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	423	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GTGGAGAAAAGGATGTACAGA	0.373000													39	74					0	0	0.006999	0	0
TENM3	55714	broad.mit.edu	37	4	183717822	183717822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:183717822C>T	ENST00000511685.1	+	27	7369	c.7246C>T	c.(7246-7248)Cat>Tat	p.H2416Y	TENM3_ENST00000406950.2_Missense_Mutation_p.H2416Y					teneurin transmembrane protein 3																		ATTTGGTTTCCATCTGCACAA	0.388000													17	28					0	0	0.008871	0	0
PLCB1	23236	broad.mit.edu	37	20	8769290	8769290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8769290G>A	ENST00000378641.3	+	29	3674	c.3199G>A	c.(3199-3201)Gaa>Aaa	p.E1067K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E1067K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E1067K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1067					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAAAGAAAGAATTAAAGAA	0.343000													7	18					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179574561	179574561	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179574561G>A	ENST00000589042.1	-	99	28709	c.28485C>T	c.(28483-28485)ttC>ttT	p.F9495F	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.F9178F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F8251F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9178							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)			GTCTTTTAGTGAAACTTGGTG	0.398000													24	68					0	0	0.006320	0	0
CACNA1E	777	broad.mit.edu	37	1	181680125	181680125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:181680125G>A	ENST00000526775.1	+	8	1256	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R315Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R364Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R364Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R364Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R315Q|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	364					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGAGAACCGAAGGGCTTTC	0.537000													28	99					0	0	0.010818	0	0
ACSL5	51703	broad.mit.edu	37	10	114158657	114158657	+	Splice_Site	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:114158657A>T	ENST00000393081.1	+	3	463		c.e3-1		ACSL5_ENST00000479936.1_Splice_Site|ACSL5_ENST00000354273.4_Splice_Site|ACSL5_ENST00000354655.4_Splice_Site|ACSL5_ENST00000356116.1_Splice_Site|ACSL5_ENST00000433418.1_Splice_Site	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5						fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTTGTGTCTTAGGGAGGAGCA	0.438000													32	53					0	0	0.003755	0	0
ZNF85	7639	broad.mit.edu	37	19	21132809	21132809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:21132809C>T	ENST00000601023.1	+	2	1958	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F	ZNF85_ENST00000345030.6_Missense_Mutation_p.L464F|ZNF85_ENST00000328178.8_Missense_Mutation_p.L497F			Q03923	ZNF85_HUMAN	zinc finger protein 85	497						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GCCCTCAACCCTTACTATCCA	0.348000													42	46					0	0	0.009718	0	0
RIC3	79608	broad.mit.edu	37	11	8132611	8132611	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:8132611C>T	ENST00000396677.2	-	3	257	c.258G>A	c.(256-258)gtG>gtA	p.V86V	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.V199V|RIC3_ENST00000343202.4_Silent_p.V247V|RIC3_ENST00000425599.2_Silent_p.V167V|RIC3_ENST00000309737.6_Silent_p.V248V|RIC3_ENST00000335425.7_Silent_p.V66V			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	248	Poly-Gly.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGGGTAATCCACCAAGATTG	0.403000													30	80					0	0	0.007291	0	0
SPDYE4	388333	broad.mit.edu	37	17	8660620	8660620	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:8660620G>A	ENST00000328794.6	-	2	476	c.300C>T	c.(298-300)tcC>tcT	p.S100S		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	100										breast(1)|endometrium(2)|kidney(1)	4						CAGGGAGCACGGAGGATGCTC	0.567000													4	3					0	0	0.001168	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102509599	102509599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:102509599C>T	ENST00000321521.9	+	21	3025	c.2452C>T	c.(2452-2454)Cgt>Tgt	p.R818C	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R818C|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.R818C|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	818					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGTCATGTTCGTACTAGATT	0.333000													7	19					0	0	0.008291	0	0
FCHSD2	9873	broad.mit.edu	37	11	72695196	72695196	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:72695196G>A	ENST00000409314.1	-	8	810	c.642C>T	c.(640-642)acC>acT	p.T214T	FCHSD2_ENST00000458644.2_Silent_p.T54T|FCHSD2_ENST00000409853.1_Silent_p.T158T|FCHSD2_ENST00000311172.7_Silent_p.T158T|FCHSD2_ENST00000409418.4_Silent_p.T214T			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	214							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTGCCGCTAGGGTAAGAAGAT	0.363000													124	161					0	0	0.014410	0	0
ZNF268	10795	broad.mit.edu	37	12	133779124	133779124	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:133779124C>T	ENST00000536435.2	+	6	1182	c.852C>T	c.(850-852)gcC>gcT	p.A284A	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.A123A|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.A284A	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	284						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGAGAAAGCCTTCAGCAGCA	0.408000													4	13					0	0	0.009096	0	0
MCPH1	79648	broad.mit.edu	37	8	6302730	6302730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:6302730C>T	ENST00000344683.5	+	8	1563	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L	MCPH1_ENST00000519480.1_Missense_Mutation_p.S496L|MCPH1_ENST00000522905.1_Missense_Mutation_p.S448L	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	496						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CGTGCAACTTCGAGTTGCGTG	0.478000													50	83					0	0	0.014410	0	0
ABCB5	340273	broad.mit.edu	37	7	20738039	20738039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:20738039C>T	ENST00000404938.2	+	17	2672	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	ABCB5_ENST00000258738.6_Missense_Mutation_p.P229S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	229	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATAAGTCTTCCTGAAGTCTC	0.333000													15	35					0	0	0.002450	0	0
EMCN	51705	broad.mit.edu	37	4	101386648	101386648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:101386648G>A	ENST00000296420.4	-	4	486	c.308C>T	c.(307-309)tCa>tTa	p.S103L	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.S103L|EMCN_ENST00000511970.1_Missense_Mutation_p.S103L	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	103	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TGTTACGTTTGAAATGATGGA	0.363000													20	56					0	0	0.010504	0	0
ASTN2	23245	broad.mit.edu	37	9	119903672	119903672	+	Silent	SNP	G	G	A	rs140458736	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:119903672G>A	ENST00000313400.4	-	4	1201	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.I367I|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	367						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGCTGACCGATCTCGATGG	0.587000													12	46					0	0	0.001855	0	0
THSD4	79875	broad.mit.edu	37	15	71535268	71535268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:71535268C>T	ENST00000355327.3	+	5	879	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	THSD4_ENST00000261862.6_Missense_Mutation_p.H249Y			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	249	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCTTTGACCCATGATCAAGG	0.577000													17	66					0	0	0.006122	0	0
SALL1	6299	broad.mit.edu	37	16	51173074	51173074	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:51173074T>C	ENST00000440970.1	-	2	3199	c.2768A>G	c.(2767-2769)tAt>tGt	p.Y923C	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.Y1020C|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1020					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)			ATGACTTCTATAGTGAATGTC	0.413000													57	110					0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139323151	139323151	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:139323151G>A	ENST00000395297.1	-	3	260	c.90C>T	c.(88-90)atC>atT	p.I30I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	30										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGTCACTCGGATCTGGTAAT	0.483000										HNSCC(54;0.14)			30	61					0	0	0.012213	0	0
FCRL1	115350	broad.mit.edu	37	1	157773789	157773789	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:157773789G>A	ENST00000358292.3	-	3	216	c.165C>T	c.(163-165)ttC>ttT	p.F55F	FCRL1_ENST00000368176.3_Silent_p.F55F|FCRL1_ENST00000491942.1_Silent_p.F55F|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	55	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGTGTCTCTGAAAAAGCAGA	0.592000													38	116					0	0	0.006999	0	0
SCN11A	11280	broad.mit.edu	37	3	38912235	38912235	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38912235C>T	ENST00000302328.3	-	22	3958	c.3759_splice	c.e22-1	p.A1254_splice	SCN11A_ENST00000444237.2_Splice_Site_p.A1254_splice|SCN11A_ENST00000456224.3_Splice_Site_p.A1216_splice|SCN11A_ENST00000450244.1_Splice_Site_p.A1254_splice	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1254					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1254S(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTAAATGTTGCCTGCAACAAA	0.418000													16	58					0	0	0.003163	0	0
TRHR	7201	broad.mit.edu	37	8	110099751	110099751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110099751G>A	ENST00000518632.1	+	2	361	c.10G>A	c.(10-12)Gag>Aag	p.E4K	TRHR_ENST00000311762.2_Missense_Mutation_p.E4K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	4						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGGAAAACGAGACAGTCAG	0.458000													7	38					0	0	0.003080	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72050882	72050882	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:72050882G>A	ENST00000378743.3	-	2	1156	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ZFC3H1_ENST00000548100.1_Silent_p.F266F|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.F266F	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	266					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGGTCCTCGAAGTTCAATG	0.363000													33	79					0	0	0.013726	0	0
KRT4	3851	broad.mit.edu	37	12	53200993	53200993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53200993C>T	ENST00000551956.1	-	9	1915	c.1423G>A	c.(1423-1425)Gga>Aga	p.G475R	KRT4_ENST00000458244.2_Missense_Mutation_p.G455R|KRT4_ENST00000293774.4_Missense_Mutation_p.G549R			B4DRS2	B4DRS2_HUMAN	keratin 4	475						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTTCCTAATCCTCCGCTGATG	0.572000													28	57					0	0	0.005443	0	0
FGD5	152273	broad.mit.edu	37	3	14952406	14952406	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:14952406G>A	ENST00000285046.5	+	11	3485	c.3375G>A	c.(3373-3375)ggG>ggA	p.G1125G	FGD5_ENST00000543601.1_Silent_p.G884G|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1125	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGTAACAGGGAAAAACAGAC	0.542000													18	30					0	0	0.003330	0	0
CEP70	80321	broad.mit.edu	37	3	138251366	138251366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138251366G>A	ENST00000264982.3	-	8	948	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	CEP70_ENST00000489254.1_Missense_Mutation_p.H76Y|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Missense_Mutation_p.H208Y|CEP70_ENST00000484888.1_Missense_Mutation_p.H228Y|CEP70_ENST00000481834.1_Missense_Mutation_p.H228Y	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	228					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTTTGTGTATGAATTTTTCTA	0.284000													102	181					0	0	0.014410	0	0
TCF7L2	6934	broad.mit.edu	37	10	114799871	114799871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:114799871C>T	ENST00000545257.1	+	5	1045	c.538C>T	c.(538-540)Ccg>Tcg	p.P180S	TCF7L2_ENST00000369395.1_Missense_Mutation_p.P157S|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P180S|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P180S|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P157S|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P180S|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P180S|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P157S|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P180S|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P157S|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P180S			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	180	Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GTCCCCATCACCGGCACACAT	0.493000			T	VTI1A	colorectal								58	92					0	0	0.014410	0	0
PLAU	5328	broad.mit.edu	37	10	75673310	75673310	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:75673310C>T	ENST00000446342.1	+	6	905	c.423C>T	c.(421-423)tcC>tcT	p.S141S	PLAU_ENST00000372764.3_Silent_p.S158S|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Silent_p.S122S|C10orf55_ENST00000412307.2_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	158	Kringle.		P -> L (in dbSNP:rs2227564).		blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AAAAGCCCTCCTCTCCTCCAG	0.527000													216	315					0	0	0.014410	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949736	45949736	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45949736G>A	ENST00000323084.4	-	5	800	c.735C>T	c.(733-735)gtC>gtT	p.V245V	TSPEAR_ENST00000397916.1_Silent_p.V177V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	245					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGCCTGCAGGACCCGTGGGA	0.637000													22	86					0	0	0.002780	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217855	130217855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:130217855G>A	ENST00000276211.5	+	4	812	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R144Q|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R20Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	156	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AACGTGGTGCGAAGGGTGTTT	0.617000													50	97					0	0	0.014410	0	0
CACNG3	10368	broad.mit.edu	37	16	24372930	24372930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:24372930C>T	ENST00000005284.3	+	4	1896	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	232					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GTATCGATTCCGGAGGCGGTC	0.527000													16	66					0	0	0.003163	0	0
MARCH10	162333	broad.mit.edu	37	17	60813617	60813617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:60813617C>T	ENST00000544856.2	-	7	1987	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.E538K|MARCH10_ENST00000456609.2_Missense_Mutation_p.E538K|MARCH10_ENST00000583600.1_Missense_Mutation_p.E576K|RP11-156L14.1_ENST00000579201.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	538							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACAGCAAATTCGTGTGCACTG	0.443000													56	133					0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414780	105414780	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:105414780G>A	ENST00000333244.5	-	7	7127	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2336						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)			AGGCCTCGATGGACTTGCCAA	0.582000													136	460					0	0	0.014410	0	0
AGBL1	123624	broad.mit.edu	37	15	87089343	87089343	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:87089343C>T	ENST00000441037.2	+	19	2753	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	AGBL1_ENST00000389298.3_Silent_p.I617I|AGBL1_ENST00000421325.2_Silent_p.I886I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	886					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.I886I(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CATCTACTATCCTAGAGGAGG	0.473000													8	27					0	0	0.008291	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088615	65088615	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65088615C>T	ENST00000544348.1	+	2	852	c.246C>T	c.(244-246)ccC>ccT	p.P82P	CDC42EP2_ENST00000533419.1_Silent_p.P82P|CDC42EP2_ENST00000279249.2_Silent_p.P82P			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	82					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TCGACCTCCCCTTCCAGTTCA	0.642000													45	55					0	0	0.010771	0	0
MEPE	56955	broad.mit.edu	37	4	88766951	88766951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:88766951G>A	ENST00000497649.2	+	6	1237	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	MEPE_ENST00000395102.4_Missense_Mutation_p.E342K|MEPE_ENST00000361056.3_Missense_Mutation_p.E311K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.E198K|MEPE_ENST00000424957.3_Missense_Mutation_p.E311K|MEPE_ENST00000560249.1_Missense_Mutation_p.E198K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	311					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAGAGAGAAGAAAATGGTGG	0.448000													20	47					0	0	0.010504	0	0
KLHL24	54800	broad.mit.edu	37	3	183390263	183390263	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:183390263C>T	ENST00000454652.1	+	8	1979	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	KLHL24_ENST00000242810.6_Silent_p.F531F|KLHL24_ENST00000476808.1_Silent_p.F531F			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	531						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGAATACATTCAGCCGTCAGG	0.353000													30	32					0	0	0.008361	0	0
ZIM3	114026	broad.mit.edu	37	19	57646651	57646651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:57646651C>T	ENST00000269834.1	-	5	1439	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D352N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTCATGATCGATGACATTG	0.383000													83	114					0	0	0.014410	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324823	150324823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:150324823C>T	ENST00000328902.5	-	3	1079	c.863G>A	c.(862-864)gGg>gAg	p.G288E	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	288							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCAGCCTTCCCCAGCAGGCA	0.587000													34	108					0	0	0.004878	0	0
OR8K3	219473	broad.mit.edu	37	11	56085842	56085842	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56085842C>T	ENST00000312711.1	+	1	60	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I20I(1)		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)					TCACAGATATCGCTGAGCTGC	0.433000													32	46					0	0	0.012213	0	0
PTPRT	11122	broad.mit.edu	37	20	40944528	40944528	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:40944528G>A	ENST00000373198.3	-	12	2209	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	PTPRT_ENST00000373201.1_Silent_p.L658L|PTPRT_ENST00000373193.3_Silent_p.L658L|PTPRT_ENST00000373190.1_Silent_p.L658L|PTPRT_ENST00000373187.1_Silent_p.L658L|PTPRT_ENST00000373184.1_Silent_p.L658L|PTPRT_ENST00000356100.2_Silent_p.L658L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	658	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGAGAATCGAGGCTGGAGG	0.517000													43	123					0	0	0.014410	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146563	70146563	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:70146563C>T	ENST00000335568.5	+	1	347	c.345C>T	c.(343-345)atC>atT	p.I115I	UGT2B28_ENST00000511240.1_Silent_p.I115I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	115					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AACAAGAAATCCTGTGGGAAT	0.294000													5	55					0	0	0.000602	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949818	45949818	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45949818A>T	ENST00000323084.4	-	5	718	c.653T>A	c.(652-654)gTc>gAc	p.V218D	TSPEAR_ENST00000397916.1_Missense_Mutation_p.V150D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	218	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CGGCAGCAGGACCAGTTGCCT	0.692000													8	32					0	0	0.003080	0	0
LACRT	90070	broad.mit.edu	37	12	55026969	55026969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55026969C>T	ENST00000257867.4	-	2	160	c.107G>A	c.(106-108)gGg>gAg	p.G36E	LACRT_ENST00000547511.1_Missense_Mutation_p.G36E	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	36					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CTCACAGGTCCCAGCTTCCTG	0.582000													66	217					0	0	0.014410	0	0
CEP44	80817	broad.mit.edu	37	4	175224860	175224860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:175224860C>T	ENST00000503780.1	+	5	658	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	CEP44_ENST00000426172.1_Missense_Mutation_p.R82C|CEP44_ENST00000296519.4_Missense_Mutation_p.R82C|CEP44_ENST00000457424.2_Missense_Mutation_p.R82C	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	82						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GCAGCTTCTTCGTGATCAATT	0.343000													4	47					0	0	0.001168	0	0
IFNB1	3456	broad.mit.edu	37	9	21077760	21077760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:21077760G>A	ENST00000380232.2	-	1	183	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	37					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	p.Q37K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TTCTGACACTGAAAATTGCTG	0.468000													16	39					0	0	0.004007	0	0
SOX7	83595	broad.mit.edu	37	8	10583914	10583914	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10583914G>A	ENST00000304501.1	-	2	579	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SOX7_ENST00000554914.1_Silent_p.P219P|SOX7_ENST00000553390.1_Silent_p.P219P	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	167					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGCAGTGCCGGGGGAGTACT	0.726000													15	42					0	0	0.002450	0	0
PRDM9	56979	broad.mit.edu	37	5	23522461	23522461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:23522461G>A	ENST00000296682.3	+	7	739	c.557G>A	c.(556-558)aGa>aAa	p.R186K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	186					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGCGAGAAAGAAAGGGTCAT	0.473000										HNSCC(3;0.000094)			39	142					0	0	0.010771	0	0
CETP	1071	broad.mit.edu	37	16	57004989	57004989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:57004989C>T	ENST00000200676.3	+	6	702	c.572C>T	c.(571-573)aCc>aTc	p.T191I	CETP_ENST00000379780.2_Missense_Mutation_p.T191I|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000566128.1_Missense_Mutation_p.T126I	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	191					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATCTCCTTCACCCTGAAGCTG	0.587000													34	80					0	0	0.005524	0	0
ABCD2	225	broad.mit.edu	37	12	39947731	39947731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:39947731C>A	ENST00000308666.3	-	10	2341	c.2206G>T	c.(2206-2208)Gaa>Taa	p.E736*		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	736					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTCTCATCTTCATTTTTAATT	0.318000													4	15					0.00024832	0.000251847	0.009096	1	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57257937C>T	ENST00000343433.6	-	2	629	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	183										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGCTTTTTCCTGGGTTCCT	0.478000													28	85					0	0	0.007291	0	0
SPON1	10418	broad.mit.edu	37	11	14063132	14063132	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:14063132C>T	ENST00000310358.7	+	0	948							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAAAGCACTCCACGGAGGAGG	0.473000													37	157					0	0	0.004289	0	0
FAM228A	653140	broad.mit.edu	37	2	24406459	24406459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:24406459C>T	ENST00000295150.3	+	5	432	c.346C>T	c.(346-348)Cca>Tca	p.P116S	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		CTGTGTGATTCCAAAAGAGTG	0.408000													26	26					0	0	0.006320	0	0
TXNDC8	255220	broad.mit.edu	37	9	113066803	113066803	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113066803A>T	ENST00000374510.4	-	5	276	c.265T>A	c.(265-267)Ttc>Atc	p.F89I	TXNDC8_ENST00000374511.3_Missense_Mutation_p.F89I|TXNDC8_ENST00000423740.2_Missense_Mutation_p.F69I	NM_001003936.2	NP_001003936.1	Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	89	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATTCTTGAGAATAGGGTTACC	0.398000													28	81					0	0	0.007291	0	0
INSL4	3641	broad.mit.edu	37	9	5231621	5231621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:5231621C>T	ENST00000239316.4	+	1	203	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	33					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GGATGTGGTCCCCGATTTGGA	0.562000													14	29					0	0	0.001855	0	0
ZNF414	84330	broad.mit.edu	37	19	8576745	8576745	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:8576745G>A	ENST00000393927.4	-	5	743	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF414_ENST00000255616.8_Silent_p.P210P	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CCAGGGCCGGGGGTGGCGGCG	0.726000													10	26					0	0	0.010729	0	0
NAA15	80155	broad.mit.edu	37	4	140299993	140299993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:140299993C>T	ENST00000296543.5	+	17	2463	c.2140C>T	c.(2140-2142)Cgt>Tgt	p.R714C	NAA15_ENST00000398947.1_Missense_Mutation_p.R714C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	714					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGTATGATTCGTCTCTTTAA	0.333000													23	50					0	0	0.004656	0	0
TRAT1	50852	broad.mit.edu	37	3	108572476	108572476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:108572476G>A	ENST00000295756.6	+	6	543	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	TRAT1_ENST00000426646.1_Missense_Mutation_p.E68K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	105					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGCAACCAATGAAACACAGAT	0.403000													58	89					0	0	0.014410	0	0
DENND3	22898	broad.mit.edu	37	8	142173457	142173457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:142173457G>A	ENST00000519811.1	+	10	1448	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	DENND3_ENST00000262585.2_Missense_Mutation_p.E380K|DENND3_ENST00000424248.1_Missense_Mutation_p.E328K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	380										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TTTAAACTATGAACACAGAGT	0.378000													66	242					0	0	0.014410	0	0
SETX	23064	broad.mit.edu	37	9	135205748	135205748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:135205748G>A	ENST00000372169.2	-	10	1419	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SETX_ENST00000224140.5_Missense_Mutation_p.P413S|SETX_ENST00000393220.1_Missense_Mutation_p.P413S			Q7Z333	SETX_HUMAN	senataxin	413			P -> L (in SCAR1).		cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGGACAAAAGGGATGAACCAT	0.408000													26	71					0	0	0.007291	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846112	130846112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:130846112G>A	ENST00000245255.3	+	16	2208	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	646	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTCAATCGCAGGATTTGTTGC	0.488000													30	99					0	0	0.012213	0	0
PPARA	5465	broad.mit.edu	37	22	46631032	46631032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:46631032C>T	ENST00000396000.2	+	8	1427	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	PPARA_ENST00000402126.1_Missense_Mutation_p.R388C|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.R388C|PPARA_ENST00000407236.1_Missense_Mutation_p.R388C			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	388	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GAGACTAGATCGTCCTGGCCT	0.448000													69	171					0	0	0.014410	0	0
MUC2	4583	broad.mit.edu	37	11	1095330	1095330	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1095330C>T	ENST00000441003.2	+	32	6177	c.6150C>T	c.(6148-6150)tgC>tgT	p.C2050C	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Silent_p.C188C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4412						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCCGAGTGCCCAGACTTTG	0.687000													14	47					0	0	0.004990	0	0
MACF1	23499	broad.mit.edu	37	1	39818781	39818781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:39818781C>T	ENST00000564288.1	+	44	12079	c.11302C>T	c.(11302-11304)Ctt>Ttt	p.L3768F	MACF1_ENST00000539005.1_Missense_Mutation_p.L1706F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2208F|MACF1_ENST00000317713.7_Missense_Mutation_p.L1706F|MACF1_ENST00000361689.2_Missense_Mutation_p.L1706F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.L3773F|MACF1_ENST00000545844.1_Missense_Mutation_p.L1706F|MACF1_ENST00000567887.1_Missense_Mutation_p.L3805F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3773					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTGACCAACCTTCCAGGAAT	0.512000													15	52					0	0	0.004007	0	0
DLK1	8788	broad.mit.edu	37	14	101201152	101201152	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101201152G>A	ENST00000341267.4	+	5	1313	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E	DLK1_ENST00000331224.6_Silent_p.E284E	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	357					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				ACAGCGGGGAGGACCTGGCCG	0.577000													57	151					0	0	0.014410	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398358	23398358	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:23398358C>T	ENST00000379361.4	+	2	1862	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	334	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GAGTCCCTTTCGTCATGCTAG	0.483000													64	83					0	0	0.014410	0	0
BSX	390259	broad.mit.edu	37	11	122850164	122850164	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:122850164C>T	ENST00000343035.2	-	2	312	c.262_splice	c.e2-1	p.G88_splice		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	88										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGACTGGCATCCCTGCAGAGA	0.687000													28	43					0	0	0.005443	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749605	22749605	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:22749605C>T	ENST00000390298.2	+	0	163																											CCTGTGCTTCCAGCACTGGAG	0.507000													35	43					0	0	0.013726	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954519	79954519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:79954519C>T	ENST00000306729.7	+	7	827	c.730C>T	c.(730-732)Cct>Tct	p.P244S	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.P244S|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P167S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	244							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCCTTTGTTCCTTTCTCGGG	0.652000			T	TFE3	alveolar soft part sarcoma								30	68					0	0	0.008361	0	0
MEST	4232	broad.mit.edu	37	7	130138042	130138042	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:130138042G>A	ENST00000223215.4	+	5	623	c.402G>A	c.(400-402)ctG>ctA	p.L134L	MEST_ENST00000437945.1_Silent_p.L134L|MEST_ENST00000416162.2_Silent_p.L125L|MEST_ENST00000393187.1_Silent_p.L125L|MEST_ENST00000378576.4_Silent_p.L125L|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000341441.4_Silent_p.L125L|MEST_ENST00000462132.1_3'UTR	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	134					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGCGGCATCTGGGGCTCCAGA	0.493000													138	393					0	0	0.014410	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815818	23815818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:23815818C>T	ENST00000264867.2	-	8	1407	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	430					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TAGCACTGGTCTGAATCTGTG	0.468000													9	47					0	0	0.004482	0	0
RFT1	91869	broad.mit.edu	37	3	53153976	53153976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:53153976G>A	ENST00000296292.3	-	6	681	c.620C>T	c.(619-621)tCc>tTc	p.S207F	RFT1_ENST00000394738.3_Missense_Mutation_p.S168F	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	207					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TGATTCTGGGGAACCCAGTAA	0.328000													37	120					0	0	0.005524	0	0
SNRPC	6631	broad.mit.edu	37	6	34738119	34738119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:34738119C>T	ENST00000374017.3	+	4	652	c.365C>T	c.(364-366)cCc>cTc	p.P122L	SNRPC_ENST00000374018.1_Missense_Mutation_p.P60L|SNRPC_ENST00000244520.5_Missense_Mutation_p.P101L|SNRPC_ENST00000474635.1_3'UTR			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	101					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGGGCCCTCCCATGATGCCA	0.502000													34	97					0	0	0.004878	0	0
SSPO	23145	broad.mit.edu	37	7	149483265	149483265	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149483265C>T	ENST00000378016.2	+	0	3333							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGCCTCTTCCTGCTGCTCT	0.657000													7	14					0	0	0.003080	0	0
KIAA1324	57535	broad.mit.edu	37	1	109745596	109745596	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:109745596C>T	ENST00000369939.3	+	22	3187	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	KIAA1324_ENST00000529753.1_Silent_p.L915L|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	1002					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTCAGTGCCGCTGAAGACATC	0.567000													180	199					0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:41719705C>T	ENST00000400454.1	-	6	1579	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	368	Ig-like C2-type 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	p.E368Q(1)		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)				ATAAGGTTTTCGTGGTTGATC	0.512000													76	286					0	0	0.014410	0	0
OR10K1	391109	broad.mit.edu	37	1	158435933	158435933	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158435933C>T	ENST00000289451.2	+	1	662	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTCCGGCTTCAGTCAGCTGG	0.478000													46	185					0	0	0.014410	0	0
OR52N2	390077	broad.mit.edu	37	11	5842052	5842052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5842052C>T	ENST00000317037.2	+	1	509	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATTCACTCTCCTCACCAA	0.537000													21	92					0	0	0.008871	0	0
TFPI	7035	broad.mit.edu	37	2	188343432	188343432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:188343432C>T	ENST00000409676.1	-	8	991	c.727G>A	c.(727-729)Gga>Aga	p.G243R	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000233156.3_Intron|TFPI_ENST00000339091.4_Missense_Mutation_p.G243R|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000453517.1_RNA			P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	0	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CTATCCAATCCTAGAAAGAAC	0.353000													11	32					0	0	0.008291	0	0
COL24A1	255631	broad.mit.edu	37	1	86306910	86306910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:86306910C>T	ENST00000370571.2	-	42	3988	c.3622G>A	c.(3622-3624)Gaa>Aaa	p.E1208K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1208K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1208	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTACTGGTTCACCTCGAGGC	0.328000													20	23					0	0	0.014323	0	0
DDR1	780	broad.mit.edu	37	6	30862383	30862383	+	Missense_Mutation	SNP	C	C	T	rs150721017	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30862383C>T	ENST00000324771.8	+	13	1996	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L	DDR1_ENST00000418800.2_Missense_Mutation_p.P483L|DDR1_ENST00000376570.4_Missense_Mutation_p.P483L|DDR1_ENST00000508312.1_Missense_Mutation_p.P501L|DDR1_ENST00000454612.2_Missense_Mutation_p.P483L|DDR1_ENST00000376575.3_Missense_Mutation_p.P483L|DDR1_ENST00000452441.1_Missense_Mutation_p.P483L|DDR1_ENST00000361741.4_Missense_Mutation_p.R187C|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.P483L|DDR1_ENST00000513240.1_Missense_Mutation_p.P483L|DDR1_ENST00000376567.2_Missense_Mutation_p.P483L|DDR1_ENST00000376569.3_Missense_Mutation_p.P483L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	483	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAGCCACCCCCGTACCAGGAG	0.627000													40	152					0	0	0.011902	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323922	79323922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:79323922C>T	ENST00000428286.1	-	8	3391	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1090K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1090					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGTTTGTTTCATTGTACAGT	0.517000													40	104					0	0	0.009718	0	0
SGSM1	129049	broad.mit.edu	37	22	25264407	25264407	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25264407C>T	ENST00000400358.4	+	11	1116	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	SGSM1_ENST00000400359.4_Silent_p.F353F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	353						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCTTCCGCTTCCCCAAGGGCG	0.652000													39	105					0	0	0.006230	0	0
RNF2	6045	broad.mit.edu	37	1	185056719	185056719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:185056719C>T	ENST00000367510.3	+	2	322	c.34C>T	c.(34-36)Cca>Tca	p.P12S	RNF2_ENST00000367509.4_Missense_Mutation_p.P12S	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	12	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CGGAACTCAACCATTAAGCAA	0.403000													77	123					0	0	0.014410	0	0
INHBA	3624	broad.mit.edu	37	7	41729931	41729931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:41729931C>T	ENST00000242208.4	-	3	844	c.598G>A	c.(598-600)Gag>Aag	p.E200K	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.E200K	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	200					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						TCACTCCTCTCCCCCTTTAAG	0.582000										TSP Lung(11;0.080)			12	52					0	0	0.013537	0	0
CES5A	221223	broad.mit.edu	37	16	55905641	55905641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:55905641G>A	ENST00000521992.1	-	4	545	c.400C>T	c.(400-402)Caa>Taa	p.Q134*	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000290567.9_Nonsense_Mutation_p.Q105*|CES5A_ENST00000520435.1_Nonsense_Mutation_p.Q105*|CES5A_ENST00000319165.9_Nonsense_Mutation_p.Q105*|CES5A_ENST00000518005.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	105						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGCATATGTTGATCTAAGAGC	0.512000													6	43					0	0	0.001984	0	0
CEP104	9731	broad.mit.edu	37	1	3753955	3753955	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:3753955G>A	ENST00000378230.3	-	9	1344	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	340						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTTCCTGAAGGAAAGGTTCTG	0.478000													24	70					0	0	0.003330	0	0
SSPO	23145	broad.mit.edu	37	7	149516415	149516415	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149516415C>T	ENST00000378016.2	+	0	11818							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGCCCTGGCCCTGGCTGTGG	0.682000													15	45					0	0	0.002450	0	0
G3BP1	10146	broad.mit.edu	37	5	151179453	151179453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:151179453C>T	ENST00000394123.3	+	9	992	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	G3BP1_ENST00000543466.1_Missense_Mutation_p.R101C|G3BP1_ENST00000356245.3_Missense_Mutation_p.R283C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	283					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TTTTCAGCCCCGTCCAGAGTC	0.388000													17	20					0	0	0.004990	0	0
VNN1	8876	broad.mit.edu	37	6	133013660	133013660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:133013660C>T	ENST00000367928.4	-	5	903	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	297	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.G297V(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GAGGAGTTTTCCCTCTTCTGT	0.438000													11	20					0	0	0.008291	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011051	23011051	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:23011051G>A	ENST00000390304.2	+	0	152																											AGACAGCCAGGATCACCTGCT	0.542000													52	177					0	0	0.014410	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939071	2939071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2939071C>T	ENST00000378404.2	+	1	1026	c.821C>T	c.(820-822)cCc>cTc	p.P274L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	274						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGCCAGAGCCCCGGGCTCTCG	0.632000													50	168					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9061105	9061105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9061105C>T	ENST00000397910.4	-	3	26544	c.26341G>A	c.(26341-26343)Gga>Aga	p.G8781R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8783	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						TCTGCTGATCCTGTCGTGGTG	0.512000													39	80					0	0	0.008740	0	0
ZZEF1	23140	broad.mit.edu	37	17	3990781	3990781	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:3990781G>A	ENST00000381638.2	-	14	2413	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	763							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAAGACCCGCGAAGTCCAGAA	0.303000													27	41					0	0	0.009535	0	0
TRO	7216	broad.mit.edu	37	X	54951462	54951462	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:54951462C>T	ENST00000173898.7	+	6	1558	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRO_ENST00000484031.1_3'UTR|TRO_ENST00000375022.4_Silent_p.F482F|TRO_ENST00000375041.2_Silent_p.F85F|TRO_ENST00000420798.2_Silent_p.F13F|TRO_ENST00000399736.1_Silent_p.F85F|TRO_ENST00000319167.8_Silent_p.F482F	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	482	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGAATATTTCCCAGAAATCA	0.502000													20	27					0	0	0.002780	0	0
NCAM2	4685	broad.mit.edu	37	21	22652919	22652919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:22652919C>T	ENST00000400546.1	+	2	326	c.77C>T	c.(76-78)tCa>tTa	p.S26L	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.S51L|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	26	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTGACAATTTCACTTAGCAAA	0.323000													11	18					0	0	0.001855	0	0
KCNA3	3738	broad.mit.edu	37	1	111216544	111216544	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:111216544G>A	ENST00000369769.2	-	1	1111	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	296						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCCACCACGAAGAAGGGAT	0.597000													40	223					0	0	0.007835	0	0
C3orf56	285311	broad.mit.edu	37	3	126915582	126915582	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126915582C>T	ENST00000398112.1	+	2	294	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GCCGTGCCTTCGAGGCCTCCG	0.612000													14	29					0	0	0.002450	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085753	42085753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:42085753G>A	ENST00000407170.2	+	4	901	c.88G>A	c.(88-90)Gag>Aag	p.E30K	CEACAM21_ENST00000401445.2_Missense_Mutation_p.E158K|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.E158K			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	158						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CACAGTCACAGAGAAGGGCTC	0.537000													23	40					0	0	0.003330	0	0
TRAF1	7185	broad.mit.edu	37	9	123675969	123675969	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:123675969G>A	ENST00000373887.3	-	5	2787	c.342C>T	c.(340-342)tcC>tcT	p.S114S	TRAF1_ENST00000546084.1_5'UTR|TRAF1_ENST00000540010.1_Silent_p.S114S	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	114					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GGTTTAGGTGGGAGGTCTGGG	0.597000													43	117					0	0	0.014410	0	0
MAPK4	5596	broad.mit.edu	37	18	48252376	48252376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:48252376C>T	ENST00000400384.2	+	5	1934	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.R89C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	300	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCCCATGGATCGCCTAACAGC	0.547000													53	99					0	0	0.014410	0	0
PLIN4	729359	broad.mit.edu	37	19	4511331	4511331	+	Nonsense_Mutation	SNP	G	G	A	rs71263980		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4511331G>A	ENST00000301286.3	-	3	2598	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	867	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGGCCCCCCTGGACGGCCCCT	0.572000													42	185					0	0	0.014410	0	0
CD48	962	broad.mit.edu	37	1	160681539	160681539	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160681539A>G	ENST00000368045.3	-	1	54	c.15T>C	c.(13-15)ggT>ggC	p.G5G	CD48_ENST00000368046.3_Silent_p.G5G			P09326	CD48_HUMAN	CD48 molecule	5					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACGAATCCCAACCTCTGGAGC	0.512000													9	39					0	0	0.004482	0	0
SNHG23	100507242	broad.mit.edu	37	14	101423559	101423559	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101423559G>A	ENST00000556637.1	+	0	464				SNORD114-6_ENST00000364393.1_RNA																							TATATGTCTGGAACTCTGAGG	0.333000													5	30					0	0	0.001984	0	0
SPTA1	6708	broad.mit.edu	37	1	158615104	158615104	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158615104G>A	ENST00000368148.3	-	29	4248	c.4068C>T	c.(4066-4068)atC>atT	p.I1356I	SPTA1_ENST00000368147.3_Silent_p.I1356I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1356					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCCACTGTCGATAAGTTCTG	0.498000													23	71					0	0	0.014323	0	0
DAB1	1600	broad.mit.edu	37	1	57480957	57480957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57480957G>A	ENST00000371236.2	-	12	1306	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	DAB1_ENST00000420954.2_Missense_Mutation_p.P346L|DAB1_ENST00000371231.1_Missense_Mutation_p.P381L|DAB1_ENST00000439789.2_Missense_Mutation_p.P262L|DAB1_ENST00000414851.2_Missense_Mutation_p.P330L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P348L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	381					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGAGTGGCAGGAAAGAGACC	0.637000													42	136					0	0	0.007835	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357120	104357120	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:104357120C>T	ENST00000374806.1	-	1	163	c.93G>A	c.(91-93)aaG>aaA	p.K31K	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	28	EF-hand 1.						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)	AGTCCAACTTCTTAAACCTCC	0.547000													55	136					0	0	0.014410	0	0
FASTK	10922	broad.mit.edu	37	7	150776851	150776851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:150776851G>A	ENST00000540185.1	-	2	743	c.139C>T	c.(139-141)Cct>Tct	p.P47S	FASTK_ENST00000353841.2_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.P81S|FASTK_ENST00000297532.6_Missense_Mutation_p.P81S|FASTK_ENST00000489884.1_Intron			Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	81					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCTTGCACAGGACCTGCACTG	0.667000													5	17					0	0	0.000602	0	0
SCG2	7857	broad.mit.edu	37	2	224463214	224463214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:224463214C>T	ENST00000305409.2	-	2	1019	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	263					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTCACCTCTTCCTGGGTTTGA	0.433000													80	269					0	0	0.014410	0	0
PLOD1	5351	broad.mit.edu	37	1	12027068	12027068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12027068C>T	ENST00000196061.4	+	16	1702	c.1675C>T	c.(1675-1677)Ccc>Tcc	p.P559S	PLOD1_ENST00000376369.3_Missense_Mutation_p.P606S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	559					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTATTGGTTCCCCATCTTCAC	0.607000													40	166					0	0	0.014410	0	0
MIR1302-3	100302128	broad.mit.edu	37	2	114340638	114340638	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:114340638C>T	ENST00000408128.1	-	0	35					NR_031632.1																						cgaaattattcgttgtttatc	0.358000													13	284					0	0	0.002780	0	0
TNNI3K	51086	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:74905279G>A	ENST00000370891.2	+	22	2303	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCACTGGCGAAATTCCATT	0.438000													16	61					0	0	0.004007	0	0
CDS1	1040	broad.mit.edu	37	4	85564253	85564253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:85564253G>A	ENST00000295887.5	+	11	1532	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	370					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GGCCCATTTGGAGGCTTCTTT	0.388000													44	103					0	0	0.013114	0	0
AHNAK	79026	broad.mit.edu	37	11	62291642	62291642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:62291642G>A	ENST00000378024.4	-	5	10521	c.10247C>T	c.(10246-10248)tCt>tTt	p.S3416F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3416					nervous system development	nucleus	protein binding			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)				GTCAGGCATAGAAACTTTGGG	0.403000													63	60					0	0	0.014410	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386570	56386570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:56386570G>A	ENST00000355701.3	-	22	4933	c.4063C>T	c.(4063-4065)Cga>Tga	p.R1355*	BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.R1295*|BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.R1355*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1355						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGTCTCGGGAAGAACAG	0.612000													41	107					0	0	0.006999	0	0
GOLGA3	2802	broad.mit.edu	37	12	133385072	133385072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:133385072G>A	ENST00000204726.3	-	5	1141	c.583C>T	c.(583-585)Cca>Tca	p.P195S	GOLGA3_ENST00000456883.2_Missense_Mutation_p.P195S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P195S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.P195S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P195S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	195	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AAGTTTTCTGGGTTTAACATG	0.468000													175	694					0	0	0.014410	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422814	42422814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:42422814C>T	ENST00000328823.9	+	6	590	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P113S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	187	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGCCCCACCTCCCGGATACGG	0.517000													131	375					0	0	0.014410	0	0
TRPC7	57113	broad.mit.edu	37	5	135602062	135602062	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:135602062G>A	ENST00000513104.1	-	5	1473	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	TRPC7_ENST00000426057.2_Silent_p.I281I|TRPC7_ENST00000355180.3_Silent_p.I336I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	397					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCCAAGAAGATTGTAAAAG	0.403000													22	30					0	0	0.012319	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078291	70078291	+	Splice_Site	SNP	C	C	T	rs145988491		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:70078291C>T	ENST00000446444.1	-	2	878	c.870_splice	c.e2+1	p.K290_splice	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	290					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTATGTTTACCTTAGGTAGGG	0.358000													7	68					0	0	0.001984	0	0
JAG2	3714	broad.mit.edu	37	14	105612287	105612287	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:105612287A>G	ENST00000331782.3	-	23	3136	c.2733T>C	c.(2731-2733)tgT>tgC	p.C911C	JAG2_ENST00000347004.2_Silent_p.C873C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	911	VWFC.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGGCCAGCAGACAAGGCTTCC	0.677000													4	12					0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38704843	38704843	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38704843G>A	ENST00000359357.3	+	4	366	c.111_splice	c.e4-1	p.E38_splice	DNAH8_ENST00000449981.2_Splice_Site_p.E255_splice|DNAH8_ENST00000441566.1_Splice_Site_p.E38_splice					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCCTTTCAGGAAGCGCTCTT	0.343000													25	77					0	0	0.003330	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046371	42046371	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:42046371C>T	ENST00000372584.1	-	3	5112	c.4098G>A	c.(4096-4098)acG>acA	p.T1366T	HIVEP3_ENST00000372583.1_Silent_p.T1366T|HIVEP3_ENST00000429157.2_Silent_p.T1366T|HIVEP3_ENST00000247584.5_Silent_p.T1366T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1366					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACATACAGTCGTCCCCTTTG	0.547000													47	148					0	0	0.011902	0	0
AKAP4	8852	broad.mit.edu	37	X	49957961	49957961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:49957961G>A	ENST00000376056.2	-	5	1526	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.S459F|AKAP4_ENST00000358526.2_Missense_Mutation_p.S468F|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	468					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTCATGGTGGAGAATTCAAG	0.438000													54	69					0	0	0.014410	0	0
CYTIP	9595	broad.mit.edu	37	2	158272206	158272206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:158272206C>T	ENST00000264192.3	-	8	1184	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	CYTIP_ENST00000540637.1_Missense_Mutation_p.E249K	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	355					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CGACTTTCTTCCTCTTCCACA	0.473000													19	48					0	0	0.008871	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457663	66457663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:66457663G>A	ENST00000533211.1	-	28	5988	c.5657C>T	c.(5656-5658)gCc>gTc	p.A1886V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1886V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1886V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1886					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGGCCTCGGCCACGGCCTG	0.677000													48	52					0	0	0.014410	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579937	35579937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:35579937C>T	ENST00000373330.1	+	11	2680	c.2506C>T	c.(2506-2508)Cat>Tat	p.H836Y	ZMYM1_ENST00000359858.4_Missense_Mutation_p.H836Y|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	836						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TATAGCAAGCCATTCTTCAAA	0.353000													21	91					0	0	0.008871	0	0
MYH2	4620	broad.mit.edu	37	17	10426966	10426966	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10426966C>T	ENST00000245503.5	-	37	5703	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.E1773E|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1773					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						TCTTCAGCTCCTCAGCCATCA	0.493000													56	92					0	0	0.014410	0	0
SLC25A13	10165	broad.mit.edu	37	7	95822397	95822397	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:95822397G>A	ENST00000416240.2	-	6	757	c.567C>T	c.(565-567)acC>acT	p.T189T	SLC25A13_ENST00000265631.5_Silent_p.T189T|SLC25A13_ENST00000542654.1_Silent_p.T81T	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	189	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGGGGCGGATGGTGACCATGA	0.458000													18	61					0	0	0.008871	0	0
ZNF536	9745	broad.mit.edu	37	19	31039215	31039215	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:31039215T>A	ENST00000355537.3	+	4	2836	c.2689T>A	c.(2689-2691)Ttc>Atc	p.F897I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCACCCACTTCTCTGAGAT	0.517000													104	156					0	0	0.014410	0	0
HUWE1	10075	broad.mit.edu	37	X	53566728	53566728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:53566728G>A	ENST00000342160.3	-	74	11979	c.11522C>T	c.(11521-11523)cCa>cTa	p.P3841L	HUWE1_ENST00000262854.6_Missense_Mutation_p.P3841L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3841					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAACTCAGGTGGTCTTTCTTC	0.522000													23	24					0	0	0.002780	0	0
LMX1A	4009	broad.mit.edu	37	1	165183036	165183036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:165183036C>T	ENST00000342310.3	-	5	893	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	LMX1A_ENST00000294816.2_Missense_Mutation_p.E171K|LMX1A_ENST00000367893.4_Missense_Mutation_p.E171K	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGACTTTCTTCATCATCACTT	0.498000													122	192					0	0	0.014410	0	0
NEGR1	257194	broad.mit.edu	37	1	72241978	72241978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:72241978G>A	ENST00000357731.4	-	3	651	c.412C>T	c.(412-414)Cct>Tct	p.P138S	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.P136S|NEGR1_ENST00000306821.3_Missense_Mutation_p.P10S	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	138					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ATCTTAGGAGGAACTGAAATG	0.353000													5	17					0	0	0.001168	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872320	51872320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:51872320G>A	ENST00000371497.5	+	2	3210	c.2323G>A	c.(2323-2325)Gcc>Acc	p.A775T	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A772T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A772T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	775					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)			AAGCAAGAAAGCCGAGTCCTC	0.562000													69	165					0	0	0.014410	0	0
CASS4	57091	broad.mit.edu	37	20	55033727	55033727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:55033727C>T	ENST00000371336.3	+	6	2486	c.2285C>T	c.(2284-2286)gCc>gTc	p.A762V	CASS4_ENST00000360314.3_Missense_Mutation_p.A762V|CASS4_ENST00000434344.1_Missense_Mutation_p.A325V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	762					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCCAGCCCTGCCGCGCTGGGG	0.637000													12	36					0	0	0.010729	0	0
FBXO21	23014	broad.mit.edu	37	12	117612502	117612502	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:117612502G>A	ENST00000427718.2	-	5	767	c.693C>T	c.(691-693)acC>acT	p.T231T	FBXO21_ENST00000330622.5_Silent_p.T231T|FBXO21_ENST00000549689.1_5'UTR	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	231					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGCCCCGAAGGGTTTTGCAAA	0.478000													18	62					0	0	0.006122	0	0
ANK3	288	broad.mit.edu	37	10	61835056	61835056	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:61835056C>T	ENST00000280772.1	-	37	5774	c.5583G>A	c.(5581-5583)acG>acA	p.T1861T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1861	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATGTGTCTCCGTAGTCAATG	0.423000													34	57					0	0	0.003755	0	0
NLRP4	147945	broad.mit.edu	37	19	56369135	56369135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56369135G>A	ENST00000301295.6	+	3	798	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E126K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E51K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	126							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTTTGAGGAGGAAGTCAAGCA	0.468000													58	79					0	0	0.014410	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817327	26817327	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:26817327C>T	ENST00000444914.3	+	3	654	c.234C>T	c.(232-234)atC>atT	p.I78I	SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	aatGGCAGATCATTCAGAGAC	0.502000													21	76					0	0	0.008871	0	0
ADAM2	2515	broad.mit.edu	37	8	39644532	39644532	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:39644532C>T	ENST00000265708.4	-	10	955	c.852G>A	c.(850-852)ggG>ggA	p.G284G	ADAM2_ENST00000347580.4_Silent_p.G265G|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.G284G	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	284	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CACACATCTTCCCTTGAAAGG	0.294000													7	34					0	0	0.001984	0	0
BTBD16	118663	broad.mit.edu	37	10	124094426	124094426	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:124094426C>T	ENST00000368994.2	+	14	1449	c.1198C>T	c.(1198-1200)Cta>Tta	p.L400L	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Silent_p.L399L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	399										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AACGATTGCTCTATATGGATT	0.363000													63	89					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	8994510	8994510	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:8994510G>A	ENST00000397910.4	-	64	41585	c.41382C>T	c.(41380-41382)acC>acT	p.T13794T	MUC16_ENST00000380951.5_Silent_p.T435T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13796	SEA 12.			Missing (in Ref. 3; AAK74120).	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						TGAAGTTGAGGGTGAATAGTA	0.453000													33	108					0	0	0.012213	0	0
SPANXN5	494197	broad.mit.edu	37	X	52826386	52826386	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:52826386C>T	ENST00000375511.3	-	1	755	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	1										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TGGGCTTTTCCATGATTCTGG	0.473000													33	97					0	0	0.005524	0	0
OR2F1	26211	broad.mit.edu	37	7	143657596	143657596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143657596C>T	ENST00000392899.1	+	1	570	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GATCACATATCCTGTGAACTC	0.502000													22	75					0	0	0.014323	0	0
TBC1D19	55296	broad.mit.edu	37	4	26744166	26744166	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:26744166C>G	ENST00000264866.4	+	18	1542	c.1264C>G	c.(1264-1266)Ctt>Gtt	p.L422V	TBC1D19_ENST00000511789.1_Missense_Mutation_p.L357V	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	422	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGAAACTCTTCTTCAAACTTA	0.328000													22	168					0	0	0.005443	0	0
FANK1	92565	broad.mit.edu	37	10	127685183	127685183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:127685183G>A	ENST00000368695.1	+	5	567	c.445G>A	c.(445-447)Gga>Aga	p.G149R	FANK1_ENST00000368693.1_Missense_Mutation_p.G155R	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	155						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TGCCCAGAAAGGATACACCAG	0.403000													121	163					0	0	0.014410	0	0
MNDA	4332	broad.mit.edu	37	1	158817557	158817557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158817557G>A	ENST00000368141.4	+	6	1288	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	343	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.D343Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGAAATACAGGATAATACAGG	0.373000													48	65					0	0	0.014410	0	0
GREB1	9687	broad.mit.edu	37	2	11770145	11770145	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:11770145C>T	ENST00000381486.2	+	26	4821	c.4521C>T	c.(4519-4521)ttC>ttT	p.F1507F	GREB1_ENST00000234142.5_Silent_p.F1507F|GREB1_ENST00000396123.1_Silent_p.F505F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1507						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCTGCACTTCATCATCCCCA	0.567000													64	135					0	0	0.014410	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632399	156632399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:156632399C>T	ENST00000296518.7	+	6	1291	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S361L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S361L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S361L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S103L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S361L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S361L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	361					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAAAAATCTTCAAGGGTAAGG	0.338000													5	57					0	0	0.000602	0	0
COL7A1	1294	broad.mit.edu	37	3	48619788	48619788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48619788C>T	ENST00000328333.8	-	46	4710	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K	COL7A1_ENST00000454817.1_Missense_Mutation_p.E1535K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1535	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGACCAGGCTCCCCCTGTGGA	0.607000													142	197					0	0	0.014410	0	0
ESR1	2099	broad.mit.edu	37	6	152420037	152420037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:152420037C>T	ENST00000440973.1	+	10	2094	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L	ESR1_ENST00000338799.5_Missense_Mutation_p.S575L|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.S575L|ESR1_ENST00000443427.1_Missense_Mutation_p.S575L|ESR1_ENST00000406599.1_Missense_Mutation_p.S314L|ESR1_ENST00000456483.2_Missense_Mutation_p.S463L	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	575	Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGCTCTACTTCATCGCATTCC	0.602000													22	47					0	0	0.003330	0	0
FAT4	79633	broad.mit.edu	37	4	126411285	126411285	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:126411285G>A	ENST00000394329.3	+	17	13321	c.13308G>A	c.(13306-13308)caG>caA	p.Q4436Q	FAT4_ENST00000335110.5_Silent_p.Q2677Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4436	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCCGTGCCAGAATGGTGGCA	0.602000													44	77					0	0	0.008740	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:36039616C>T	ENST00000282507.3	-	5	1139	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_ENST00000545528.1_Silent_p.V44V|UGT3A2_ENST00000513300.1_Silent_p.V312V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000													42	101					0	0	0.010771	0	0
CCDC172	374355	broad.mit.edu	37	10	118100268	118100268	+	Missense_Mutation	SNP	C	C	T	rs117513116		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:118100268C>T	ENST00000333254.3	+	4	439	c.188C>T	c.(187-189)tCc>tTc	p.S63F	CCDC172_ENST00000497093.1_Intron	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		TTTGAAAAATCCTTCTTCTTA	0.294000													6	16					0	0	0.001168	0	0
IGSF1	3547	broad.mit.edu	37	X	130419851	130419851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:130419851G>A	ENST00000370904.1	-	10	1152	c.242C>T	c.(241-243)tCa>tTa	p.S81L	IGSF1_ENST00000370910.1_Missense_Mutation_p.S81L|IGSF1_ENST00000370900.1_Missense_Mutation_p.S90L|IGSF1_ENST00000370903.3_Missense_Mutation_p.S90L|IGSF1_ENST00000370901.4_Missense_Mutation_p.S90L|IGSF1_ENST00000361420.3_Missense_Mutation_p.S90L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	90	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATAAGGAATGAAACTTGGAA	0.512000													78	129					0	0	0.014410	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594140	140594140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140594140C>T	ENST00000341948.4	+	1	632	c.445C>T	c.(445-447)Cct>Tct	p.P149S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCAGTCCTCCTGGGACTAC	0.423000													74	115					0	0	0.014410	0	0
NPSR1	387129	broad.mit.edu	37	7	34851439	34851439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:34851439C>T	ENST00000360581.1	+	4	570	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	NPSR1_ENST00000381539.3_Missense_Mutation_p.H148Y|NPSR1_ENST00000531252.1_Missense_Mutation_p.H137Y|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Missense_Mutation_p.H148Y	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	148						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGACAGATACCATGCCATCGT	0.483000													47	113					0	0	0.014410	0	0
PRPF39	55015	broad.mit.edu	37	14	45581633	45581633	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:45581633C>G	ENST00000355765.6	+	11	1855	c.1685C>G	c.(1684-1686)cCt>cGt	p.P562R		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	562					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GGTTCATTACCTATTAAAATG	0.279000													6	29					0	0	0.001984	0	0
COL5A3	50509	broad.mit.edu	37	19	10114820	10114820	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10114820C>T	ENST00000264828.3	-	5	681	c.594_splice	c.e5-1	p.G199_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	199	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTGAATGTCTCCCTGGGGGTT	0.622000													26	78					0	0	0.004656	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457799	5457799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:5457799C>T	ENST00000296564.7	+	12	1268	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	349	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCAGTGCCCTCGCCCCCTCCG	0.448000													119	270					0	0	0.014410	0	0
CLCA2	9635	broad.mit.edu	37	1	86898134	86898134	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:86898134A>T	ENST00000370565.4	+	5	829	c.667A>T	c.(667-669)Aaa>Taa	p.K223*		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	223					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TAAGCTTTTTAAAGAAGGATG	0.363000													100	104					0	0	0.014410	0	0
SULT6B1	391365	broad.mit.edu	37	2	37406707	37406707	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:37406707G>A	ENST00000535679.1	-	4	422	c.423C>T	c.(421-423)aaC>aaT	p.N141N	SULT6B1_ENST00000407963.1_Silent_p.N103N|SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Silent_p.N103N			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	141						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TATCTTTAGGGTTTCGAAATA	0.353000													45	120					0	0	0.013114	0	0
SEPT14	346288	broad.mit.edu	37	7	55872951	55872951	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:55872951C>T	ENST00000388975.3	-	9	1235	c.1119_splice	c.e9+1	p.E373_splice		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	373					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTACTAACCTCTTTTTCAG	0.338000													7	78					0	0	0.004482	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555409	125555409	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:125555409C>T	ENST00000522532.1	+	2	230	c.183C>T	c.(181-183)acC>acT	p.T61T	NDUFB9_ENST00000518008.1_Silent_p.T61T|NDUFB9_ENST00000517367.1_Silent_p.T50T|NDUFB9_ENST00000276689.3_Silent_p.T61T			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	61					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CGAAGGCCACCCAGCTGCTGA	0.473000													23	82					0	0	0.014323	0	0
PTAR1	375743	broad.mit.edu	37	9	72333278	72333278	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:72333278G>A	ENST00000377200.5	-	5	1035	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	PTAR1_ENST00000340434.4_Silent_p.L397L			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	397					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AAAGTAACCAGCCATTTCCTG	0.428000													3	23					0	0	0.004672	0	0
DENND1A	57706	broad.mit.edu	37	9	126219702	126219702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:126219702G>A	ENST00000373624.2	-	15	1312	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.R113*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.R371*|DENND1A_ENST00000373618.1_Nonsense_Mutation_p.R339*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.R341*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.R339*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	371	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGATCTAATCGACCATCAATA	0.428000													51	130					0	0	0.014410	0	0
STT3A	3703	broad.mit.edu	37	11	125476198	125476198	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:125476198C>T	ENST00000392708.4	+	8	777	c.618C>T	c.(616-618)gtC>gtT	p.V206V	STT3A_ENST00000529196.1_Silent_p.V206V|STT3A_ENST00000531491.1_Silent_p.V114V	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	206					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CATCATAGGTCTCGTCATGGG	0.463000													52	103					0	0	0.014410	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161146971	161146971	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:161146971G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						GGAGCCAGTCGAACATATGCC	0.418000													31	117					0	0	0.003755	0	0
SLC24A4	123041	broad.mit.edu	37	14	92953042	92953042	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:92953042G>A	ENST00000532405.1	+	14	1681	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	SLC24A4_ENST00000393265.2_Silent_p.P421P|SLC24A4_ENST00000531433.1_Silent_p.P466P|SLC24A4_ENST00000298877.1_Silent_p.P468P|SLC24A4_ENST00000351924.5_Silent_p.P449P			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	485						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TTGGGATCCCGGATGTCATCA	0.488000													20	47					0	0	0.002780	0	0
ADAM22	53616	broad.mit.edu	37	7	87811273	87811273	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:87811273G>A	ENST00000398204.4	+	28	2725	c.2401_splice	c.e28-1	p.G801_splice	ADAM22_ENST00000398201.4_Splice_Site_p.G837_splice|ADAM22_ENST00000398209.3_Splice_Site_p.G801_splice|ADAM22_ENST00000315984.7_Splice_Site_p.G801_splice|ADAM22_ENST00000265727.7_Splice_Site_p.G837_splice	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	837					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTTTTCAGGTAACCTGGGA	0.398000													15	53					0	0	0.004990	0	0
ADAM33	80332	broad.mit.edu	37	20	3655422	3655422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:3655422C>T	ENST00000356518.2	-	5	649	c.408G>A	c.(406-408)atG>atA	p.M136I	ADAM33_ENST00000350009.2_Missense_Mutation_p.M136I|ADAM33_ENST00000379861.4_Missense_Mutation_p.M136I	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	136					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GAGCTCACCTCATCCCAGAGC	0.632000													32	85					0	0	0.003755	0	0
ADCY10	55811	broad.mit.edu	37	1	167852757	167852757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:167852757G>A	ENST00000367848.1	-	9	1159	c.662C>T	c.(661-663)gCc>gTc	p.A221V	ADCY10_ENST00000545172.1_Missense_Mutation_p.A160V|ADCY10_ENST00000367851.4_Missense_Mutation_p.A313V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	313					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCCTGGATGGCTGGGCCTAT	0.443000													50	196					0	0	0.014410	0	0
NCR1	9437	broad.mit.edu	37	19	55417935	55417935	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:55417935A>G	ENST00000594765.1	+	3	150	c.125A>G	c.(124-126)gAa>gGa	p.E42G	NCR1_ENST00000598576.1_Missense_Mutation_p.E30G|NCR1_ENST00000338835.5_Missense_Mutation_p.E42G|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.E42G|NCR1_ENST00000291890.4_Missense_Mutation_p.E42G|NCR1_ENST00000357397.5_Intron			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GTTCCAAAGGAAAAGCAAGTG	0.542000													63	107					0	0	0.014410	0	0
FOXA2	3170	broad.mit.edu	37	20	22563277	22563277	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:22563277G>A	ENST00000419308.2	-	2	787	c.585C>T	c.(583-585)ttC>ttT	p.F195F	FOXA2_ENST00000377115.4_Silent_p.F195F|FOXA2_ENST00000319993.4_Silent_p.F201F	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	195					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCTGCCGGTAGAAGGGGAAGA	0.597000													48	147					0	0	0.014410	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558517	52558517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:52558517G>A	ENST00000307076.4	-	14	1932	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	NT5DC2_ENST00000459839.1_Missense_Mutation_p.P523L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.P452L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.P548L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	511							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ACCAAGGAAGGGGGTCTTCAT	0.612000													54	288					0	0	0.014410	0	0
KIF20B	9585	broad.mit.edu	37	10	91518632	91518632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:91518632C>T	ENST00000416354.1	+	27	4835	c.4763C>T	c.(4762-4764)tCt>tTt	p.S1588F	KIF20B_ENST00000260753.4_Missense_Mutation_p.S1518F|KIF20B_ENST00000371728.3_Missense_Mutation_p.S1558F|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1558F|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1558	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCAGAGACTTCTAAAATAGTC	0.289000													4	14					0	0	0.000602	0	0
OR10H2	26538	broad.mit.edu	37	19	15839200	15839200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15839200C>T	ENST00000305899.3	+	1	367	c.347C>T	c.(346-348)aCc>aTc	p.T116I		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TTCCTGCTCACCGTCATGGGC	0.652000													30	125					0	0	0.011902	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131052	38131052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38131052G>A	ENST00000406386.3	+	9	4964	c.4709G>A	c.(4708-4710)gGa>gAa	p.G1570E	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1570					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGGGCACCAGGAGAGGGGGTC	0.692000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	147					0	0	0.014410	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826195	83826195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:83826195G>A	ENST00000299633.4	-	4	1034	c.431C>T	c.(430-432)tCa>tTa	p.S144L		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		144					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTTCCGTTTTGAGCCTGCTTT	0.338000													20	64					0	0	0.002780	0	0
CASD1	64921	broad.mit.edu	37	7	94167028	94167028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:94167028C>T	ENST00000297273.4	+	9	1375	c.1088C>T	c.(1087-1089)tCa>tTa	p.S363L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	363						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTGTGTCTTCATTAGAAATA	0.338000													25	77					0	0	0.005443	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816878	69816878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69816878C>T	ENST00000251566.4	-	1	631	c.601G>A	c.(601-603)Gac>Aac	p.D201N	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	201						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCATTCTGTCTGTTAGTCCT	0.408000													4	15					0	0	0.000602	0	0
NEO1	4756	broad.mit.edu	37	15	73418859	73418859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:73418859C>T	ENST00000339362.5	+	5	1273	c.826C>T	c.(826-828)Cct>Tct	p.P276S	NEO1_ENST00000560262.1_Missense_Mutation_p.P276S|NEO1_ENST00000261908.6_Missense_Mutation_p.P276S|NEO1_ENST00000558964.1_Missense_Mutation_p.P276S			Q92859	NEO1_HUMAN	neogenin 1	276	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTCAGGACTTCCTACTCCAAC	0.433000													24	61					0	0	0.003954	0	0
HGSNAT	138050	broad.mit.edu	37	8	43025809	43025809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:43025809C>T	ENST00000458501.2	+	7	799	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	HGSNAT_ENST00000379644.4_Missense_Mutation_p.R239C			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	267					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCTGCCGCCCCGCCTCCGCAG	0.567000													6	13					0	0	0.001168	0	0
CLIP2	7461	broad.mit.edu	37	7	73790984	73790984	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:73790984C>T	ENST00000223398.6	+	10	2580	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	CLIP2_ENST00000395060.1_Silent_p.F751F|CLIP2_ENST00000361545.5_Silent_p.F716F	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	751						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CTATCGAGTTCCTCAAGGAGC	0.637000													31	68					0	0	0.004878	0	0
CSMD1	64478	broad.mit.edu	37	8	2855633	2855633	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2855633G>A	ENST00000520002.1	-	55	8835	c.8280C>T	c.(8278-8280)gtC>gtT	p.V2760V	CSMD1_ENST00000537824.1_Silent_p.V2759V|CSMD1_ENST00000542608.1_Silent_p.V2701V|CSMD1_ENST00000602557.1_Silent_p.V2760V|CSMD1_ENST00000602723.1_Silent_p.V2702V|CSMD1_ENST00000400186.3_Silent_p.V2702V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2760	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAAATTCACGACATCATTCA	0.557000													26	66					0	0	0.004656	0	0
RNF32	140545	broad.mit.edu	37	7	156437203	156437203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:156437203C>T	ENST00000392741.2	+	2	114	c.26C>T	c.(25-27)tCt>tTt	p.S9F	RNF32_ENST00000317955.5_Missense_Mutation_p.S9F|RNF32_ENST00000343665.4_Missense_Mutation_p.S9F|RNF32_ENST00000392743.2_Missense_Mutation_p.S9F|RNF32_ENST00000311822.8_Missense_Mutation_p.S9F|RNF32_ENST00000392740.1_Missense_Mutation_p.S9F|RNF32_ENST00000432459.2_Missense_Mutation_p.S9F|RNF32_ENST00000405335.1_Missense_Mutation_p.S9F			Q9H0A6	RNF32_HUMAN	ring finger protein 32	9						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGTCACTCATCTAAGAAAGAT	0.333000													27	106					0	0	0.009535	0	0
LST3	0	broad.mit.edu	37	12	21205142	21205142	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21205142C>T	ENST00000381541.3	+	10	1509	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	SLCO1B7_ENST00000421593.2_Silent_p.L435L|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.L482L																							AATAACTTACCTGTCACCTTG	0.378000													9	38					0	0	0.004482	0	0
MYH6	4624	broad.mit.edu	37	14	23858111	23858111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23858111C>T	ENST00000405093.3	-	29	4202	c.4132G>A	c.(4132-4134)Gag>Aag	p.E1378K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1378K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1378					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCGTCCGTCTCATACTTGGTC	0.622000													46	139					0	0	0.014410	0	0
PLXNB1	5364	broad.mit.edu	37	3	48452431	48452431	+	Silent	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48452431T>C	ENST00000358536.4	-	29	5531	c.5262A>G	c.(5260-5262)ctA>ctG	p.L1754L	PLXNB1_ENST00000358459.4_Silent_p.L1571L|PLXNB1_ENST00000448774.2_Silent_p.L365L|PLXNB1_ENST00000456774.1_Silent_p.L1571L|PLXNB1_ENST00000296440.6_Silent_p.L1754L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1754					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGCCAATAGTGCATTCA	0.582000													5	75					0	0	0.000602	0	0
FCRL2	79368	broad.mit.edu	37	1	157736650	157736650	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:157736650A>T	ENST00000361516.3	-	7	1322	c.1274T>A	c.(1273-1275)aTa>aAa	p.I425K	FCRL2_ENST00000392274.3_Missense_Mutation_p.I425K|FCRL2_ENST00000368181.4_Missense_Mutation_p.I141K|FCRL2_ENST00000469986.1_Missense_Mutation_p.I172K	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	425					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACAACCTGATATCTTGTGGAA	0.388000													42	66					0	0	0.009718	0	0
RADIL	55698	broad.mit.edu	37	7	4876171	4876171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:4876171C>T	ENST00000399583.3	-	3	788	c.601G>A	c.(601-603)Ggg>Agg	p.G201R	RADIL_ENST00000536091.1_Missense_Mutation_p.G201R|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	201					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGGGCATCCCCCAGGGCCGGG	0.682000													9	52					0	0	0.004482	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:117311214C>T	ENST00000369478.3	+	5	973	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	289	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCTGGTCATCGTTCCCAGGC	0.587000													76	82					0	0	0.014410	0	0
LUZP2	338645	broad.mit.edu	37	11	24759776	24759776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:24759776G>A	ENST00000336930.6	+	4	327	c.261G>A	c.(259-261)atG>atA	p.M87I	LUZP2_ENST00000533227.1_Start_Codon_SNP_p.M1I|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	87						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAGAAGAAATGAAGTCTCTTC	0.353000													9	22					0	0	0.006214	0	0
TRIM37	4591	broad.mit.edu	37	17	57089803	57089803	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57089803T>C	ENST00000376149.3	-	22	3024	c.2215A>G	c.(2215-2217)Aat>Gat	p.N739D	TRIM37_ENST00000393066.3_Missense_Mutation_p.N861D|TRIM37_ENST00000262294.7_Missense_Mutation_p.N861D|TRIM37_ENST00000393065.2_Missense_Mutation_p.N827D			O94972	TRI37_HUMAN	tripartite motif containing 37	861						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCTTTAGCATTAGCCCTCAAA	0.383000									Mulibrey Nanism				13	49					0	0	0.003163	0	0
CPA3	1359	broad.mit.edu	37	3	148583291	148583291	+	Missense_Mutation	SNP	G	G	A	rs145828911		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:148583291G>A	ENST00000296046.3	+	2	152	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	34					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.E34*(1)|p.E34K(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCCCAGGATGAAAAACAAGC	0.383000													34	53					0	0	0.005524	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2413892	2413892	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:2413892C>T	ENST00000332578.3	+	9	1347	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	449					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGGCTCCTGCCCCTGCCGCCC	0.662000													10	38					0	0	0.013537	0	0
EEA1	8411	broad.mit.edu	37	12	93221822	93221822	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:93221822G>A	ENST00000322349.8	-	12	1534	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	424	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTGTCTCCAGAAGTTTGCTA	0.378000													28	99					0	0	0.009535	0	0
USH2A	7399	broad.mit.edu	37	1	215916657	215916657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:215916657G>A	ENST00000366943.2	-	59	11796	c.11410C>T	c.(11410-11412)Cct>Tct	p.P3804S	USH2A_ENST00000307340.3_Missense_Mutation_p.P3804S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3804	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3804S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTCCACAGGAATTTCGGGG	0.403000										HNSCC(13;0.011)			51	84					0	0	0.014410	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654514	31654514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:31654514C>T	ENST00000340345.4	-	1	762	c.737G>A	c.(736-738)aGt>aAt	p.S246N		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	246	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TCTGCTACCACTGCACAAATA	0.443000													32	78					0	0	0.009535	0	0
ZNF282	8427	broad.mit.edu	37	7	148895756	148895756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148895756G>A	ENST00000262085.3	+	2	602	c.497G>A	c.(496-498)aGg>aAg	p.R166K	ZNF282_ENST00000479907.1_Missense_Mutation_p.R166K	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	166					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCTGCAGAGGCGGCTGGAG	0.637000													69	176					0	0	0.014410	0	0
CHI3L1	1116	broad.mit.edu	37	1	203152894	203152894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203152894G>A	ENST00000255409.3	-	5	465	c.340C>T	c.(340-342)Cag>Tag	p.Q114*		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	114					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CGGCGACTCTGGGTGTTGGAG	0.547000													40	117					0	0	0.014410	0	0
CD1C	911	broad.mit.edu	37	1	158262102	158262102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158262102C>T	ENST00000368170.3	+	3	836	c.557C>T	c.(556-558)cCc>cTc	p.P186L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	186					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.P186H(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGCACTTGCCCCCGATTTCTC	0.453000													103	433					0	0	0.014410	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687318	151687318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:151687318G>A	ENST00000325144.4	-	3	1023	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTGCTACAGAGAGTCAGGGGG	0.542000													60	83					0	0	0.014410	0	0
F8	2157	broad.mit.edu	37	X	154175986	154175986	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:154175986C>T	ENST00000360256.4	-	13	2300	c.2100G>A	c.(2098-2100)tcG>tcA	p.S700S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTTTTCCATCGACATGAAGA	0.413000													61	135					0	0	0.014410	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939174	2939174	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2939174C>T	ENST00000378404.2	+	1	1129	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	308						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTACCCTGTTCCACGGGCTGG	0.597000													55	142					0	0	0.014410	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712039	222712039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:222712039C>T	ENST00000343410.6	-	5	1586	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	510					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTTGGGGATTCACAACCACGA	0.433000													90	223					0	0	0.014410	0	0
MYOF	26509	broad.mit.edu	37	10	95103648	95103648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:95103648C>T	ENST00000371501.4	-	38	4413	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	MYOF_ENST00000358334.5_Missense_Mutation_p.E1418K|MYOF_ENST00000359263.4_Missense_Mutation_p.E1431K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1431K			Q9NZM1	MYOF_HUMAN	myoferlin	1431					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTCCATTTCGATAACGATG	0.428000													45	70					0	0	0.014410	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54307284C>T	ENST00000324134.6	-	6	2675	c.2507G>A	c.(2506-2508)gGa>gAa	p.G836E	NLRP12_ENST00000351894.4_Missense_Mutation_p.G836E|NLRP12_ENST00000535162.1_Missense_Mutation_p.G836E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G837E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G836E|NLRP12_ENST00000391772.1_Missense_Mutation_p.G837E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G837E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G836E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	836					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGTGCATTTCCTGTCAGGTC	0.562000													32	34					0	0	0.008361	0	0
OR51A2	401667	broad.mit.edu	37	11	4976476	4976476	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4976476G>A	ENST00000380371.1	-	1	467	c.468C>T	c.(466-468)ctC>ctT	p.L156L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAACCAGGAGCATGCTCT	0.428000													12	135					0	0	0.006122	0	0
POLQ	10721	broad.mit.edu	37	3	121260236	121260236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:121260236G>A	ENST00000264233.5	-	3	562	c.434C>T	c.(433-435)cCc>cTc	p.P145L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	145	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAAACAAAGGGAAGAATAAA	0.378000								DNA polymerases (catalytic subunits)					188	325					0	0	0.014410	0	0
RASAL2	9462	broad.mit.edu	37	1	178389739	178389739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:178389739C>T	ENST00000448150.3	+	5	1422	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	RASAL2_ENST00000367649.3_Missense_Mutation_p.R220C|RASAL2_ENST00000462775.1_Missense_Mutation_p.R72C	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	72	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCCATCCCTTCGCAGTACAGA	0.413000													17	18					0	0	0.004990	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945797	46945797	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46945797G>A	ENST00000311124.4	-	5	1379	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	SLC19A1_ENST00000380010.4_Silent_p.I409I|SLC19A1_ENST00000567670.1_Silent_p.I409I|SLC19A1_ENST00000485649.2_Silent_p.I369I	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	409					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		TGGTCTTGACGATGGTGGCAA	0.577000													80	175					0	0	0.014410	0	0
WNK2	65268	broad.mit.edu	37	9	96009842	96009842	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:96009842C>T	ENST00000297954.4	+	7	1560	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	WNK2_ENST00000427277.2_Silent_p.F132F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.F506F|WNK2_ENST00000395477.2_Silent_p.F520F|WNK2_ENST00000349097.3_Silent_p.F132F			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	520					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTGGATTCTTCCACGAGAGTG	0.592000													8	30					0	0	0.003080	0	0
MTMR8	55613	broad.mit.edu	37	X	63557241	63557241	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:63557241G>A	ENST00000374852.3	-	9	1075	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	MTMR8_ENST00000453546.1_Silent_p.V336V|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	336	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CAGAACAATGGACTAAGACAC	0.458000													6	11					0	0	0.001168	0	0
HECW2	57520	broad.mit.edu	37	2	197171330	197171330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:197171330C>T	ENST00000260983.2	-	13	2878	c.2696G>A	c.(2695-2697)cGa>cAa	p.R899Q	HECW2_ENST00000409111.1_Missense_Mutation_p.R543Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	899	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTTCTCCCGTCGGAAATCTAG	0.488000													21	50					0	0	0.010504	0	0
ZNF501	115560	broad.mit.edu	37	3	44776077	44776077	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:44776077G>T	ENST00000396048.2	+	3	601	c.164G>T	c.(163-165)tGt>tTt	p.C55F		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TGCAGTGAATGTGGAAGTTGT	0.403000													29	98					3.80469e-20	3.89215e-20	0.009535	1	0
SVEP1	79987	broad.mit.edu	37	9	113192643	113192643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113192643G>A	ENST00000401783.2	-	33	5777	c.5441C>T	c.(5440-5442)tCg>tTg	p.S1814L	SVEP1_ENST00000374469.1_Missense_Mutation_p.S1791L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1814	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCCTGACACGAAAATGTGAC	0.403000													11	26					0	0	0.008291	0	0
DNAH7	56171	broad.mit.edu	37	2	196753020	196753020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196753020C>T	ENST00000312428.6	-	33	5468	c.5368G>A	c.(5368-5370)Gtc>Atc	p.V1790I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1790	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAACAGGGACCATTCTGTCA	0.353000													15	34					0	0	0.004007	0	0
FAM211B	388886	broad.mit.edu	37	22	24982039	24982039	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:24982039G>A	ENST00000318753.8	-	4	786	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	255																	GGCTGGGGCAGGGAAGCCACA	0.667000													90	161					0	0	0.014410	0	0
CLCN1	1180	broad.mit.edu	37	7	143028384	143028384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143028384G>A	ENST00000343257.2	+	9	1126	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	347					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGACCTGAAGGAACTACCAGC	0.517000													51	104					0	0	0.014410	0	0
TSPAN18	90139	broad.mit.edu	37	11	44941473	44941473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:44941473G>A	ENST00000340160.3	+	7	777	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	TSPAN18_ENST00000520358.2_Missense_Mutation_p.E180K	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	180						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CTGCCGGAGGGAACCCCAAAG	0.597000													42	209					0	0	0.014410	0	0
ETAA1	54465	broad.mit.edu	37	2	67631707	67631707	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:67631707G>A	ENST00000272342.5	+	5	2023	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	631						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGGACAGTAAGACATCAGAAA	0.363000													52	155					0	0	0.014410	0	0
GMPPA	29926	broad.mit.edu	37	2	220370719	220370719	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220370719C>T	ENST00000358215.3	+	11	1287	c.918C>T	c.(916-918)tcC>tcT	p.S306S	GMPPA_ENST00000313597.5_Silent_p.S306S|GMPPA_ENST00000341142.3_Silent_p.S306S|GMPPA_ENST00000373917.3_Silent_p.S359S|GMPPA_ENST00000373908.1_Silent_p.S306S|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	306					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCAACGTCTCCATCGGGAAGG	0.592000													7	15					0	0	0.003080	0	0
ASTN1	460	broad.mit.edu	37	1	176863760	176863760	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:176863760G>A	ENST00000367654.2	-	17	2915	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	ASTN1_ENST00000424564.2_Silent_p.L960L|ASTN1_ENST00000367657.3_Silent_p.L960L|ASTN1_ENST00000361833.2_Silent_p.L960L			O14525	ASTN1_HUMAN	astrotactin 1	968					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACCTCCAGCAGAACCGGCTCA	0.612000													40	115					0	0	0.009718	0	0
SAG	6295	broad.mit.edu	37	2	234217864	234217864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234217864C>T	ENST00000409110.1	+	2	259	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	10					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)		ACCAGCAAGTCCGAACCGAAC	0.463000													15	33					0	0	0.006122	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086797	46086797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46086797G>A	ENST00000360770.3	-	1	47	c.7C>T	c.(7-9)Cat>Tat	p.H3Y	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	3						keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CAGCTGGTATGACACATGGTG	0.667000													13	30					0	0	0.002450	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993398	140993398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:140993398C>T	ENST00000285879.4	+	4	494	c.208C>T	c.(208-210)Cct>Tct	p.P70S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	70							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGACCTCCTGAGGG	0.582000										HNSCC(15;0.026)			67	113					0	0	0.014410	0	0
KRT37	8688	broad.mit.edu	37	17	39580464	39580464	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39580464C>T	ENST00000225550.3	-	1	311	c.312G>A	c.(310-312)gaG>gaA	p.E104E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	104	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TGGTCTCCTTCTCATGGCCAT	0.572000													36	142					0	0	0.005524	0	0
LRRC36	55282	broad.mit.edu	37	16	67412536	67412536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67412536C>T	ENST00000290940.7	+	8	1503	c.901C>T	c.(901-903)Cat>Tat	p.H301Y	LRRC36_ENST00000329956.6_Silent_p.L617L|LRRC36_ENST00000435835.3_Silent_p.L392L|LRRC36_ENST00000541146.1_Silent_p.L89L|LRRC36_ENST00000563189.1_Silent_p.L496L			Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	0										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGGAAAACCTCATTTTGTCAG	0.388000													17	68					0	0	0.004007	0	0
HYDIN	54768	broad.mit.edu	37	16	70926384	70926384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:70926384C>T	ENST00000393567.2	-	56	9447	c.9297G>A	c.(9295-9297)atG>atA	p.M3099I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3099										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGACTGAGATCATGGAATTTA	0.423000													11	62					0	0	0.001855	0	0
PKD1L1	168507	broad.mit.edu	37	7	47906088	47906088	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:47906088A>C	ENST00000289672.2	-	25	4071	c.4021T>G	c.(4021-4023)Tcc>Gcc	p.S1341A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1341	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGGTTGCAGGAGGCAGTTTTG	0.453000													56	76					0	0	0.014410	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069260	6069260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:6069260G>A	ENST00000381095.3	-	2	875	c.248C>T	c.(247-249)aCt>aTt	p.T83I	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T83I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T83I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.T83I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T83I	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	83					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCTCTCTCCAGTGGGGGGTGA	0.567000													34	50					0	0	0.004289	0	0
PAPPA	5069	broad.mit.edu	37	9	118997653	118997653	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:118997653G>A	ENST00000328252.3	+	7	2838	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	823					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGTCAGTGGGAAGAACATCT	0.522000													14	37					0	0	0.002450	0	0
MID1	4281	broad.mit.edu	37	X	10422960	10422960	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:10422960A>G	ENST00000317552.4	-	9	2005	c.1605T>C	c.(1603-1605)ttT>ttC	p.F535F	MID1_ENST00000453318.2_Silent_p.F535F|MID1_ENST00000380787.1_Silent_p.F535F|MID1_ENST00000380779.1_Silent_p.F535F|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380780.1_Silent_p.F535F|MID1_ENST00000380782.2_Silent_p.F535F|MID1_ENST00000380785.1_Silent_p.F535F	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	535	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACTATCAATAAACACATTTC	0.433000													4	70					0	0	0.000602	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20248809	20248809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:20248809C>T	ENST00000375116.3	-	3	325	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	90					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCCACGTTCGCTGACAGAG	0.577000													30	65					0	0	0.013726	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270573	1270573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1270573C>T	ENST00000348261.5	+	35	6889	c.6641C>T	c.(6640-6642)aCc>aTc	p.T2214I	CACNA1H_ENST00000565831.1_Missense_Mutation_p.T2208I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.T2208I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2214					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCGGCAGCACCACACTGAGG	0.716000													8	43					0	0	0.003080	0	0
AP5M1	55745	broad.mit.edu	37	14	57749720	57749720	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:57749720T>C	ENST00000261558.3	+	5	1563	c.1157T>C	c.(1156-1158)tTa>tCa	p.L386S	AP5M1_ENST00000431972.2_Missense_Mutation_p.L400S|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	386	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GAGAAAAGCTTATTGATCTGG	0.264000													44	124					0	0	0.014410	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588503	20588503	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:20588503G>A	ENST00000428453.1	-	0	4247																				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						CTTCCCTAGGGAAAACCTGAG	0.488000													4	22					0	0	0.009096	0	0
LRRK2	120892	broad.mit.edu	37	12	40745496	40745496	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:40745496C>T	ENST00000298910.7	+	44	6595	c.6537C>T	c.(6535-6537)ctC>ctT	p.L2179L		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2179					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAGGACAGCTCTCATTTCTTG	0.388000													19	62					0	0	0.014323	0	0
TMEM9	252839	broad.mit.edu	37	1	201104908	201104908	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:201104908G>A	ENST00000367330.1	-	5	951	c.435C>T	c.(433-435)ctC>ctT	p.L145L	TMEM9_ENST00000367333.1_Silent_p.L148L|TMEM9_ENST00000367332.1_Silent_p.L148L|TMEM9_ENST00000367329.1_Silent_p.L145L|TMEM9_ENST00000367334.5_Silent_p.L145L|TMEM9_ENST00000472411.1_5'UTR			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	145					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				GGGGTCCCCCGAGGGATGCAG	0.582000													22	47					0	0	0.002780	0	0
MUC3A	4584	broad.mit.edu	37	7	100610057	100610057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100610057G>A	ENST00000319509.7	+	10	2542	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						tcTAGACAAGGATACAAATTT	0.557000													37	185					0	0	0.007835	0	0
SELE	6401	broad.mit.edu	37	1	169701077	169701077	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169701077C>A	ENST00000333360.7	-	4	567	c.428G>T	c.(427-429)tGt>tTt	p.C143F	SELE_ENST00000367782.4_Missense_Mutation_p.C143F|SELE_ENST00000367776.1_Missense_Mutation_p.C143F|SELE_ENST00000367780.4_Missense_Mutation_p.C143F|SELE_ENST00000367781.4_Missense_Mutation_p.C143F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.C143F|SELE_ENST00000367777.1_Missense_Mutation_p.C143F|SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367779.4_Missense_Mutation_p.C143F|SELE_ENST00000367774.1_Missense_Mutation_p.C143F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	143	EGF-like.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGTATTGGTACAGGCAGCTAC	0.443000													9	43					2.17888e-05	2.21245e-05	0.006214	1	0
ANO1	55107	broad.mit.edu	37	11	69934154	69934154	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:69934154C>T	ENST00000355303.5	+	2	710	c.405C>T	c.(403-405)ctC>ctT	p.L135L	ANO1_ENST00000316296.5_Silent_p.L107L|ANO1_ENST00000398543.2_Silent_p.L19L|ANO1_ENST00000530676.1_Silent_p.L19L|ANO1_ENST00000538023.1_Silent_p.L135L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	135					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			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						AGGGCAACCTCCTGGAGGCGG	0.692000													4	6					0	0	0.000602	0	0
SMC1B	27127	broad.mit.edu	37	22	45802443	45802443	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:45802443C>T	ENST00000357450.4	-	4	512	c.513G>A	c.(511-513)aaG>aaA	p.K171K	SMC1B_ENST00000404354.3_Silent_p.K171K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	171					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACTTTCTTTTCTTTTCTTCAT	0.368000													78	105					0	0	0.014410	0	0
CPLX3	594855	broad.mit.edu	37	15	75122657	75122657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75122657G>A	ENST00000395018.4	+	3	596	c.439G>A	c.(439-441)Gat>Aat	p.D147N	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	147						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						CACACTGGGGGATCTCAAGCA	0.602000													21	55					0	0	0.010504	0	0
PRUNE2	158471	broad.mit.edu	37	9	79252384	79252384	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:79252384C>T	ENST00000428286.1	-	14	9039	c.7839G>A	c.(7837-7839)agG>agA	p.R2613R	PRUNE2_ENST00000443509.2_Silent_p.R220R|PRUNE2_ENST00000376718.3_Silent_p.R2971R|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Silent_p.R236R			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2971					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCCCTGGCATCCTCCTTCTTG	0.398000													57	134					0	0	0.014410	0	0
B4GALT4	8702	broad.mit.edu	37	3	118935165	118935165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:118935165G>A	ENST00000467604.1	-	7	1215	c.824C>T	c.(823-825)tCc>tTc	p.S275F	B4GALT4_ENST00000483209.1_Missense_Mutation_p.S275F|B4GALT4_ENST00000359213.3_Missense_Mutation_p.S275F|B4GALT4_ENST00000393765.2_Missense_Mutation_p.S275F|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	275					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CAGGGGCCGGGAAATTTTCAT	0.413000													19	110					0	0	0.008871	0	0
CLIP2	7461	broad.mit.edu	37	7	73768317	73768317	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:73768317G>A	ENST00000223398.6	+	4	1113	c.786G>A	c.(784-786)ggG>ggA	p.G262G	CLIP2_ENST00000395060.1_Silent_p.G262G|CLIP2_ENST00000361545.5_Silent_p.G262G	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	262	CAP-Gly 2.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGAATGATGGGGCGGTGGCGG	0.652000													101	224					0	0	0.014410	0	0
PLXNB1	5364	broad.mit.edu	37	3	48460685	48460685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48460685G>A	ENST00000358536.4	-	12	3069	c.2800C>T	c.(2800-2802)Cgg>Tgg	p.R934W	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R751W|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R751W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R934W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	934					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTAGCAGCCGGATTTCCCGC	0.612000													30	30					0	0	0.007291	0	0
MBD5	55777	broad.mit.edu	37	2	149226818	149226818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:149226818C>T	ENST00000407073.1	+	9	2303	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	MBD5_ENST00000404807.1_Missense_Mutation_p.P436S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	436						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTCCCTGTCCCCTTCTCCAGT	0.488000													19	43					0	0	0.007413	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33877671	33877671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:33877671C>T	ENST00000307296.3	+	8	1347	c.970C>T	c.(970-972)Cca>Tca	p.P324S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.P329S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	324	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TGATCGAGTTCCAGACCTTAA	0.383000													43	228					0	0	0.010771	0	0
SNRPC	6631	broad.mit.edu	37	6	34738142	34738142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:34738142C>T	ENST00000374017.3	+	4	675	c.388C>T	c.(388-390)Cct>Tct	p.P130S	SNRPC_ENST00000374018.1_Missense_Mutation_p.P68S|SNRPC_ENST00000244520.5_Missense_Mutation_p.P109S|SNRPC_ENST00000474635.1_3'UTR			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	109				HMP -> ICQ (in Ref. 2).	spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GATGGGCCCTCCTCCTCCTGG	0.502000													36	76					0	0	0.006999	0	0
COL18A1	80781	broad.mit.edu	37	21	46876046	46876046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46876046C>T	ENST00000359759.4	+	1	623	c.602C>T	c.(601-603)cCc>cTc	p.P201L	COL18A1_ENST00000355480.5_Missense_Mutation_p.P201L|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	201					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGGCAGGCCCTGGGCACCA	0.692000													23	100					0	0	0.004656	0	0
CSMD2	114784	broad.mit.edu	37	1	34076727	34076727	+	Missense_Mutation	SNP	G	G	A	rs140911773		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:34076727G>A	ENST00000373381.4	-	41	6433	c.6257C>T	c.(6256-6258)tCc>tTc	p.S2086F	CSMD2_ENST00000373377.1_Missense_Mutation_p.S185F|CSMD2_ENST00000373380.1_Missense_Mutation_p.S959F|CSMD2_ENST00000373388.2_Missense_Mutation_p.S185F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2046						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGAGGAGGGAGCTTGGAAG	0.557000													21	54					0	0	0.012319	0	0
PSD4	23550	broad.mit.edu	37	2	113958813	113958813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:113958813G>A	ENST00000245796.6	+	17	3187	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	PSD4_ENST00000441564.2_Missense_Mutation_p.E969K	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	998					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGTGGGAGGAGCAGCTGGG	0.652000													111	238					0	0	0.014410	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561170	11561170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:11561170G>A	ENST00000294484.6	+	2	259	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G41R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	41					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACCTGGGGCAGGGGGACAGTG	0.642000													34	113					0	0	0.003271	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303615	7303615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7303615C>T	ENST00000537408.1	+	15	3057	c.2519C>T	c.(2518-2520)cCt>cTt	p.P840L	CLSTN3_ENST00000266546.6_Missense_Mutation_p.P828L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	828					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CAGCCCCCGCCTGAGATGGCT	0.642000													16	35					0	0	0.003163	0	0
GLRB	2743	broad.mit.edu	37	4	158041795	158041795	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:158041795G>A	ENST00000264428.4	+	3	480	c.210G>A	c.(208-210)agG>agA	p.R70R	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.R70R|GLRB_ENST00000509282.1_Silent_p.R70R	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	70					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATGATCCCAGGATAAGACCAA	0.353000													4	25					0	0	0.009096	0	0
THPO	7066	broad.mit.edu	37	3	184094044	184094044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:184094044C>T	ENST00000204615.7	-	2	218	c.4G>A	c.(4-6)Gag>Aag	p.E2K	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.E2K|THPO_ENST00000421442.2_Missense_Mutation_p.E2K	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	2					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGTCAGCTCCATTCTGGCC	0.612000													111	439					0	0	0.014410	0	0
FCRL2	79368	broad.mit.edu	37	1	157737065	157737065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:157737065C>T	ENST00000361516.3	-	6	1166	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D	FCRL2_ENST00000392274.3_Missense_Mutation_p.G373D|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Missense_Mutation_p.G120D	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	373	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCCCCCAGGCCGTTGTTGGC	0.577000													49	131					0	0	0.014410	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334280	77334280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:77334280G>A	ENST00000282849.5	-	17	2972	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	852	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTATCCCTGGATTTTTGCCT	0.433000													16	65					0	0	0.003163	0	0
FDXR	2232	broad.mit.edu	37	17	72862348	72862348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72862348G>A	ENST00000455107.2	-	6	696	c.280C>T	c.(280-282)Cat>Tat	p.H94Y	FDXR_ENST00000442102.2_Missense_Mutation_p.H181Y|FDXR_ENST00000420580.2_Missense_Mutation_p.H98Y|FDXR_ENST00000413947.2_Missense_Mutation_p.H169Y|FDXR_ENST00000293195.5_Missense_Mutation_p.H138Y|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.H138Y|FDXR_ENST00000583917.1_Missense_Mutation_p.H139Y|FDXR_ENST00000582944.1_Missense_Mutation_p.H130Y|FDXR_ENST00000544854.1_Missense_Mutation_p.H86Y			P22570	ADRO_HUMAN	ferredoxin reductase	138					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	p.H138Y(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGGCCCGATGGTCCTCTGCC	0.657000													30	85					0	0	0.007291	0	0
CCDC102A	92922	broad.mit.edu	37	16	57555046	57555046	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:57555046C>T	ENST00000258214.2	-	4	1101	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	285										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GGCTGAGCTCCCCCTCTAGCT	0.567000													34	133					0	0	0.004878	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752679	14752679	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:14752679G>A	ENST00000358984.4	+	2	516	c.336_splice	c.e2+1	p.K112_splice	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Splice_Site_p.K112_splice	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	112										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTCTGATGAAGGTAAATAGTA	0.403000													5	15					0	0	0.000602	0	0
C1orf210	149466	broad.mit.edu	37	1	43748497	43748497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:43748497C>T	ENST00000523677.1	-	3	534	c.301G>A	c.(301-303)Gag>Aag	p.E101K	C1orf210_ENST00000423420.1_Missense_Mutation_p.E101K	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	101						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCCCCAGCTCGCCAGTCCCA	0.582000													47	133					0	0	0.014410	0	0
WDR52	55779	broad.mit.edu	37	3	113115566	113115566	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:113115566G>A	ENST00000393845.2	-	14	1644	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Silent_p.F526F	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	526										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GTGCTCCAGTGAAGTTTACCT	0.333000													26	21					0	0	0.003954	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659373	43659373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:43659373G>A	ENST00000374466.3	+	5	1375	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATCGTGGACGAGGACTAAAT	0.413000													29	34					0	0	0.007291	0	0
RHAG	6005	broad.mit.edu	37	6	49604371	49604371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:49604371G>A	ENST00000371175.4	-	1	181	c.155C>T	c.(154-156)cCt>cTt	p.P52L	RHAG_ENST00000229810.7_Missense_Mutation_p.P52L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	52					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTACTCACGAGGATATAACTC	0.373000													57	147					0	0	0.014410	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455308	70455308	+	Missense_Mutation	SNP	C	C	T	rs149562826		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:70455308C>T	ENST00000503640.1	-	6	1421	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	UGT2A1_ENST00000286604.4_Missense_Mutation_p.D456N|UGT2A1_ENST00000514019.1_Missense_Mutation_p.D622N|UGT2A2_ENST00000457664.2_Missense_Mutation_p.D465N|UGT2A1_ENST00000512704.1_Missense_Mutation_p.D412N	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	456					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACTGCTCGATCCAGGGGCTTT	0.438000													42	87					0	0	0.014410	0	0
BTNL3	10917	broad.mit.edu	37	5	180420152	180420152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:180420152G>A	ENST00000342868.6	+	2	573	c.389G>A	c.(388-390)cGg>cAg	p.R130Q		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	130					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TGGGAGCTGCGGGTGGCAGGT	0.443000													4	9					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179612008	179612008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179612008G>A	ENST00000360870.5	-	46	15341	c.15119C>T	c.(15118-15120)tCa>tTa	p.S5040L	TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1144	Ig-like 31.						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)			GGAAGGTGTTGAATATCTTTC	0.438000													11	22					0	0	0.013537	0	0
MRPL38	64978	broad.mit.edu	37	17	73898128	73898128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:73898128C>T	ENST00000309352.3	-	3	892	c.355G>A	c.(355-357)Gag>Aag	p.E119K	MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	119						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCGCTCCTCTTCCACATTG	0.627000													26	42					0	0	0.008361	0	0
KRT5	3852	broad.mit.edu	37	12	52908780	52908780	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52908780G>A	ENST00000252242.4	-	9	2109	c.1719C>T	c.(1717-1719)tcC>tcT	p.S573S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	573	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATTTGACGCTGGAGCTGCTAC	0.622000													37	86					0	0	0.005524	0	0
GREM2	64388	broad.mit.edu	37	1	240656759	240656759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:240656759G>A	ENST00000318160.4	-	2	283	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	6					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CAAGGACAGGGAAAGCTTCCA	0.552000													15	16					0	0	0.002450	0	0
ABCC9	10060	broad.mit.edu	37	12	21995392	21995392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21995392G>A	ENST00000261200.4	-	27	3328	c.3329C>T	c.(3328-3330)aCc>aTc	p.T1110I	ABCC9_ENST00000345162.2_Missense_Mutation_p.T1074I|ABCC9_ENST00000261201.4_Missense_Mutation_p.T1110I|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1110	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATTCCAAGGTTGGAGGGAT	0.418000													19	82					0	0	0.008871	0	0
CRISP2	7180	broad.mit.edu	37	6	49666122	49666122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:49666122C>T	ENST00000339139.4	-	7	606	c.370G>A	c.(370-372)Ggt>Agt	p.G124S		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	124						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GGTCCTACACCATAGACAAAA	0.408000													23	56					0	0	0.012319	0	0
DGKD	8527	broad.mit.edu	37	2	234360641	234360641	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234360641C>T	ENST00000264057.2	+	18	2211	c.2199C>T	c.(2197-2199)ccC>ccT	p.P733P	DGKD_ENST00000409813.3_Silent_p.P689P	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	733					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTCCTTACCCGGTGGCTCAG	0.498000													42	113					0	0	0.014410	0	0
COL24A1	255631	broad.mit.edu	37	1	86557961	86557961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:86557961G>A	ENST00000370571.2	-	6	2008	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P548S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	548					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCTCCAGGAACAGGTTGA	0.303000													19	97					0	0	0.012319	0	0
NXPH2	11249	broad.mit.edu	37	2	139428988	139428988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:139428988C>T	ENST00000272641.3	-	2	405	c.299G>A	c.(298-300)aGg>aAg	p.R100K		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	100	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TACTATTGGCCTCCGTTTAGT	0.448000													21	49					0	0	0.008871	0	0
CYP3A4	1576	broad.mit.edu	37	7	99377689	99377689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:99377689C>T	ENST00000336411.2	-	2	274	c.91G>A	c.(91-93)Gga>Aga	p.G31R	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	31					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTAAAAAGTCCATGTGAATGG	0.398000													14	47					0	0	0.004990	0	0
EPYC	1833	broad.mit.edu	37	12	91363872	91363872	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:91363872C>T	ENST00000261172.3	-	6	839	c.747G>A	c.(745-747)ttG>ttA	p.L249L		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	249					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GGATGTGGTCCAAGTTGTTAT	0.443000													40	103					0	0	0.009718	0	0
FCRLA	84824	broad.mit.edu	37	1	161681153	161681153	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161681153A>G	ENST00000367959.2	+	4	699	c.457A>G	c.(457-459)Atc>Gtc	p.I153V	FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.I136V|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.I147V|FCRLA_ENST00000367953.3_Missense_Mutation_p.I136V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.I130V|FCRLA_ENST00000367950.1_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	130	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGAATTCTCCATCACCGTGGT	0.592000													23	52					0	0	0.004656	0	0
WNK4	65266	broad.mit.edu	37	17	40947899	40947899	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:40947899A>G	ENST00000246914.5	+	16	3300	c.3279A>G	c.(3277-3279)gaA>gaG	p.E1093E		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1093					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)		ATGGGAAGGAACCCCAAGTTG	0.617000													28	71					0	0	0.008361	0	0
GPR26	2849	broad.mit.edu	37	10	125426514	125426514	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:125426514G>A	ENST00000284674.1	+	1	644	c.591G>A	c.(589-591)aaG>aaA	p.K197K		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	197					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGGTGCTCAAGGTGGCCCGCT	0.632000													12	8					0	0	0.010729	0	0
CAT	847	broad.mit.edu	37	11	34475378	34475378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:34475378C>T	ENST00000241052.4	+	6	705	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	206					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)	TCGGGGGATTCCAGATGGACA	0.343000													16	88					0	0	0.006122	0	0
ATRNL1	26033	broad.mit.edu	37	10	117061531	117061531	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:117061531G>A	ENST00000355044.3	+	17	2922	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	ATRNL1_ENST00000423111.2_Silent_p.E29E|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	932	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATGTCTAGAGTGGCAAACTG	0.393000													19	32					0	0	0.010504	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76592521	76592521	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:76592521A>T	ENST00000307431.8	+	25	4250	c.3865A>T	c.(3865-3867)Aaa>Taa	p.K1289*	CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.K1293*|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.K1217*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.K1241*|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1290					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGCTGTTCTGAAAAGTGAGCT	0.348000													15	23					0	0	0.003163	0	0
DDX60	55601	broad.mit.edu	37	4	169188759	169188759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:169188759G>A	ENST00000393743.3	-	22	3304	c.3013C>T	c.(3013-3015)Cca>Tca	p.P1005S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1005							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GCAGCACATGGGTGAAAATGA	0.294000													22	64					0	0	0.003330	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475497	140475497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140475497C>T	ENST00000194155.4	+	1	1271	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		375	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTTCAGATCCTGACTCCGG	0.433000													27	39					0	0	0.003954	0	0
GRM7	2917	broad.mit.edu	37	3	7188330	7188330	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:7188330C>T	ENST00000486284.1	+	2	985	c.711C>T	c.(709-711)tcC>tcT	p.S237S	GRM7_ENST00000357716.4_Silent_p.S237S|GRM7_ENST00000402647.2_Silent_p.S237S|GRM7_ENST00000403881.1_Silent_p.S237S|GRM7_ENST00000389336.4_Silent_p.S237S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	237					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTGTGGAGTCCTTCACGCAGA	0.483000													16	25					0	0	0.014323	0	0
STK24	8428	broad.mit.edu	37	13	99118722	99118722	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:99118722T>A	ENST00000397517.2	-	6	767	c.691A>T	c.(691-693)Att>Ttt	p.I231F	STK24_ENST00000376547.3_Missense_Mutation_p.I243F|STK24_ENST00000539966.1_Missense_Mutation_p.I212F	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	243	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTCTTTGGAATGAGGAATAAA	0.483000													104	55					0	0	0.014410	0	0
OLFM1	10439	broad.mit.edu	37	9	138011906	138011906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:138011906C>T	ENST00000252854.4	+	6	1473	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	OLFM1_ENST00000371796.3_Missense_Mutation_p.S420F|OLFM1_ENST00000371793.3_Missense_Mutation_p.S447F	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	447	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AACAAATACTCCCACATCTCC	0.537000													50	143					0	0	0.014410	0	0
TBR1	10716	broad.mit.edu	37	2	162274198	162274198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:162274198C>T	ENST00000389554.3	+	2	1021	c.704C>T	c.(703-705)cCt>cTt	p.P235L		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	235						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CGCATGTTTCCTTTTTTAAGT	0.398000													96	263					0	0	0.014410	0	0
ABCB5	340273	broad.mit.edu	37	7	20744422	20744422	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:20744422A>T	ENST00000404938.2	+	20	3065	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	ABCB5_ENST00000258738.6_Missense_Mutation_p.I360F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	360	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATAGCACAAATTCAAGGAGT	0.363000													10	69					0	0	0.006214	0	0
ABCA10	10349	broad.mit.edu	37	17	67212388	67212388	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:67212388G>A	ENST00000269081.4	-	8	1551	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABCA10_ENST00000432313.2_Silent_p.F214F|ABCA10_ENST00000416101.2_Silent_p.F214F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	214					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATAGAGTGTGAATATCACCA	0.343000													140	362					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179447840	179447840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179447840C>T	ENST00000589042.1	-	313	65914	c.65690G>A	c.(65689-65691)tGg>tAg	p.W21897*	TTN_ENST00000591111.1_Nonsense_Mutation_p.W20256*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W12832*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W12957*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W19329*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W13024*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20256	Fibronectin type-III 59.						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)			ATCTTTTTTCCAAGAAACTGT	0.463000													3	16					0	0	0.000602	0	0
SELP	6403	broad.mit.edu	37	1	169581587	169581587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169581587G>A	ENST00000263686.6	-	6	866	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	SELP_ENST00000367786.2_Missense_Mutation_p.H277Y|SELP_ENST00000458599.2_Missense_Mutation_p.H277Y|SELP_ENST00000367792.2_Missense_Mutation_p.H277Y|SELP_ENST00000367791.2_Missense_Mutation_p.H277Y|SELP_ENST00000367794.2_Missense_Mutation_p.H277Y|SELP_ENST00000367788.2_Intron|SELP_ENST00000367793.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	277	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.H277N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTTGCAGAATGAAGGCAGGTC	0.488000													38	53					0	0	0.004878	0	0
BIN2	51411	broad.mit.edu	37	12	51685437	51685437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:51685437C>T	ENST00000267012.4	-	10	1514	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	BIN2_ENST00000544402.1_Missense_Mutation_p.E459K|BIN2_ENST00000452142.2_Missense_Mutation_p.E453K|BIN2_ENST00000604560.1_Missense_Mutation_p.E458K	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	485						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGGATGTTTTCATTTTCTTTG	0.443000													25	57					0	0	0.003954	0	0
SPANXN5	494197	broad.mit.edu	37	X	52826358	52826358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:52826358C>T	ENST00000375511.3	-	1	783	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	11										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TTCCTCTTCTCCCCATTGGTG	0.453000													35	103					0	0	0.006999	0	0
COL28A1	340267	broad.mit.edu	37	7	7495682	7495682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:7495682C>T	ENST00000399429.3	-	16	1504	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	455					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACCTGTTCCCCTTGACTCCC	0.458000													8	58					0	0	0.004482	0	0
QKI	9444	broad.mit.edu	37	6	163836228	163836228	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:163836228G>A	ENST00000361752.3	+	1	554	c.3G>A	c.(1-3)atG>atA	p.M1I	QKI_ENST00000453779.2_Start_Codon_SNP_p.M1I|QKI_ENST00000424802.3_Start_Codon_SNP_p.M1I|QKI_ENST00000392127.2_Start_Codon_SNP_p.M1I|QKI_ENST00000275262.7_Start_Codon_SNP_p.M1I|QKI_ENST00000361195.2_Start_Codon_SNP_p.M1I	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	1					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CCTGGAATATGGTCGGGGAAA	0.682000													16	23					0	0	0.003163	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482603	140482603	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140482603G>A	ENST00000231130.2	+	1	2370	c.2370G>A	c.(2368-2370)agG>agA	p.R790R		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGTTTCAGGAAGAGCTTTG	0.453000													42	107					0	0	0.014410	0	0
MICAL1	64780	broad.mit.edu	37	6	109766440	109766440	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:109766440G>A	ENST00000368952.4	-	22	3188	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A	MICAL1_ENST00000358807.3_Silent_p.A947A|MICAL1_ENST00000358577.3_Silent_p.A861A			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	947					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCACGCCCTCGGCCTCTAGCT	0.567000													28	50					0	0	0.005443	0	0
OR5T2	219464	broad.mit.edu	37	11	56000028	56000028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56000028C>T	ENST00000313264.4	-	1	709	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CGCCTAATTTCATTGGCTCCA	0.418000													44	75					0	0	0.009718	0	0
FBXW12	285231	broad.mit.edu	37	3	48419850	48419850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48419850C>T	ENST00000296438.5	+	6	635	c.449C>T	c.(448-450)tCa>tTa	p.S150L	FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.S131L	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	150										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCCATTTCTCAAATCTGGTA	0.483000													35	54					0	0	0.005524	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332594	100332594	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:100332594C>T	ENST00000341853.1	-	0	1597					NR_003260.1																						GAAAGTTCATCACCCTAGAAC	0.617000													58	139					0	0	0.014410	0	0
ARID5A	10865	broad.mit.edu	37	2	97217346	97217346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:97217346G>A	ENST00000454558.2	+	7	2054	c.877G>A	c.(877-879)Gac>Aac	p.D293N	ARID5A_ENST00000357485.3_Missense_Mutation_p.D361N			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	361					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCACCCCAGGGACTTCTTCTC	0.632000													16	34					0	0	0.004007	0	0
STAC	6769	broad.mit.edu	37	3	36547319	36547319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:36547319G>A	ENST00000273183.3	+	8	1213	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	STAC_ENST00000457375.2_Missense_Mutation_p.E244K	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	305	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TGAAGATTTGGAAATGAGGTA	0.348000													25	22					0	0	0.004656	0	0
FBXW9	84261	broad.mit.edu	37	19	12802235	12802235	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:12802235G>C	ENST00000380339.3	-	4	748	c.712C>G	c.(712-714)Cgc>Ggc	p.R238G	FBXW9_ENST00000587955.1_Missense_Mutation_p.R228G|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Missense_Mutation_p.R238G			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	238							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GAGCACACGCGGTGGTCCTGC	0.652000													9	6					0	0	0.006214	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468784	35468784	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:35468784C>T	ENST00000381151.3	+	2	1799	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	429						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCAATCATCGTGGAGATGC	0.502000													42	122					0	0	0.011902	0	0
CPM	1368	broad.mit.edu	37	12	69264143	69264143	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:69264143G>A	ENST00000551568.1	-	5	528	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CPM_ENST00000546373.1_Silent_p.F156F|CPM_ENST00000338356.3_Silent_p.F156F	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	156					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AAGCATCGGGGAAATTTCGAT	0.398000													18	63					0	0	0.012319	0	0
PRKCI	5584	broad.mit.edu	37	3	169999701	169999701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:169999701G>A	ENST00000295797.4	+	11	1317	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	338	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGTAAATGGAGGAGACCTAAT	0.358000													121	172					0	0	0.014410	0	0
BSND	7809	broad.mit.edu	37	1	55474209	55474209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:55474209G>A	ENST00000371265.4	+	4	1125	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	291						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGAGAAGGAAGAGGAAGA	0.587000													31	88					0	0	0.012213	0	0
SNHG14	104472715	broad.mit.edu	37	15	25325343	25325343	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:25325343G>A	ENST00000549804.2	+	0	1377				SNORD116-14_ENST00000383894.1_RNA																							CAAAATGAGTGAAAACTCTAT	0.448000													94	263					0	0	0.014410	0	0
CD80	941	broad.mit.edu	37	3	119256207	119256207	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:119256207C>T	ENST00000264246.3	-	4	839	c.477G>A	c.(475-477)agG>agA	p.R159R	CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Silent_p.R159R|CD80_ENST00000383669.3_Silent_p.R159R	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	159	Ig-like C2-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	AGCAAATTATCCTTCTAATAT	0.363000													48	61					0	0	0.014410	0	0
GUSBP1	728411	broad.mit.edu	37	5	21461940	21461940	+	RNA	SNP	G	G	A	rs137972597	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:21461940G>A	ENST00000607545.1	+	0	144					NR_027026.1																						GAACAAACTCGAAGAACAGCT	0.368000													68	120					0	0	0.014410	0	0
RNASE9	390443	broad.mit.edu	37	14	21025008	21025008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21025008C>T	ENST00000557068.1	-	4	1946	c.221G>A	c.(220-222)gGa>gAa	p.G74E	RNASE9_ENST00000554964.1_Missense_Mutation_p.G74E|RNASE9_ENST00000553706.1_Missense_Mutation_p.G79E|RNASE9_ENST00000553541.1_Missense_Mutation_p.G74E|RNASE9_ENST00000429244.2_Missense_Mutation_p.G74E|RNASE9_ENST00000404716.3_Missense_Mutation_p.G79E|RNASE9_ENST00000338904.3_Missense_Mutation_p.G74E|RNASE9_ENST00000557209.1_Missense_Mutation_p.G79E|RNASE9_ENST00000556208.1_Missense_Mutation_p.G79E|RNASE9_ENST00000555230.1_Missense_Mutation_p.G74E			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	74						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TAGTGGCATTCCAGGTTCAAT	0.378000													42	133					0	0	0.010771	0	0
MYO18B	84700	broad.mit.edu	37	22	26299772	26299772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:26299772G>A	ENST00000335473.7	+	31	5372	c.5122G>A	c.(5122-5124)Gaa>Aaa	p.E1708K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E1709K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1708K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1708	Gln-rich.|Tail.		E -> K (in a lung adenocarcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGCCAGCAGGAAAACACCAT	0.512000													4	10					0	0	0.009096	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819499	159819499	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:159819499C>T	ENST00000497452.1	-	0	517																											TTCAAGAGTCCCAGCAAAGAA	0.478000													110	389					0	0	0.014410	0	0
PSD4	23550	broad.mit.edu	37	2	113940513	113940513	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:113940513C>T	ENST00000245796.6	+	2	675	c.480C>T	c.(478-480)atC>atT	p.I160I	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.I160I	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	160					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCAGGCATCCTGCAGGCCC	0.607000													40	129					0	0	0.011902	0	0
CD96	10225	broad.mit.edu	37	3	111319755	111319755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:111319755C>T	ENST00000352690.4	+	7	1321	c.1081C>T	c.(1081-1083)Ctc>Ttc	p.L361F	CD96_ENST00000283285.5_Missense_Mutation_p.L377F|CD96_ENST00000438817.2_Missense_Mutation_p.L361F	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	377	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATCACTTTTCTCTTAGGTGA	0.368000									Opitz Trigonocephaly syndrome				21	71					0	0	0.012319	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876109	74876109	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:74876109C>T	ENST00000331628.3	-	2	586	c.339G>A	c.(337-339)gaG>gaA	p.E113E	SYNDIG1L_ENST00000554823.1_Silent_p.E113E	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	113					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGGTGACATTCTCTGCAGCTT	0.597000													75	208					0	0	0.014410	0	0
OR2T6	254879	broad.mit.edu	37	1	248551041	248551041	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248551041C>T	ENST00000355728.2	+	1	132	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			CTAATGGGGTCATGATCTTCC	0.468000													22	81					0	0	0.010504	0	0
NLRX1	79671	broad.mit.edu	37	11	119044590	119044590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:119044590C>T	ENST00000409109.1	+	5	1219	c.632C>T	c.(631-633)tCc>tTc	p.S211F	NLRX1_ENST00000409991.1_Missense_Mutation_p.S211F|NLRX1_ENST00000525863.1_Missense_Mutation_p.S211F|NLRX1_ENST00000409265.4_Missense_Mutation_p.S211F|NLRX1_ENST00000292199.2_Missense_Mutation_p.S211F			Q86UT6	NLRX1_HUMAN	NLR family member X1	211	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCCAGCCTCCCTGTGCCAA	0.627000													44	38					0	0	0.009718	0	0
CACNA1E	777	broad.mit.edu	37	1	181702150	181702150	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:181702150G>A	ENST00000526775.1	+	19	3036	c.2871G>A	c.(2869-2871)gaG>gaA	p.E957E	CACNA1E_ENST00000357570.5_Silent_p.E927E|CACNA1E_ENST00000367570.1_Silent_p.E976E|CACNA1E_ENST00000360108.3_Silent_p.E957E|CACNA1E_ENST00000367573.2_Silent_p.E976E|CACNA1E_ENST00000358338.5_Silent_p.E908E|CACNA1E_ENST00000367567.4_Silent_p.E583E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	976					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCAAGAAGAGAGAGCCCAGG	0.552000													14	56					0	0	0.002450	0	0
DDR1	780	broad.mit.edu	37	6	30862382	30862382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30862382C>T	ENST00000324771.8	+	13	1995	c.1447C>T	c.(1447-1449)Ccg>Tcg	p.P483S	DDR1_ENST00000418800.2_Missense_Mutation_p.P483S|DDR1_ENST00000376570.4_Missense_Mutation_p.P483S|DDR1_ENST00000508312.1_Missense_Mutation_p.P501S|DDR1_ENST00000454612.2_Missense_Mutation_p.P483S|DDR1_ENST00000376575.3_Missense_Mutation_p.P483S|DDR1_ENST00000452441.1_Missense_Mutation_p.P483S|DDR1_ENST00000361741.4_Silent_p.P186P|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.P483S|DDR1_ENST00000513240.1_Missense_Mutation_p.P483S|DDR1_ENST00000376567.2_Missense_Mutation_p.P483S|DDR1_ENST00000376569.3_Missense_Mutation_p.P483S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	483	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGAGCCACCCCCGTACCAGGA	0.627000													40	151					0	0	0.011902	0	0
NLRP5	126206	broad.mit.edu	37	19	56539137	56539137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56539137G>A	ENST00000390649.3	+	7	1538	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	513	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCACCCCTCGAGGCGTGGTC	0.597000													18	21					0	0	0.002780	0	0
ADRA2B	151	broad.mit.edu	37	2	96781270	96781270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96781270G>A	ENST00000409345.3	-	1	714	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	207					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TTGGCCCTGGGACCTCTGCGG	0.627000													33	54					0	0	0.003271	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883992	228883992	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:228883992C>T	ENST00000392056.3	-	7	1624	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	SPHKAP_ENST00000344657.5_Silent_p.S526S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	526						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGAAAGTTCGAGACCACTT	0.502000													38	106					0	0	0.006230	0	0
FBXO9	26268	broad.mit.edu	37	6	52957291	52957291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:52957291C>T	ENST00000244426.6	+	7	920	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FBXO9_ENST00000323557.7_Missense_Mutation_p.P240S|FBXO9_ENST00000370939.3_Missense_Mutation_p.P206S	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	250						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TAAACTTGTTCCGTACACGTC	0.418000													51	126					0	0	0.014410	0	0
CHST5	23563	broad.mit.edu	37	16	75563461	75563461	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:75563461G>A	ENST00000336257.3	-	3	2216	c.822C>T	c.(820-822)atC>atT	p.I274I	CHST5_ENST00000541075.1_Silent_p.I280I|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	274					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGGCCTCGGCGATGCGCACGT	0.716000													45	88					0	0	0.014410	0	0
CD200R1	131450	broad.mit.edu	37	3	112648058	112648058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:112648058C>T	ENST00000471858.1	-	3	662	c.430G>A	c.(430-432)Gga>Aga	p.G144R	CD200R1_ENST00000490004.1_Missense_Mutation_p.G144R|CD200R1_ENST00000440122.2_Missense_Mutation_p.G167R|CD200R1_ENST00000295863.4_Missense_Mutation_p.G122R|CD200R1_ENST00000308611.3_Missense_Mutation_p.G167R	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	144	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.G167*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGGTGATATCCACGATGGAAA	0.428000													27	108					0	0	0.006320	0	0
SYT15	83849	broad.mit.edu	37	10	46967611	46967611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:46967611C>T	ENST00000374323.3	-	3	1212	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	SYT15_ENST00000374321.4_Missense_Mutation_p.E156K|SYT15_ENST00000503753.1_Missense_Mutation_p.E156K|SYT15_ENST00000374325.3_Missense_Mutation_p.E156K			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	156	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGCTCATATTCCACCGAGAAC	0.622000													43	128					0	0	0.007835	0	0
MTX3	345778	broad.mit.edu	37	5	79284378	79284378	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:79284378G>A	ENST00000512560.1	-	4	347	c.228C>T	c.(226-228)atC>atT	p.I76I	MTX3_ENST00000512528.1_Silent_p.I137I|MTX3_ENST00000509852.1_Silent_p.I137I	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	137					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TTCCAGGCAGGATCAAACTCA	0.458000													9	17					0	0	0.004482	0	0
AHDC1	27245	broad.mit.edu	37	1	27875278	27875278	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:27875278G>A	ENST00000374011.2	-	6	4317	c.3349C>T	c.(3349-3351)Ctg>Ttg	p.L1117L	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.L1117L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1117							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCCAGTCCAGGCCTCCATAG	0.612000													37	130					0	0	0.006230	0	0
GALNT14	79623	broad.mit.edu	37	2	31178546	31178546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:31178546G>A	ENST00000349752.5	-	6	1231	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	GALNT14_ENST00000356174.3_Missense_Mutation_p.L165F|GALNT14_ENST00000420311.2_Missense_Mutation_p.L163F|GALNT14_ENST00000406653.1_Missense_Mutation_p.L178F|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.L203F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	198	Catalytic subdomain A.					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)					TGGCTGTCGAGGAAAGTCAGA	0.627000													29	78					0	0	0.006320	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208665	23208665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:23208665C>T	ENST00000300061.2	+	6	1137	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	332					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGTGATCATCCATCGGCAGGA	0.468000													23	41					0	0	0.014323	0	0
DPPA2	151871	broad.mit.edu	37	3	109031453	109031453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:109031453C>T	ENST00000478945.1	-	3	366	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	40						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCTTGGTTCCATTTGTTCCA	0.413000													140	182					0	0	0.014410	0	0
SEMA4A	64218	broad.mit.edu	37	1	156124465	156124465	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:156124465G>A	ENST00000368285.3	+	2	363	c.96G>A	c.(94-96)ggG>ggA	p.G32G	SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368282.1_Silent_p.G32G|SEMA4A_ENST00000355014.2_Silent_p.G32G|SEMA4A_ENST00000368286.2_5'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	32					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGACCGCGGGGGGAGGCGGGC	0.647000													15	26					0	0	0.008871	0	0
SLC25A12	8604	broad.mit.edu	37	2	172700923	172700923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:172700923G>A	ENST00000422440.2	-	5	458	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Missense_Mutation_p.R34W	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	141	EF-hand 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGCTTCTTCCGGTTATGCCCA	0.358000													34	105					0	0	0.003271	0	0
PRRX1	5396	broad.mit.edu	37	1	170699449	170699449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:170699449G>A	ENST00000367760.3	+	4	1716	c.631G>A	c.(631-633)Gag>Aag	p.E211K	PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron	NM_006902.3	NP_008833.1	P54821	PRRX1_HUMAN	paired related homeobox 1	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTTTACACGAGGGGCTTCA	0.478000													86	128					0	0	0.014410	0	0
GCM1	8521	broad.mit.edu	37	6	52996869	52996869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:52996869C>T	ENST00000259803.7	-	4	588	c.377G>A	c.(376-378)cGa>cAa	p.R126Q		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	126						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CCCATGACCTCGGCAAGGGAT	0.507000													28	89					0	0	0.013726	0	0
RASAL3	64926	broad.mit.edu	37	19	15567445	15567445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15567445C>T	ENST00000343625.6	-	10	1524	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	RASAL3_ENST00000595098.1_5'UTR	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	482	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GTGCCCAGGTCAGTCACCAGC	0.602000													22	29					0	0	0.004656	0	0
OR10H5	284433	broad.mit.edu	37	19	15905563	15905563	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15905563G>A	ENST00000308940.8	+	1	803	c.705G>A	c.(703-705)cgG>cgA	p.R235R		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTGAAGGTCGGAACAAGGCCT	0.562000													36	122					0	0	0.010771	0	0
SPEG	10290	broad.mit.edu	37	2	220312828	220312828	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220312828C>T	ENST00000312358.7	+	4	1080	c.948C>T	c.(946-948)gtC>gtT	p.V316V	SPEG_ENST00000396698.1_Silent_p.V212V|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	316	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTCGGGTCGGGAAGCGGT	0.751000													9	17					0	0	0.006214	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42114441	42114441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42114441C>T	ENST00000457542.2	+	26	3336	c.3050C>T	c.(3049-3051)cCc>cTc	p.P1017L	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P856L|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P900L|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P1017L|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P1023L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1023										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCACGGAGCCCCTCAGTGTG	0.627000													27	75					0	0	0.007291	0	0
BRINP1	1620	broad.mit.edu	37	9	121930199	121930199	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:121930199G>A	ENST00000265922.3	-	8	1910	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		483					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CCAGGTCCTGGAAGTCCAGGT	0.562000													31	78					0	0	0.008361	0	0
TNIK	23043	broad.mit.edu	37	3	170846571	170846571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:170846571C>T	ENST00000436636.2	-	16	2049	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	TNIK_ENST00000470834.1_Missense_Mutation_p.E540K|TNIK_ENST00000369326.5_Missense_Mutation_p.E540K|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000357327.5_Missense_Mutation_p.E540K|TNIK_ENST00000284483.8_Missense_Mutation_p.E569K|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000460047.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	569	Mediates interaction with NEDD4.				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)			CTGAAGGACTCCGACCTTGGG	0.567000													11	48					0	0	0.013537	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110499029	110499029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110499029G>A	ENST00000378402.5	+	59	9963	c.9859G>A	c.(9859-9861)Gaa>Aaa	p.E3287K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3287					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCATTCACTGAAAATATGAT	0.368000										HNSCC(38;0.096)			10	53					0	0	0.013537	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710921	14710921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:14710921C>T	ENST00000547437.1	+	12	898	c.821C>T	c.(820-822)tCa>tTa	p.S274L	CLEC17A_ENST00000397439.2_Missense_Mutation_p.S257L|CLEC17A_ENST00000417570.1_Missense_Mutation_p.S274L	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	274	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AGCACCAAGTCATGGGATGAG	0.522000													27	108					0	0	0.007291	0	0
CDH8	1006	broad.mit.edu	37	16	61761101	61761101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:61761101G>A	ENST00000577390.1	-	9	2387	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L	CDH8_ENST00000299345.6_Missense_Mutation_p.S478L|CDH8_ENST00000577730.1_Missense_Mutation_p.S478L|CDH8_ENST00000584337.1_Missense_Mutation_p.S478L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	478	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGTACTCGTGATATCTGACT	0.413000													8	49					0	0	0.003080	0	0
IL12RB1	3594	broad.mit.edu	37	19	18170811	18170811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18170811C>T	ENST00000600835.1	-	17	2179	c.1876G>A	c.(1876-1878)Ggc>Agc	p.G626S	IL12RB1_ENST00000593993.1_Missense_Mutation_p.G626S|IL12RB1_ENST00000430026.2_Missense_Mutation_p.G626S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	626					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTCCTCTCGCCTTTGTCCCAG	0.587000													26	30					0	0	0.004656	0	0
AP4E1	23431	broad.mit.edu	37	15	51285609	51285609	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:51285609G>A	ENST00000261842.5	+	17	2239	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	AP4E1_ENST00000560508.1_Silent_p.G636G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	711					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTGTGGGGGAAAGAAGGCT	0.378000													20	35					0	0	0.010504	0	0
MGAM	8972	broad.mit.edu	37	7	141734488	141734488	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141734488C>T	ENST00000475668.2	+	16	1860	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	MGAM_ENST00000549489.2_Silent_p.F602F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	602	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACTGTGTTCCCTAATAAGA	0.488000													10	20					0	0	0.010729	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709708	22709708	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:22709708G>A	ENST00000314246.8	-	0	1076																											CTTCTTCAACGAGCAAACCTG	0.547000													97	217					0	0	0.014410	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035496	242035496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242035496C>T	ENST00000391980.2	-	4	1121	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	MTERFD2_ENST00000406593.1_Missense_Mutation_p.D167N|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	355										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcatcattgtcatcctcatca	0.517000													33	70					0	0	0.012213	0	0
FILIP1	27145	broad.mit.edu	37	6	76022428	76022428	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:76022428G>A	ENST00000393004.2	-	5	3341	c.3120C>T	c.(3118-3120)acC>acT	p.T1040T	FILIP1_ENST00000370020.1_Silent_p.T941T|FILIP1_ENST00000237172.7_Silent_p.T1040T|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1040										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTTTTCTGGGGTGACTTTGA	0.453000													95	145					0	0	0.014410	0	0
SPATC1	375686	broad.mit.edu	37	8	145095066	145095066	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145095066C>T	ENST00000377470.3	+	2	570	c.468C>T	c.(466-468)tcC>tcT	p.S156S	SPATC1_ENST00000447830.2_Silent_p.S156S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	156										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCAGTTCCCTGGGCCTGC	0.672000													6	26					0	0	0.001168	0	0
PLD1	5337	broad.mit.edu	37	3	171320910	171320910	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:171320910A>G	ENST00000356327.5	-	26	3139	c.3069T>C	c.(3067-3069)gtT>gtC	p.V1023V	PLD1_ENST00000351298.4_Silent_p.V1061V|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1061					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGGTCCCAACAGAAGGCA	0.473000													13	65					0	0	0.002450	0	0
DTX3	196403	broad.mit.edu	37	12	58001367	58001367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:58001367C>T	ENST00000548198.1	+	3	2225	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	DTX3_ENST00000337737.3_Nonsense_Mutation_p.Q241*|DTX3_ENST00000551632.1_Nonsense_Mutation_p.Q244*|DTX3_ENST00000548804.1_Nonsense_Mutation_p.Q241*			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	241					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CATTGTCATCCAGTACGTCTT	0.602000													47	153					0	0	0.014410	0	0
ADCY5	111	broad.mit.edu	37	3	123023025	123023025	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:123023025G>A	ENST00000462833.1	-	13	3660	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	ADCY5_ENST00000309879.5_Silent_p.F466F|ADCY5_ENST00000491190.1_Silent_p.F449F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	816					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTGgggaggggaagagctagg	0.612000													12	55					0	0	0.013537	0	0
TOX2	84969	broad.mit.edu	37	20	42635286	42635286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:42635286G>A	ENST00000358131.5	+	3	500	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	TOX2_ENST00000372999.1_Missense_Mutation_p.E47K|TOX2_ENST00000423191.1_Missense_Mutation_p.E47K|TOX2_ENST00000341197.3_Missense_Mutation_p.E89K	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	98	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGGGGACCACGAAGCCAGCTA	0.617000													28	94					0	0	0.007291	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169640	207169640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:207169640G>A	ENST00000374423.3	+	5	774	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	130							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGCACGCAGGAGGTTTCAGT	0.458000													8	32					0	0	0.004482	0	0
ADH5	128	broad.mit.edu	37	4	100006318	100006318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:100006318G>A	ENST00000296412.8	-	2	112	c.62C>T	c.(61-63)tCc>tTc	p.S21F	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	21					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CTCCTCTATGGAGAGAGGCTT	0.453000													7	12					0	0	0.004482	0	0
HGF	3082	broad.mit.edu	37	7	81331939	81331939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:81331939C>T	ENST00000222390.5	-	18	2371	c.2145G>A	c.(2143-2145)tgG>tgA	p.W715*	HGF_ENST00000457544.2_Nonsense_Mutation_p.W710*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	715	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTTTGTGTATCCATTTTGCAT	0.373000													12	32					0	0	0.013537	0	0
DCST2	127579	broad.mit.edu	37	1	155005177	155005177	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:155005177G>A	ENST00000368424.3	-	3	565	c.507C>T	c.(505-507)ttC>ttT	p.F169F	DCST2_ENST00000295536.5_Silent_p.F169F	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	169						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGACCGAAAGAACTTGCGGA	0.542000													46	188					0	0	0.014410	0	0
L1TD1	54596	broad.mit.edu	37	1	62675887	62675887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62675887G>A	ENST00000498273.1	+	4	1736	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	481	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ATCAGAGGAGGAAGAAGAAGG	0.403000													24	61					0	0	0.003330	0	0
FGF17	8822	broad.mit.edu	37	8	21903803	21903803	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:21903803G>A	ENST00000359441.3	+	3	753		c.e3+1		FGF17_ENST00000518533.1_Splice_Site|FGF17_ENST00000521709.1_Splice_Site	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17						cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AACAAGTTTGGTGAGAGTTGG	0.642000													42	57					0	0	0.007835	0	0
DIDO1	11083	broad.mit.edu	37	20	61525489	61525489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:61525489G>A	ENST00000266070.4	-	12	2955	c.2630C>T	c.(2629-2631)tCt>tTt	p.S877F	DIDO1_ENST00000395340.1_Missense_Mutation_p.S877F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S877F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S877F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	877					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S877F(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTTCTTAACAGAAGCTGACAA	0.512000													73	249					0	0	0.014410	0	0
HIP1R	9026	broad.mit.edu	37	12	123341062	123341062	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:123341062G>A	ENST00000253083.4	+	16	1610	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	495					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGGCCTTCCAGGTGGAGCAGG	0.657000													6	19					0	0	0.001168	0	0
DNAH2	146754	broad.mit.edu	37	17	7695608	7695608	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7695608G>A	ENST00000572933.1	+	46	8552	c.7092G>A	c.(7090-7092)cgG>cgA	p.R2364R	DNAH2_ENST00000389173.2_Silent_p.R2364R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2364					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCAAAATACGGAGTTGGACAT	0.532000													74	121					0	0	0.014410	0	0
EFCAB6	64800	broad.mit.edu	37	22	44068144	44068144	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44068144G>A	ENST00000262726.7	-	14	1714	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	EFCAB6_ENST00000396231.2_Silent_p.F335F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGGCCAGGAGGAAAGGTGTCT	0.403000													32	84					0	0	0.013726	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424823	69424823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:69424823C>T	ENST00000333026.3	+	7	981	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	294					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTTCCAATTCCCAGGATTAAG	0.468000													16	22					0	0	0.007413	0	0
MARCH7	64844	broad.mit.edu	37	2	160585558	160585558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:160585558C>T	ENST00000259050.3	+	2	147	c.25C>T	c.(25-27)Cca>Tca	p.P9S	MARCH7_ENST00000409175.1_Missense_Mutation_p.P9S|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Missense_Mutation_p.P9S	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	9							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTCAAGGATTCCAAGAAGAAT	0.343000													25	51					0	0	0.004656	0	0
RANBP10	57610	broad.mit.edu	37	16	67763291	67763291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67763291G>A	ENST00000317506.3	-	10	1359	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	RANBP10_ENST00000411657.2_Missense_Mutation_p.S298F|RANBP10_ENST00000536251.1_Missense_Mutation_p.S186F|RANBP10_ENST00000448631.2_Missense_Mutation_p.S359F|RANBP10_ENST00000602677.1_Missense_Mutation_p.S415F	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	415	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaggaggaggaggacgagga	0.562000													10	47					0	0	0.006214	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452934	106452934	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106452934C>T	ENST00000390594.2	-	0	151																											GGCTTCTTCACCTCAGCCCCA	0.577000													48	113					0	0	0.014410	0	0
TCTE1	202500	broad.mit.edu	37	6	44254128	44254128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:44254128G>A	ENST00000371505.4	-	3	541	c.419C>T	c.(418-420)cCc>cTc	p.P140L	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	140										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGGCACACGGGCCAGCGATG	0.597000													49	139					0	0	0.014410	0	0
CFB	629	broad.mit.edu	37	6	31911708	31911708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31911708C>T	ENST00000556679.1	+	11	1344	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	CFB_ENST00000477310.1_Missense_Mutation_p.P354L|C2_ENST00000452323.2_Missense_Mutation_p.P369L|C2_ENST00000442278.2_Missense_Mutation_p.P451L|C2_ENST00000299367.5_Missense_Mutation_p.P583L|C2_ENST00000469372.1_Missense_Mutation_p.P337L|CFB_ENST00000456570.1_Missense_Mutation_p.P430L|C2_ENST00000468407.1_3'UTR			P00751	CFAB_HUMAN	complement factor B	598	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATCTGCCTTCCCTGCACGATG	0.612000													46	134					0	0	0.014410	0	0
KCNV1	27012	broad.mit.edu	37	8	110984641	110984641	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110984641G>A	ENST00000524391.1	-	3	1869	c.837C>T	c.(835-837)gaC>gaT	p.D279D	KCNV1_ENST00000297404.1_Silent_p.D279D			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	279						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGCAAGGAGGTCTATGATGT	0.552000													23	63					0	0	0.012319	0	0
EPHA3	2042	broad.mit.edu	37	3	89462371	89462371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:89462371G>A	ENST00000336596.2	+	10	2068	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E615K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	615						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTTGCCAAGGAATTGGATGC	0.423000										TSP Lung(6;0.00050)			15	71					0	0	0.004007	0	0
CSF1R	1436	broad.mit.edu	37	5	149460515	149460515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:149460515C>T	ENST00000286301.3	-	3	413	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	CSF1R_ENST00000543093.1_Missense_Mutation_p.R41Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	41	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCCCACACATCGCAAGGTCAC	0.597000													20	25					0	0	0.008871	0	0
DAAM1	23002	broad.mit.edu	37	14	59791096	59791096	+	Missense_Mutation	SNP	C	C	T	rs150648068		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:59791096C>T	ENST00000395125.1	+	7	936	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	DAAM1_ENST00000360909.3_Missense_Mutation_p.R305C|DAAM1_ENST00000351081.1_Missense_Mutation_p.R305C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	305	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCATCTTCGCTATGAATT	0.284000													35	101					0	0	0.008740	0	0
LRRC52	440699	broad.mit.edu	37	1	165513878	165513878	+	Silent	SNP	G	G	A	rs149047999	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:165513878G>A	ENST00000294818.1	+	1	635	c.345G>A	c.(343-345)tcG>tcA	p.S115S	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	115						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCTAACCTCGATCTCCCCAT	0.493000													126	195					0	0	0.014410	0	0
NLRP14	338323	broad.mit.edu	37	11	7064301	7064301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:7064301G>A	ENST00000299481.4	+	4	1390	c.1044G>A	c.(1042-1044)tgG>tgA	p.W348*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	348	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATAAGAGGTGGGCCATGAAAG	0.428000													13	73					0	0	0.001855	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905801	164905801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164905801C>T	ENST00000475390.1	-	2	3261	c.2818G>A	c.(2818-2820)Gga>Aga	p.G940R	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G940R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	940				G -> E (in Ref. 1; BAA74871).		integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGCCCTTTCCAGCCGAGAAG	0.502000										HNSCC(40;0.11)			170	223					0	0	0.014410	0	0
IQCH	64799	broad.mit.edu	37	15	67664823	67664823	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:67664823C>T	ENST00000335894.4	+	9	1194	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	IQCH_ENST00000360277.4_Silent_p.I128I|IQCH_ENST00000358767.3_Silent_p.I203I|IQCH_ENST00000546225.1_Silent_p.I124I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	376	IQ.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCATGAAGATCCAAGCCACAT	0.463000													30	74					0	0	0.009535	0	0
TAF4	6874	broad.mit.edu	37	20	60574056	60574056	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:60574056G>A	ENST00000252996.3	-	12	2895	c.2896C>T	c.(2896-2898)Ctg>Ttg	p.L966L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	966					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GCCCTCATCAGGATCTCCCGC	0.557000													163	385					0	0	0.014410	0	0
JKAMP	51528	broad.mit.edu	37	14	59954515	59954515	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:59954515T>C	ENST00000554271.1	+	3	788	c.262T>C	c.(262-264)Ttc>Ctc	p.F88L	JKAMP_ENST00000425728.2_Missense_Mutation_p.F68L|JKAMP_ENST00000261247.9_Missense_Mutation_p.F74L|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000556985.1_Missense_Mutation_p.F74L|JKAMP_ENST00000356057.5_Missense_Mutation_p.F82L			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	89					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTTACATTGGTTCTTCATTGA	0.383000													133	383					0	0	0.014410	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607563	84607563	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:84607563G>A	ENST00000344803.2	+	4	2225	c.2178G>A	c.(2176-2178)gaG>gaA	p.E726E		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTGTGTCAGAGAGAATTCATG	0.498000													20	53					0	0	0.012319	0	0
JAG2	3714	broad.mit.edu	37	14	105615171	105615171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:105615171G>A	ENST00000331782.3	-	15	2334	c.1931C>T	c.(1930-1932)cCc>cTc	p.P644L	JAG2_ENST00000347004.2_Missense_Mutation_p.P606L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	644	EGF-like 11; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ATTGCGGCAGGGCTGGCCCAG	0.692000													5	16					0	0	0.001168	0	0
ATP10B	23120	broad.mit.edu	37	5	160039886	160039886	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:160039886C>T	ENST00000327245.5	-	18	3546	c.2700G>A	c.(2698-2700)acG>acA	p.T900T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	900					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTGGCAATCGTATCTGGAA	0.507000													15	22					0	0	0.004007	0	0
OR2F2	135948	broad.mit.edu	37	7	143633246	143633246	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143633246A>T	ENST00000408955.2	+	1	988	c.921A>T	c.(919-921)aaA>aaT	p.K307N		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TATTAGAGAAATTCTCTGGGT	0.428000													34	63					0	0	0.003755	0	0
ATP2B4	493	broad.mit.edu	37	1	203676236	203676236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203676236C>T	ENST00000357681.5	+	9	2322	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	ATP2B4_ENST00000391954.2_Missense_Mutation_p.P400L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.P388L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.P400L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.P400L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	400					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGTGTACTCCCATCTACATC	0.493000													22	62					0	0	0.012319	0	0
OR2W3	343171	broad.mit.edu	37	1	248059118	248059118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248059118C>T	ENST00000537741.1	+	3	487	c.230C>T	c.(229-231)tCc>tTc	p.S77F	OR2W3_ENST00000360358.3_Missense_Mutation_p.S77F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCACCAGCTCCATCCCCCAG	0.577000													116	177					0	0	0.014410	0	0
MUC4	4585	broad.mit.edu	37	3	195517402	195517402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:195517402G>A	ENST00000463781.3	-	2	1508	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S350L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	355					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TAAAACAGTTGATGTTGTAAC	0.478000													103	409					0	0	0.014410	0	0
TACR3	6870	broad.mit.edu	37	4	104512783	104512783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:104512783G>A	ENST00000304883.2	-	4	1086	c.946C>T	c.(946-948)Cat>Tat	p.H316Y	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	316						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAGTAAATATGATAGGGCAGC	0.353000													4	33					0	0	0.009096	0	0
CHRM3	1131	broad.mit.edu	37	1	240071338	240071338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:240071338C>T	ENST00000255380.4	+	5	1366	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	196					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.S196F(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGGTCATCTCCTTTGTCCTT	0.517000													91	207					0	0	0.014410	0	0
RFX4	5992	broad.mit.edu	37	12	107075789	107075789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:107075789C>T	ENST00000392842.1	+	5	748	c.334C>T	c.(334-336)Cct>Tct	p.P112S	RFX4_ENST00000357881.4_Missense_Mutation_p.P121S|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.2_ENST00000547531.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	112					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCAGCAGTTTCCTCAGTTAAC	0.498000													27	87					0	0	0.008361	0	0
PCSK1	5122	broad.mit.edu	37	5	95757603	95757603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:95757603C>T	ENST00000311106.3	-	5	838	c.601G>A	c.(601-603)Gat>Aat	p.D201N	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.D154N	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	201	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.D201N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGTGGGATCATATCGGGGA	0.318000													40	83					0	0	0.009718	0	0
MORC1	27136	broad.mit.edu	37	3	108682428	108682428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:108682428C>T	ENST00000232603.5	-	27	2714	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	MORC1_ENST00000483760.1_Missense_Mutation_p.E857K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	878					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTTTTTTTTCATATTGGACC	0.279000													13	70					0	0	0.013537	0	0
FILIP1	27145	broad.mit.edu	37	6	76022427	76022427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:76022427G>A	ENST00000393004.2	-	5	3342	c.3121C>T	c.(3121-3123)Cca>Tca	p.P1041S	FILIP1_ENST00000370020.1_Missense_Mutation_p.P942S|FILIP1_ENST00000237172.7_Missense_Mutation_p.P1041S|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1041										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTTTTTCTGGGGTGACTTTG	0.453000													96	143					0	0	0.014410	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725369	106725369	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106725369C>T	ENST00000390609.2	-	0	261																											CCAGCCCCTTCCCTGGAGCCT	0.582000													84	358					0	0	0.014410	0	0
HEPH	9843	broad.mit.edu	37	X	65390543	65390543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:65390543G>A	ENST00000519389.1	+	2	472	c.293G>A	c.(292-294)aGa>aAa	p.R98K	HEPH_ENST00000343002.2_Missense_Mutation_p.R44K|HEPH_ENST00000419594.1_Missense_Mutation_p.R47K|HEPH_ENST00000374727.3_Missense_Mutation_p.R47K|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.R47K			Q9BQS7	HEPH_HUMAN	hephaestin	44	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCAAGGGAAGAAATGTCATC	0.498000													11	11					0	0	0.013537	0	0
EPPK1	83481	broad.mit.edu	37	8	144941340	144941340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:144941340C>T	ENST00000525985.1	-	2	6153	c.6082G>A	c.(6082-6084)Gaa>Aaa	p.E2028K				P58107	EPIPL_HUMAN	epiplakin 1	2028						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGGCTGTTTCCAGTGGGAGC	0.602000													12	69					0	0	0.001855	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480350	35480350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:35480350G>A	ENST00000357182.4	-	6	970	c.743C>T	c.(742-744)cCt>cTt	p.P248L	ZMYM6_ENST00000373340.2_Missense_Mutation_p.P248L|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P248L	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	248					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGATTGGCAAGGACCAGAGCT	0.413000													26	86					0	0	0.010818	0	0
IL7R	3575	broad.mit.edu	37	5	35875685	35875685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:35875685G>A	ENST00000303115.3	+	7	1001	c.872G>A	c.(871-873)aGa>aAa	p.R291K	IL7R_ENST00000343305.4_Missense_Mutation_p.E260K|IL7R_ENST00000506850.1_Missense_Mutation_p.E260K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	291					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						6	37					0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167085202	167085202	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:167085202A>G	ENST00000375387.4	-	22	4548	c.4209_splice	c.e22+1	p.V1403_splice	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site_p.V1391_splice|SCN9A_ENST00000409435.1_Splice_Site_p.V1402_splice|SCN9A_ENST00000303354.6_Splice_Site_p.V1403_splice			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1402						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GACACTTACAACTTGAAGCAG	0.313000													58	148					0	0	0.014410	0	0
MUC5B	727897	broad.mit.edu	37	11	1264202	1264202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1264202G>A	ENST00000447027.1	+	31	6159	c.6101G>A	c.(6100-6102)gGg>gAg	p.G2034E	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.G2031E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2031	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)		ACCACAACTGGGGCCACCGGC	0.647000													97	235					0	0	0.014410	0	0
DPP10	57628	broad.mit.edu	37	2	116548887	116548887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:116548887C>T	ENST00000410059.1	+	19	2135	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L	DPP10_ENST00000310323.8_Missense_Mutation_p.P545L|DPP10_ENST00000409163.1_Missense_Mutation_p.P502L|DPP10_ENST00000393147.2_Missense_Mutation_p.P556L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	552					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTCCCTTCCCAAAGATTTT	0.289000													51	150					0	0	0.014410	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659684	121659684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:121659684G>A	ENST00000489711.1	+	22	2408	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	SLC15A2_ENST00000295605.2_Missense_Mutation_p.E643K	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	674					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCAGTGGGCCGAATTCATTTT	0.473000													62	134					0	0	0.014410	0	0
TENM1	10178	broad.mit.edu	37	X	123515010	123515010	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:123515010G>A	ENST00000422452.2	-	32	7638	c.7575C>T	c.(7573-7575)gtC>gtT	p.V2525V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.V2518V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V2520V(1)									AAACAGAAGGGACAGCAGCAA	0.458000													31	60					0	0	0.009535	0	0
CCDC33	80125	broad.mit.edu	37	15	74622634	74622634	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74622634C>T	ENST00000321288.5	+	14	2004	c.2004C>T	c.(2002-2004)agC>agT	p.S668S	CCDC33_ENST00000398814.3_Silent_p.S465S|CCDC33_ENST00000558821.1_Silent_p.S58S|CCDC33_ENST00000268082.4_Silent_p.S58S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	668							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TACTGAGGAGCCGCCTGGCCC	0.632000													13	35					0	0	0.001855	0	0
C20orf26	26074	broad.mit.edu	37	20	20232323	20232323	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:20232323C>T	ENST00000245957.5	+	20	2320	c.2244C>T	c.(2242-2244)gaC>gaT	p.D748D	C20orf26_ENST00000389656.3_Silent_p.D104D|C20orf26_ENST00000377293.1_Silent_p.D104D|C20orf26_ENST00000377309.2_Silent_p.D104D	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	748										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCGGCATAGACCGAGCAGCCA	0.542000													83	157					0	0	0.014410	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113890	42113890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42113890C>T	ENST00000457542.2	+	24	3113	c.2827C>T	c.(2827-2829)Ccc>Tcc	p.P943S	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P782S|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P826S|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P943S|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P949S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	949										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGAACCTGCACCCATTGAAGA	0.567000													62	138					0	0	0.014410	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197276	89197276	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:89197276C>T	ENST00000390244.2	+	0	384																											CATATTACTTCTGTCTACAAC	0.433000													12	23					0	0	0.010729	0	0
CELSR3	1951	broad.mit.edu	37	3	48691867	48691867	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48691867G>A	ENST00000544264.1	-	7	5287	c.5007C>T	c.(5005-5007)ggC>ggT	p.G1669G	CELSR3_ENST00000164024.4_Silent_p.G1669G			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1669	Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGAAGAGGGCCCGTCAGGT	0.632000													26	43					0	0	0.007291	0	0
TRIM42	287015	broad.mit.edu	37	3	140407357	140407357	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:140407357G>A	ENST00000286349.3	+	3	2024	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	611	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTATCTACCAGACTCTGGTGT	0.532000													38	171					0	0	0.006230	0	0
PASD1	139135	broad.mit.edu	37	X	150840850	150840850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:150840850G>A	ENST00000370357.4	+	14	1878	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	545	Lys-rich.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					gaagCTAcaggagcggaagaa	0.527000													8	15					0	0	0.003080	0	0
MUC6	4588	broad.mit.edu	37	11	1018158	1018158	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1018158T>C	ENST00000421673.2	-	31	4693	c.4643A>G	c.(4642-4644)aAc>aGc	p.N1548S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1548	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTAGTGGGGTTGGGAGTAAT	0.552000													137	299					0	0	0.014410	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252327	145252327	+	Missense_Mutation	SNP	C	C	T	rs447402		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:145252327C>T	ENST00000377976.1	-	1	204	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	69										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTGGGGACTTCCCCAGACCCA	0.527000													24	45					0	0	0.003330	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533014	166533014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:166533014G>A	ENST00000314499.7	+	6	977	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	CSRNP3_ENST00000409420.1_Missense_Mutation_p.E233K|CSRNP3_ENST00000342316.4_Missense_Mutation_p.E201K	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	201					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGAAAAGCACGAACTCCGAGC	0.522000													45	90					0	0	0.011902	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409140	56409140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56409140C>T	ENST00000544374.1	-	1	807	c.779G>A	c.(778-780)gGa>gAa	p.G260E	OR5AP2_ENST00000302981.1_Missense_Mutation_p.G259E			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GAGGATTGTTCCAAAGAATAT	0.448000													44	79					0	0	0.011902	0	0
LGI2	55203	broad.mit.edu	37	4	25005844	25005844	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:25005844G>A	ENST00000382114.4	-	8	1052	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	289						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCACCACAAAGACCTGATCAT	0.463000													33	165					0	0	0.003755	0	0
PRKACA	5566	broad.mit.edu	37	19	14213654	14213654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:14213654G>A	ENST00000308677.4	-	4	506	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.L96F|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	104	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGTTTGACGAGGAACGGAAAG	0.592000													54	121					0	0	0.014410	0	0
SCAND3	114821	broad.mit.edu	37	6	28542960	28542960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28542960G>A	ENST00000452236.2	-	3	2139	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	508	Integrase catalytic.				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						TGATAGGGCTGATTTTGGGAC	0.423000													40	94					0	0	0.005524	0	0
PABPN1	8106	broad.mit.edu	37	14	23794485	23794485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23794485C>T	ENST00000216727.4	+	7	1092	c.911C>T	c.(910-912)tCc>tTc	p.S304F	PABPN1_ENST00000397276.2_3'UTR|PABPN1_ENST00000556821.1_Missense_Mutation_p.S176F|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S331F|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S331F	NM_004643.3	NP_004634.1			poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCATGGTATTCCCCTTACTAA	0.393000													59	150					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38691148	38691148	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38691148G>A	ENST00000449981.2	+	3	535	c.426G>A	c.(424-426)ctG>ctA	p.L142L	DNAH8_ENST00000359357.3_5'UTR					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCCGAAGACTGAAAATTGACC	0.338000													55	127					0	0	0.014410	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337516	22337516	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22337516G>A	ENST00000390436.2	+	0	330																											CCAACCTGAAGACTCGGCTGT	0.498000													18	83					0	0	0.006122	0	0
DOCK3	1795	broad.mit.edu	37	3	51196675	51196675	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:51196675G>A	ENST00000266037.9	+	11	852	c.828_splice	c.e11-1	p.D277_splice		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	277						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTCTCTTAGGATCTGAGCAG	0.343000													36	112					0	0	0.004289	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356519	22356519	+	RNA	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22356519A>G	ENST00000390437.2	+	0	282																											GGTACAGACAATATTCTGGGA	0.468000													42	90					0	0	0.008740	0	0
GHSR	2693	broad.mit.edu	37	3	172163036	172163036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:172163036C>T	ENST00000241256.2	-	2	1058	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	339					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGGTTCGAATCCCAGAAGTCT	0.483000													55	191					0	0	0.014410	0	0
MXI1	4601	broad.mit.edu	37	10	111967831	111967831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:111967831G>T	ENST00000332674.5	+	1	469	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	RP11-549L6.3_ENST00000451656.1_RNA	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	25	Helix-loop-helix motif.				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GATCGAGAAAGAAAACAAAAG	0.577000													22	34					1.55469e-16	1.58806e-16	0.003330	1	0
DUOX1	53905	broad.mit.edu	37	15	45440472	45440472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:45440472C>T	ENST00000321429.4	+	22	3052	c.2645C>T	c.(2644-2646)tCc>tTc	p.S882F	DUOX1_ENST00000561166.1_Missense_Mutation_p.S528F|DUOX1_ENST00000389037.3_Missense_Mutation_p.S882F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	882	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AACCCCAGATCCTTCATCGAG	0.602000													26	71					0	0	0.003954	0	0
RNF17	56163	broad.mit.edu	37	13	25404622	25404622	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25404622G>A	ENST00000255324.5	+	17	2298	c.2245_splice	c.e17-1	p.G749_splice	RNF17_ENST00000381921.1_Splice_Site_p.G749_splice	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	749	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTTTTCAAGGATTGCCTGGA	0.303000													36	64					0	0	0.004289	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427609	25427609	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:25427609G>A	ENST00000424208.1	+	0	272				SNHG14_ENST00000365306.1_RNA	NR_003305.1																						ATTACGCTGAGGCCCAGTCTA	0.532000													153	366					0	0	0.014410	0	0
LEF1	51176	broad.mit.edu	37	4	109002741	109002741	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:109002741C>T	ENST00000265165.1	-	6	1377		c.e6+1		LEF1_ENST00000510624.1_Intron|LEF1_ENST00000379951.2_Intron|LEF1_ENST00000438313.2_Intron	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CCTCCACCTACCTGGACATGG	0.562000													8	42					0	0	0.006214	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038271	16038271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:16038271C>T	ENST00000326742.7	-	3	367	c.366G>A	c.(364-366)atG>atA	p.M122I	CYP4F11_ENST00000248041.7_Missense_Mutation_p.M122I|CYP4F11_ENST00000402119.3_Missense_Mutation_p.M122I			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	122					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CATAGAAAATCATATCCTTGG	0.537000													118	516					0	0	0.014410	0	0
ITGB5	3693	broad.mit.edu	37	3	124515329	124515329	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124515329G>A	ENST00000296181.4	-	10	1895	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	533	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CGAAGCAGGAGCACTGGTTGC	0.597000													102	115					0	0	0.014410	0	0
AQP6	363	broad.mit.edu	37	12	50369372	50369372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:50369372G>A	ENST00000315520.5	+	4	1104	c.767G>A	c.(766-768)gGg>gAg	p.G256E	AQP6_ENST00000551733.1_Missense_Mutation_p.G82E	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	256					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GTAGAGGTGGGGACAGGGGCA	0.652000													42	116					0	0	0.006230	0	0
BRINP2	57795	broad.mit.edu	37	1	177250385	177250385	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177250385C>T	ENST00000361539.4	+	8	2385	c.2073C>T	c.(2071-2073)ccC>ccT	p.P691P	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		691						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACAGCCTGCCCTTTGACCCAG	0.478000													82	253					0	0	0.014410	0	0
MYO16	23026	broad.mit.edu	37	13	109704812	109704812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:109704812G>A	ENST00000356711.2	+	25	3097	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	MYO16_ENST00000357550.2_Missense_Mutation_p.E991K|MYO16_ENST00000457511.2_Missense_Mutation_p.E503K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	991	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAATTATCTAGAACTTAGTAA	0.284000													41	23					0	0	0.008740	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751923	26751923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:26751923G>A	ENST00000396641.2	+	2	1352	c.760G>A	c.(760-762)Gat>Aat	p.D254N	LRRC3B_ENST00000456208.2_Missense_Mutation_p.D254N|LRRC3B_ENST00000417744.1_Missense_Mutation_p.D254N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	254						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGAACCTGATGATATTAGCAC	0.428000													14	26					0	0	0.004007	0	0
OR4D2	124538	broad.mit.edu	37	17	56247769	56247769	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:56247769C>T	ENST00000545221.1	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCATGATCTTCGTTCCAAGCA	0.537000													60	181					0	0	0.014410	0	0
SEC22B	9554	broad.mit.edu	37	1	145115982	145115982	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:145115982C>T	ENST00000453618.1	+	0	1068							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GTATTAGAATCCAAGTGGAAC	0.398000													7	71					0	0	0.001984	0	0
ADAM11	4185	broad.mit.edu	37	17	42849670	42849670	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:42849670C>T	ENST00000200557.6	+	7	748	c.579C>T	c.(577-579)ctC>ctT	p.L193L	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	193					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGACCCCTCTCCTCCCAGATC	0.672000													7	26					0	0	0.008291	0	0
MUC3A	4584	broad.mit.edu	37	7	100552243	100552243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100552243C>T	ENST00000319509.7	+	1	994	c.994C>T	c.(994-996)Cct>Tct	p.P332S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACCATAGTCCCTGCCTCTCC	0.478000													92	702					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38862615	38862615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38862615G>A	ENST00000359357.3	+	57	8325	c.8071G>A	c.(8071-8073)Gag>Aag	p.E2691K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E2908K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E2655K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCAAACACGAGTGCAGCAG	0.403000													13	28					0	0	0.001855	0	0
KDM1A	23028	broad.mit.edu	37	1	23356988	23356988	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:23356988C>T	ENST00000400181.4	+	2	482	c.378C>T	c.(376-378)agC>agT	p.S126S	KDM1A_ENST00000356634.3_Silent_p.S126S|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.S126S	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	126					blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGATGAAAGCTTGGCCAACC	0.438000													22	51					0	0	0.003330	0	0
CLASP1	23332	broad.mit.edu	37	2	122125381	122125381	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:122125381G>A	ENST00000263710.4	-	35	4058	c.3669C>T	c.(3667-3669)tcC>tcT	p.S1223S	CLASP1_ENST00000545861.1_Silent_p.S930S|CLASP1_ENST00000455322.2_Silent_p.S1179S|CLASP1_ENST00000541377.1_Silent_p.S1162S|CLASP1_ENST00000409078.3_Silent_p.S1156S|CLASP1_ENST00000541859.1_Silent_p.S940S|CLASP1_ENST00000397587.3_Silent_p.S1163S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1223					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CAGTGGCAGGGGAGGCAGCGC	0.577000													30	75					0	0	0.010818	0	0
KMT2D	8085	broad.mit.edu	37	12	49424543	49424543	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:49424543G>A	ENST00000301067.7	-	41	13679	c.13680C>T	c.(13678-13680)tcC>tcT	p.S4560S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGGCAGCAGGGACAGCTCCT	0.592000													41	114					0	0	0.014410	0	0
COL6A3	1293	broad.mit.edu	37	2	238280757	238280757	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:238280757C>T	ENST00000295550.4	-	9	4355	c.3903G>A	c.(3901-3903)cgG>cgA	p.R1301R	COL6A3_ENST00000353578.4_Silent_p.R1095R|COL6A3_ENST00000346358.4_Silent_p.R1101R|COL6A3_ENST00000409809.1_Silent_p.R1095R|COL6A3_ENST00000472056.1_Silent_p.R694R|COL6A3_ENST00000347401.3_Silent_p.R1100R|COL6A3_ENST00000392003.2_Silent_p.R894R|COL6A3_ENST00000392004.3_Silent_p.R1095R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1301	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGGCCTCAGCCGCTGCACCG	0.617000													40	94					0	0	0.013114	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672624	113672624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:113672624C>T	ENST00000330212.3	+	3	538	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P74L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	80						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CTCCGAATTCCTTGGCTTAGG	0.458000													126	158					0	0	0.014410	0	0
MS4A2	2206	broad.mit.edu	37	11	59863121	59863121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:59863121G>A	ENST00000278888.3	+	7	829	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	243					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCCTCCCATTGATTTATAAGA	0.423000													16	29					0	0	0.006122	0	0
CEP70	80321	broad.mit.edu	37	3	138248045	138248045	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138248045T>A	ENST00000264982.3	-	10	1131	c.865A>T	c.(865-867)Acc>Tcc	p.T289S	CEP70_ENST00000489254.1_Missense_Mutation_p.T137S|CEP70_ENST00000542237.1_Missense_Mutation_p.T269S|CEP70_ENST00000484888.1_Missense_Mutation_p.T289S|CEP70_ENST00000481834.1_Missense_Mutation_p.T289S	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	289					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCTCACCTGGTTTCCAAATCT	0.398000													86	289					0	0	0.014410	0	0
ITIH2	3698	broad.mit.edu	37	10	7786917	7786917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:7786917G>A	ENST00000358415.4	+	19	2738	c.2572G>A	c.(2572-2574)Gga>Aga	p.G858R	ITIH2_ENST00000379587.4_Missense_Mutation_p.G847R	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	858					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAAAGCCCACGGACTAATAGG	0.448000													35	54					0	0	0.003271	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438352	85438352	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:85438352G>A	ENST00000394573.1	+	6	661	c.459G>A	c.(457-459)aaG>aaA	p.K153K	SLC28A1_ENST00000538177.1_Silent_p.K153K|SLC28A1_ENST00000537624.1_Silent_p.K153K|SLC28A1_ENST00000338602.2_Silent_p.K153K|SLC28A1_ENST00000286749.3_Silent_p.K153K|SLC28A1_ENST00000537703.1_Silent_p.K75K|SLC28A1_ENST00000537216.1_Silent_p.K153K	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	153					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTGGTTTAAGAGGTGAGTGA	0.642000													33	77					0	0	0.010818	0	0
FAM196A	642938	broad.mit.edu	37	10	128973962	128973962	+	Missense_Mutation	SNP	C	C	T	rs139810222		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:128973962C>T	ENST00000522781.1	-	4	1253	c.698G>A	c.(697-699)gGg>gAg	p.G233E	FAM196A_ENST00000424811.2_Missense_Mutation_p.G233E|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	233										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTGGCCTCCCCCGGTCCTG	0.647000													21	17					0	0	0.003330	0	0
TTC26	79989	broad.mit.edu	37	7	138874089	138874089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:138874089C>T	ENST00000464848.1	+	18	1656	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	TTC26_ENST00000478836.2_Missense_Mutation_p.H419Y|TTC26_ENST00000495038.1_Missense_Mutation_p.H395Y|TTC26_ENST00000430935.1_Missense_Mutation_p.P481L|TTC26_ENST00000343187.4_Missense_Mutation_p.H495Y			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	526							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGAAGTGCTCCATTTACTGAG	0.378000													142	273					0	0	0.014410	0	0
CCDC103	388389	broad.mit.edu	37	17	42979994	42979994	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:42979994C>T	ENST00000417826.2	+	4	633	c.538C>T	c.(538-540)Cta>Tta	p.L180L	FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Silent_p.L180L|FAM187A_ENST00000412523.2_Intron	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	180										endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				CACCCTGAACCTAAGCCTGCT	0.647000													34	98					0	0	0.003271	0	0
EP400	57634	broad.mit.edu	37	12	132498142	132498142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:132498142C>T	ENST00000333577.4	+	19	3936	c.3827C>T	c.(3826-3828)tCc>tTc	p.S1276F	EP400_ENST00000389562.2_Missense_Mutation_p.S1239F|EP400_ENST00000389561.2_Missense_Mutation_p.S1240F|EP400_ENST00000332482.4_Missense_Mutation_p.S1203F|EP400_ENST00000330386.6_Missense_Mutation_p.S1240F			Q96L91	EP400_HUMAN	E1A binding protein p400	1276	Interactions with RUVBL1 and RUVBL2.				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)		TACCTGAGCTCCCCTCTGAGG	0.537000													34	100					0	0	0.003271	0	0
PREX2	80243	broad.mit.edu	37	8	69030803	69030803	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:69030803G>A	ENST00000288368.4	+	27	3622	c.3345G>A	c.(3343-3345)agG>agA	p.R1115R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1115					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAGCAATAGGAATTCCATCG	0.463000													49	90					0	0	0.014410	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564531	66564531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:66564531G>A	ENST00000360242.5	+	6	1246	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E377K|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E377K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E377K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	377										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GCAGGGACTGGAGAGAGAAAA	0.398000													26	46					0	0	0.004656	0	0
ADAM7	8756	broad.mit.edu	37	8	24358371	24358371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:24358371C>T	ENST00000175238.6	+	19	2154	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	ADAM7_ENST00000380789.1_Missense_Mutation_p.R691C|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.R463C|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	691					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R691C(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTATTAGTTCGTTACCGAAA	0.373000													26	62					0	0	0.005443	0	0
ZNF177	7730	broad.mit.edu	37	19	9492219	9492219	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9492219C>T	ENST00000541595.2	+	12	1361	c.732C>T	c.(730-732)tcC>tcT	p.S244S	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602738.1_Silent_p.S244S|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000589262.1_Silent_p.S404S|ZNF177_ENST00000343499.4_Silent_p.S244S|ZNF177_ENST00000434737.2_Silent_p.S404S	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	244					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GTGGAAAGTCCTTCAGCACAG	0.453000													43	122					0	0	0.008740	0	0
INSL6	11172	broad.mit.edu	37	9	5185587	5185587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:5185587G>A	ENST00000381641.3	-	1	81	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	6						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AGGGACAAGCGGAGGAGCCGC	0.647000													17	21					0	0	0.004007	0	0
SSPO	23145	broad.mit.edu	37	7	149521696	149521696	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149521696C>T	ENST00000378016.2	+	0	13775							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGACTGGAGCCCCTCACCTC	0.697000													17	29					0	0	0.004990	0	0
C4orf40	401137	broad.mit.edu	37	4	71024317	71024317	+	Silent	SNP	G	G	A	rs148239542		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:71024317G>A	ENST00000344526.5	+	3	537	c.348G>A	c.(346-348)agG>agA	p.R116R	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.R116R	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	116						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAG	0.547000													119	230					0	0	0.014410	0	0
PROKR2	128674	broad.mit.edu	37	20	5294770	5294770	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:5294770C>T	ENST00000546004.1	-	2	492	c.246G>A	c.(244-246)aaG>aaA	p.K82K	PROKR2_ENST00000217270.3_Silent_p.K82K			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	82						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCGCAACTTCTTATAGCGGG	0.547000										HNSCC(71;0.22)			49	126					0	0	0.014410	0	0
PLIN5	440503	broad.mit.edu	37	19	4534036	4534036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4534036C>T	ENST00000586020.1	-	2	157	c.104G>A	c.(103-105)aGg>aAg	p.R35K	PLIN5_ENST00000592610.1_Silent_p.Q17Q|PLIN5_ENST00000586133.1_Silent_p.Q17Q|PLIN5_ENST00000381848.3_Silent_p.Q17Q																							CCTGCTGGTCCTGCTCCCACA	0.607000													8	31					0	0	0.004482	0	0
KPNA6	23633	broad.mit.edu	37	1	32628862	32628862	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:32628862C>A	ENST00000373625.3	+	10	1031	c.938C>A	c.(937-939)cCt>cAt	p.P313H	KPNA6_ENST00000537234.1_Missense_Mutation_p.P310H|KPNA6_ENST00000545542.1_Missense_Mutation_p.P318H	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	313					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGGCTTCTCCTGCCCTGAGA	0.517000													8	38					0.00829132	0.00839916	0.008291	1	0
CHDC2	286464	broad.mit.edu	37	X	36116914	36116914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:36116914C>T	ENST00000378660.1	+	6	834	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	CHDC2_ENST00000313548.4_Nonsense_Mutation_p.Q216*					calponin homology domain containing 2																		TTTTAGTGCTCAAGGAGGATG	0.269000													4	5					0	0	0.009096	0	0
SLC6A13	6540	broad.mit.edu	37	12	344366	344366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:344366G>A	ENST00000343164.4	-	7	773	c.721C>T	c.(721-723)Cct>Tct	p.P241S	SLC6A13_ENST00000445055.2_Missense_Mutation_p.P149S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	241					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGAGGTAAGGAAATGTGGCC	0.562000													15	53					0	0	0.004007	0	0
ZNF786	136051	broad.mit.edu	37	7	148768478	148768478	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148768478G>A	ENST00000316286.9	-	3	1400	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	ZNF786_ENST00000491431.1_Silent_p.F462F|ZNF786_ENST00000451334.3_Silent_p.F425F			Q8N393	ZN786_HUMAN	zinc finger protein 786	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTCTGACGGAAGTTCCTGC	0.612000													12	46					0	0	0.013537	0	0
COBL	23242	broad.mit.edu	37	7	51097060	51097060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:51097060G>A	ENST00000395542.2	-	12	2163	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	COBL_ENST00000265136.7_Missense_Mutation_p.S578F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	578										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGCGCCAGGGAGTCTCTCCT	0.552000													18	64					0	0	0.006122	0	0
VCP	7415	broad.mit.edu	37	9	35066696	35066696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35066696C>T	ENST00000358901.6	-	4	1316	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	141					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGATACGCTTCCAGGAAGTAC	0.433000													16	66					0	0	0.004007	0	0
ERH	2079	broad.mit.edu	37	14	69847312	69847312	+	Nonsense_Mutation	SNP	C	C	T	rs11545983		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:69847312C>T	ENST00000557016.1	-	4	651	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ERH_ENST00000216520.6_5'UTR	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)	86					cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		TCTCTTTAATCCAGTCTTTGT	0.502000													30	95					0	0	0.003271	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261704	39261704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39261704G>A	ENST00000391415.1	+	1	121	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	22						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTCTGTCAGGAGACCTGCTG	0.647000													21	62					0	0	0.012319	0	0
LAMA2	3908	broad.mit.edu	37	6	129618834	129618834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:129618834G>A	ENST00000421865.2	+	21	2910	c.2861G>A	c.(2860-2862)gGg>gAg	p.G954E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	954	Laminin EGF-like 9.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCAGGCTGGGACCTTTGGC	0.448000													11	28					0	0	0.001855	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658152	121658152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:121658152C>T	ENST00000369075.3	+	2	449	c.377C>T	c.(376-378)tCc>tTc	p.S126F	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	126	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACAACTGGATCCCAAGATGTC	0.468000													81	100					0	0	0.014410	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999403	46999403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:46999403G>A	ENST00000374314.4	+	1	1478	c.523G>A	c.(523-525)Gac>Aac	p.D175N	GPRIN2_ENST00000374317.1_Missense_Mutation_p.D175N			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	175										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCTGGAAAGGGACCTGGCTCC	0.637000													16	52					0	0	0.008871	0	0
UGGT1	56886	broad.mit.edu	37	2	128918777	128918777	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:128918777C>T	ENST00000375990.3	+	25	3091	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	UGGT1_ENST00000259253.6_Silent_p.I920I			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	920					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCGAAAATATCATCTTAAAAA	0.423000													48	119					0	0	0.013114	0	0
BMP8B	656	broad.mit.edu	37	1	40229398	40229398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:40229398C>T	ENST00000372827.3	-	5	1309	c.934G>A	c.(934-936)Gac>Aac	p.D312N	BMP8B_ENST00000397360.2_Missense_Mutation_p.D337N|PPIE_ENST00000356511.2_Missense_Mutation_p.S292F|PPIE_ENST00000372830.1_3'UTR	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	312					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCCGAGGTCCTGGAAGCTG	0.557000													9	183					0	0	0.006122	0	0
ABO	28	broad.mit.edu	37	9	136136727	136136727	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:136136727C>T	ENST00000453660.2	-	0	160							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TCACCAGAACCCCCGTTCCAG	0.607000													7	10					0	0	0.001984	0	0
ARPP21	10777	broad.mit.edu	37	3	35729253	35729253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:35729253C>T	ENST00000187397.4	+	6	740	c.284C>T	c.(283-285)tCc>tTc	p.S95F	ARPP21_ENST00000458225.1_Missense_Mutation_p.S95F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S95F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S95F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S95F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	95						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTACAGCTTTCCAGTTTTTCC	0.358000													30	40					0	0	0.012213	0	0
PCNXL3	399909	broad.mit.edu	37	11	65392945	65392945	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65392945C>T	ENST00000355703.3	+	18	3638	c.3099C>T	c.(3097-3099)ccC>ccT	p.P1033P		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1033						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGCCGAGCCCCCGGACCCCT	0.697000													30	53					0	0	0.003755	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443052	1443052	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:1443052G>A	ENST00000270349.9	-	2	388	c.261C>T	c.(259-261)ccC>ccT	p.P87P	SLC6A3_ENST00000453492.2_Silent_p.P87P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	87					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCACAGGTAGGGGAACCGCC	0.632000													53	152					0	0	0.014410	0	0
SRRM4	84530	broad.mit.edu	37	12	119419818	119419818	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:119419818G>A	ENST00000267260.4	+	1	519	c.131_splice	c.e1+1	p.R44_splice		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	44					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCGCTGCCAAGGTAATGATCT	0.622000													6	16					0	0	0.004482	0	0
ELMO1	9844	broad.mit.edu	37	7	37283972	37283972	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:37283972G>A	ENST00000310758.4	-	7	1085	c.438C>T	c.(436-438)atC>atT	p.I146I	ELMO1_ENST00000448602.1_Silent_p.I146I|ELMO1_ENST00000442504.1_Silent_p.I146I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	146					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AAGGCTTCATGATCTTCTGCA	0.348000													6	83					0	0	0.001984	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594835	140594835	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140594835G>A	ENST00000341948.4	+	1	1327	c.1140G>A	c.(1138-1140)ggG>ggA	p.G380G		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		380	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAAAATGGGAAAATTAGTT	0.448000													121	145					0	0	0.014410	0	0
RPRM	56475	broad.mit.edu	37	2	154334761	154334761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:154334761C>T	ENST00000325926.3	-	1	561	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	107					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						CAGTAGGGCCCCACGACCACC	0.647000													11	26					0	0	0.010729	0	0
GPR108	56927	broad.mit.edu	37	19	6732083	6732083	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6732083G>A	ENST00000264080.7	-	13	1235	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	GPR108_ENST00000430424.4_Silent_p.F161F	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	403						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGTCCACCAGGAACAAAATCT	0.642000													33	59					0	0	0.013726	0	0
MCHR2	84539	broad.mit.edu	37	6	100369020	100369020	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:100369020C>T	ENST00000281806.2	-	6	1133	c.819G>A	c.(817-819)gtG>gtA	p.V273V	MCHR2_ENST00000369212.1_Silent_p.V273V|MCHR2_ENST00000445970.1_Silent_p.V273V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTGTAAGTTCACCAGTTGTA	0.468000													49	60					0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10429022	10429022	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10429022C>T	ENST00000245503.5	-	31	4743	c.4359G>A	c.(4357-4359)agG>agA	p.R1453R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.R1453R|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1453					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						TATCGAAGTTCCTTTGCTTTT	0.483000													45	62					0	0	0.013114	0	0
RGS7	6000	broad.mit.edu	37	1	241094032	241094032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:241094032C>T	ENST00000366565.1	-	6	751	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	RGS7_ENST00000407727.1_Missense_Mutation_p.E124K|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Missense_Mutation_p.E98K|RGS7_ENST00000446183.2_Missense_Mutation_p.E40K|RGS7_ENST00000366564.1_Missense_Mutation_p.E124K|RGS7_ENST00000366563.1_Missense_Mutation_p.E124K|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.E124K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	124					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGTGTTTTCCGGCTCCCAA	0.383000													136	248					0	0	0.014410	0	0
CYP46A1	10858	broad.mit.edu	37	14	100188396	100188396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:100188396C>T	ENST00000261835.3	+	12	1273	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	CYP46A1_ENST00000423126.2_Missense_Mutation_p.P293L|CYP46A1_ENST00000554176.1_Intron	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	390					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCAACACCCCGCTCTTGGTG	0.637000													33	78					0	0	0.013726	0	0
MUC16	94025	broad.mit.edu	37	19	9047708	9047708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9047708G>A	ENST00000397910.4	-	5	34126	c.33923C>T	c.(33922-33924)tCa>tTa	p.S11308L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11310	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						AATAGTTGTTGAAATGGCTGA	0.488000													21	56					0	0	0.010504	0	0
YTHDC1	91746	broad.mit.edu	37	4	69182130	69182130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69182130G>A	ENST00000344157.4	-	16	2196	c.1861C>T	c.(1861-1863)Cct>Tct	p.P621S	YTHDC1_ENST00000579690.1_Missense_Mutation_p.P629S|YTHDC1_ENST00000355665.3_Missense_Mutation_p.P603S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	621	Pro-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGATAGTAAGGATGGTGTGGA	0.443000													39	103					0	0	0.005524	0	0
BCL7C	9274	broad.mit.edu	37	16	30904032	30904032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:30904032G>A	ENST00000380317.4	-	4	674	c.317C>T	c.(316-318)tCc>tTc	p.S106F	BCL7C_ENST00000215115.4_Missense_Mutation_p.S106F|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000570025.1_RNA|AC106782.20_ENST00000572471.1_RNA			Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	106					apoptosis			p.S106F(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			CTTTTGCAGGGAACCTTCCGA	0.627000													32	125					0	0	0.005524	0	0
TMEM127	55654	broad.mit.edu	37	2	96920668	96920668	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96920668G>A	ENST00000258439.2	-	3	568	c.312C>T	c.(310-312)atC>atT	p.I104I	TMEM127_ENST00000435268.1_Silent_p.I20I|TMEM127_ENST00000432959.1_Silent_p.I104I	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	104					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GACTACACAGGATGCCCAGGA	0.542000													53	136					0	0	0.014410	0	0
OR4E2	26686	broad.mit.edu	37	14	22134220	22134220	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22134220C>T	ENST00000408935.1	+	1	924	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AAGTTTTTTTCACGAAATCAT	0.393000													7	21					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238266502	238266502	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:238266502C>T	ENST00000295550.4	-	22	6947	c.6495G>A	c.(6493-6495)caG>caA	p.Q2165Q	COL6A3_ENST00000353578.4_Silent_p.Q1959Q|COL6A3_ENST00000346358.4_Silent_p.Q1965Q|COL6A3_ENST00000409809.1_Silent_p.Q1959Q|COL6A3_ENST00000472056.1_Silent_p.Q1558Q|COL6A3_ENST00000347401.3_Silent_p.Q1964Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2165	Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCCTCTCTCCTGGCTGTCTT	0.542000													133	354					0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32035616	32035616	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32035616G>A	ENST00000375244.3	-	18	6567	c.6366C>T	c.(6364-6366)ttC>ttT	p.F2122F	TNXB_ENST00000375247.2_Silent_p.F2122F			P22105	TENX_HUMAN	tenascin XB	2194	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGAAGGAGTCGAAGCGGCCCT	0.692000													132	371					0	0	0.014410	0	0
ASS1	445	broad.mit.edu	37	9	133333811	133333811	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:133333811G>A	ENST00000372394.1	+	5	679	c.198G>A	c.(196-198)agG>agA	p.R66R	ASS1_ENST00000352480.5_Silent_p.R66R|ASS1_ENST00000372393.3_Silent_p.R66R			P00966	ASSY_HUMAN	argininosuccinate synthase 1	66					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATGTCAGCAGGGAGTTTGTGG	0.607000													32	103					0	0	0.012213	0	0
SMYD1	150572	broad.mit.edu	37	2	88410017	88410017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:88410017C>T	ENST00000419482.2	+	10	1544	c.1459C>T	c.(1459-1461)Cac>Tac	p.H487Y	SMYD1_ENST00000444564.2_Missense_Mutation_p.H474Y|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGCTCTGTTCCACAAGAAGCA	0.592000													5	11					0	0	0.000602	0	0
OR6C1	390321	broad.mit.edu	37	12	55714733	55714733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55714733C>T	ENST00000379668.2	+	1	388	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GCTGCCATGTCCTATGACCGC	0.408000													11	26					0	0	0.008291	0	0
ZNF462	58499	broad.mit.edu	37	9	109734356	109734356	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:109734356G>A	ENST00000277225.5	+	8	6787	c.6498G>A	c.(6496-6498)agG>agA	p.R2166R	ZNF462_ENST00000441147.2_Silent_p.R1072R|ZNF462_ENST00000457913.1_Silent_p.R2226R|ZNF462_ENST00000542028.1_Silent_p.R123R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCTGGCAAGGAACAACAGCC	0.527000													24	62					0	0	0.003330	0	0
PIPOX	51268	broad.mit.edu	37	17	27380543	27380543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:27380543G>A	ENST00000323372.4	+	4	916	c.590G>A	c.(589-591)aGc>aAc	p.S197N	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	197					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CAAGCTAAGAGCTTGGTCATC	0.572000													42	130					0	0	0.011902	0	0
KIF15	56992	broad.mit.edu	37	3	44881943	44881943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:44881943C>T	ENST00000326047.4	+	28	3564	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	KIF15_ENST00000425755.1_Missense_Mutation_p.P774S	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1139					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGCTGAGGATCCCCAGGTACT	0.338000													72	91					0	0	0.014410	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900131	125900131	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:125900131C>T	ENST00000299308.3	+	3	1007	c.999C>T	c.(997-999)gaC>gaT	p.D333D		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	333						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGTGAGGACCAATGGGCAG	0.502000													30	97					0	0	0.009535	0	0
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57233561G>A	ENST00000343433.6	-	5	1084	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	335								p.S335L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTCAGATATGAAATTGTTGC	0.353000													27	86					0	0	0.008361	0	0
GDF2	2658	broad.mit.edu	37	10	48413836	48413836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:48413836C>T	ENST00000249598.1	-	2	1191	c.1032G>A	c.(1030-1032)tgG>tgA	p.W344*		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	344					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTGCAATGATCCAGCTGTCCC	0.587000													40	79					0	0	0.008740	0	0
DROSHA	29102	broad.mit.edu	37	5	31515325	31515325	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:31515325G>A	ENST00000511367.2	-	7	1304	c.1058_splice	c.e7-1	p.R354_splice	DROSHA_ENST00000344624.3_Splice_Site_p.R354_splice|DROSHA_ENST00000513349.1_Splice_Site_p.R317_splice|DROSHA_ENST00000442743.1_Splice_Site_p.R317_splice	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	354					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTTGGGGAGCGACTTCAAAAG	0.393000													32	76					0	0	0.010818	0	0
KATNB1	10300	broad.mit.edu	37	16	57787413	57787413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:57787413C>T	ENST00000379661.3	+	12	1551	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	387	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CGAGATCTTCCAGCCCAAGAA	0.677000													21	76					0	0	0.014323	0	0
ETNK1	55500	broad.mit.edu	37	12	22812064	22812064	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:22812064T>G	ENST00000266517.4	+	3	889	c.800T>G	c.(799-801)tTt>tGt	p.F267C		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	267					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCACAGGATTTGCAGATGAA	0.328000													10	51					0	0	0.008291	0	0
KRT2	3849	broad.mit.edu	37	12	53038983	53038983	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53038983C>T	ENST00000309680.3	-	9	1761	c.1740G>A	c.(1738-1740)aaG>aaA	p.K580K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	580	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGACCCTCCCTTAGAGCCAC	0.577000													131	336					0	0	0.014410	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153275062	153275062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153275062C>T	ENST00000290722.1	-	5	603	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	184					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGCAGATCGTTTGATGAT	0.468000													30	130					0	0	0.008361	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136319683	136319683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:136319683G>A	ENST00000371929.3	+	24	3635	c.3191G>A	c.(3190-3192)aGt>aAt	p.S1064N	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.S1033N|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.S1064N	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1064	TSP type-1 7.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCGAGGCCAGTGTCCCCTGT	0.677000													21	51					0	0	0.002780	0	0
CHST2	9435	broad.mit.edu	37	3	142840669	142840669	+	Silent	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:142840669G>T	ENST00000309575.3	+	2	2395	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	337					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCCGCGCGGTGGCGAGTTCAC	0.682000													9	31					5.4927e-09	5.58892e-09	0.004482	1	0
RPL34	6164	broad.mit.edu	37	4	109546299	109546299	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:109546299C>T	ENST00000394668.2	+	5	351	c.285C>T	c.(283-285)ttC>ttT	p.F95F	RPL34_ENST00000502534.1_Silent_p.F95F|RPL34_ENST00000394667.3_Silent_p.F95F|RPL34_ENST00000506397.1_Silent_p.F95F|RPL34_ENST00000394665.1_Silent_p.F95F	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		AGCGTGCTTTCCTTATCGAGG	0.318000													14	26					0	0	0.003163	0	0
XKR6	286046	broad.mit.edu	37	8	10755610	10755610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10755610C>T	ENST00000416569.2	-	3	1804	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	XKR6_ENST00000304437.2_Missense_Mutation_p.R314Q	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	593						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGCTGGGTATCGCTTTCTTGG	0.517000													32	67					0	0	0.010818	0	0
ZNF516	9658	broad.mit.edu	37	18	74091180	74091180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:74091180G>A	ENST00000443185.2	-	4	3207	c.2890C>T	c.(2890-2892)Ccc>Tcc	p.P964S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	964					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTATTTGTGGGGGCAAAGCCA	0.657000													35	65					0	0	0.006999	0	0
ZNF831	128611	broad.mit.edu	37	20	57829649	57829649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:57829649C>T	ENST00000371030.2	+	5	4885	c.4885C>T	c.(4885-4887)Cct>Tct	p.P1629S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1629						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTCTGTGGTTCCTTCTAAGCC	0.478000													17	51					0	0	0.004007	0	0
EYA1	2138	broad.mit.edu	37	8	72111625	72111625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:72111625G>A	ENST00000340726.3	-	18	2368	c.1729C>T	c.(1729-1731)Cac>Tac	p.H577Y	EYA1_ENST00000303824.7_Missense_Mutation_p.H571Y|EYA1_ENST00000419131.1_Missense_Mutation_p.H542Y|EYA1_ENST00000388741.2_Missense_Mutation_p.H543Y|EYA1_ENST00000388742.4_Missense_Mutation_p.H577Y|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000388743.2_Missense_Mutation_p.H576Y|EYA1_ENST00000388740.3_Missense_Mutation_p.H544Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	577					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGGTCCGAGTGGCTGGAGATC	0.587000													3	22					0	0	0.009096	0	0
FMN2	56776	broad.mit.edu	37	1	240256893	240256893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:240256893G>A	ENST00000319653.9	+	1	1714	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	495					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCACGCCCCGGGTGGGAGGC	0.781000													11	12					0	0	0.010729	0	0
CRB2	286204	broad.mit.edu	37	9	126132962	126132962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:126132962C>T	ENST00000373631.3	+	7	1631	c.1630C>T	c.(1630-1632)Ctc>Ttc	p.L544F	CRB2_ENST00000359999.3_Missense_Mutation_p.L544F|CRB2_ENST00000373629.2_Missense_Mutation_p.L212F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	544	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCCTGCCCGGCTCTGTGTGGC	0.667000													55	131					0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3224691	3224691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:3224691G>A	ENST00000520002.1	-	21	3536	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	CSMD1_ENST00000537824.1_Missense_Mutation_p.S993F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S993F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S993F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S994F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S994F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S994F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	994	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACGGGCTCGGAAAAACTTCC	0.498000													8	13					0	0	0.003080	0	0
PHKG2	5261	broad.mit.edu	37	16	30762461	30762461	+	Nonsense_Mutation	SNP	C	C	T	rs137853590		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:30762461C>T	ENST00000563588.1	+	3	369	c.130C>T	c.(130-132)Cga>Tga	p.R44*	PHKG2_ENST00000328273.7_Nonsense_Mutation_p.R44*|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Nonsense_Mutation_p.R44*	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	44	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TTGTGTTCATCGAGCTACTGG	0.592000													23	86					0	0	0.004656	0	0
STXBP1	6812	broad.mit.edu	37	9	130423393	130423393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:130423393C>T	ENST00000373302.3	+	6	477	c.338C>T	c.(337-339)gCc>gTc	p.A113V	STXBP1_ENST00000373299.1_Missense_Mutation_p.A113V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	113					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGTCCAGATGCCCTGTTTAAT	0.438000													34	97					0	0	0.004878	0	0
LRP10	26020	broad.mit.edu	37	14	23346485	23346485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23346485C>T	ENST00000359591.4	+	7	2582	c.1891C>T	c.(1891-1893)Ccc>Tcc	p.P631S	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	631	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GTCTCCAGCCCCCACTACTGT	0.672000													57	160					0	0	0.014410	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10912037	10912037	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:10912037C>T	ENST00000381661.3	+	7	652	c.543C>T	c.(541-543)ctC>ctT	p.L181L	ATP6V1C2_ENST00000272238.4_Silent_p.L181L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	181					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTGAATATCTCGTCACACTTC	0.552000													33	263					0	0	0.003271	0	0
OR2D2	120776	broad.mit.edu	37	11	6913459	6913459	+	Silent	SNP	G	G	A	rs149994988		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6913459G>A	ENST00000299459.2	-	1	371	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAATGCAATGACCTTCTTTC	0.463000													5	37					0	0	0.000602	0	0
NFIC	4782	broad.mit.edu	37	19	3381895	3381895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:3381895G>A	ENST00000589123.1	+	2	309	c.189G>A	c.(187-189)tgG>tgA	p.W63*	NFIC_ENST00000395111.3_Nonsense_Mutation_p.W63*|NFIC_ENST00000590282.1_Nonsense_Mutation_p.W72*|NFIC_ENST00000443272.2_Nonsense_Mutation_p.W72*|NFIC_ENST00000586919.1_Nonsense_Mutation_p.W63*|NFIC_ENST00000341919.3_Nonsense_Mutation_p.W72*|NFIC_ENST00000346156.5_Nonsense_Mutation_p.W63*	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	72					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGCAGAAGTGGGCGTCGCGGC	0.652000													66	157					0	0	0.014410	0	0
MYOM2	9172	broad.mit.edu	37	8	2037960	2037960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2037960G>A	ENST00000262113.4	+	15	1915	c.1774G>A	c.(1774-1776)Ggc>Agc	p.G592S	MYOM2_ENST00000523438.1_Missense_Mutation_p.G17S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	592	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAACCGGCATGGCCTGAGCGA	0.572000													29	70					0	0	0.008361	0	0
CCDC181	57821	broad.mit.edu	37	1	169388305	169388305	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169388305G>A	ENST00000545005.1	-	5	1668	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.V387V|CCDC181_ENST00000367806.3_Silent_p.V387V					coiled-coil domain containing 181																		TCATTTCTAAGACCTGCTCTC	0.343000													23	93					0	0	0.003330	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459056	45459056	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:45459056C>T	ENST00000548424.1	+	0	448																											AATTGGAGTTCGTTTCCTTCC	0.443000													12	32					0	0	0.010729	0	0
LYST	1130	broad.mit.edu	37	1	235866213	235866213	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:235866213A>G	ENST00000389794.3	-	45	10382	c.10208T>C	c.(10207-10209)aTg>aCg	p.M3403T	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.M3403T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3403	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTTTTTATCATGGTTTCTAG	0.478000													65	231					0	0	0.014410	0	0
PARP14	54625	broad.mit.edu	37	3	122404132	122404132	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122404132C>T	ENST00000474629.2	+	2	554	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGATGAAATCGATCATGTCT	0.413000													22	76					0	0	0.002780	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075882	144075882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:144075882C>T	ENST00000056217.5	+	14	4733	c.4559C>T	c.(4558-4560)gCc>gTc	p.A1520V	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.A442V	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1520	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGCCTTCGAGCCTACAAGCCC	0.562000													88	234					0	0	0.014410	0	0
MYO3A	53904	broad.mit.edu	37	10	26462592	26462592	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:26462592G>A	ENST00000265944.5	+	30	3565	c.3398_splice	c.e30-1	p.R1133_splice	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1133					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTTACACAGGGAATCTTTCG	0.338000													13	14					0	0	0.002450	0	0
MSR1	4481	broad.mit.edu	37	8	15967683	15967683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:15967683C>T	ENST00000350896.3	-	9	1275	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	MSR1_ENST00000445506.2_Missense_Mutation_p.E441K|MSR1_ENST00000262101.5_Missense_Mutation_p.E423K|MSR1_ENST00000355282.2_Missense_Mutation_p.E360K	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	423	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATAGATGATTCTCTCCCAAAA	0.373000													16	75					0	0	0.004990	0	0
DCDC2	51473	broad.mit.edu	37	6	24291289	24291289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:24291289C>T	ENST00000378454.3	-	5	876	c.575G>A	c.(574-576)gGa>gAa	p.G192E		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	192	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AACAAGTTTTCCTTCTAAAGT	0.348000													27	80					0	0	0.009535	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990451	15990451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15990451C>T	ENST00000221700.5	-	11	1372	c.1277G>A	c.(1276-1278)gGa>gAa	p.G426E	CYP4F2_ENST00000592328.1_Missense_Mutation_p.G426E	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	426					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						GTGATGGGTTCCGAAAACACT	0.587000													84	424					0	0	0.014410	0	0
SCN9A	6335	broad.mit.edu	37	2	167055481	167055481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:167055481C>T	ENST00000375387.4	-	27	6011	c.5671G>A	c.(5671-5673)Gat>Aat	p.D1891N	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1879N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D1890N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1891N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1890	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCAGACACATCCTCTTGTTTC	0.398000													82	205					0	0	0.014410	0	0
SQRDL	58472	broad.mit.edu	37	15	45974710	45974710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:45974710C>T	ENST00000260324.7	+	7	1285	c.899C>T	c.(898-900)cCa>cTa	p.P300L	SQRDL_ENST00000568606.1_Missense_Mutation_p.P300L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	300							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CCAATGAGCCCACCAGATGTC	0.458000													26	61					0	0	0.005443	0	0
CDH18	1016	broad.mit.edu	37	5	19591256	19591256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:19591256C>T	ENST00000507958.1	-	9	1899	c.909G>A	c.(907-909)atG>atA	p.M303I	CDH18_ENST00000382275.1_Missense_Mutation_p.M303I|CDH18_ENST00000502796.1_Missense_Mutation_p.M303I|CDH18_ENST00000506372.1_Missense_Mutation_p.M303I|CDH18_ENST00000274170.4_Missense_Mutation_p.M303I|CDH18_ENST00000511273.1_Missense_Mutation_p.M303I			Q13634	CAD18_HUMAN	cadherin 18, type 2	303	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGAGTAGGTCATGTCAGCAT	0.413000													15	61					0	0	0.006122	0	0
OR2A12	346525	broad.mit.edu	37	7	143792847	143792847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143792847C>T	ENST00000408949.2	+	1	707	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTGCTGGTCTCCTACTTGCAC	0.582000													76	233					0	0	0.014410	0	0
ZNF536	9745	broad.mit.edu	37	19	30936285	30936285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:30936285G>A	ENST00000355537.3	+	2	1963	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCAGTCGGGATTTTTTGTC	0.552000													67	105					0	0	0.014410	0	0
PTGER4	5734	broad.mit.edu	37	5	40681212	40681212	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40681212C>T	ENST00000302472.3	+	2	1141	c.117C>T	c.(115-117)atC>atT	p.I39I	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	39					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGTGGCCATCGTGGTGCTGT	0.607000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	120					0	0	0.014410	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464339	5464339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:5464339C>T	ENST00000296564.7	+	13	5114	c.4892C>T	c.(4891-4893)cCt>cTt	p.P1631L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1631	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGGGGCCTCCTTTGCCGCCT	0.498000													40	138					0	0	0.005524	0	0
FAM168B	130074	broad.mit.edu	37	2	131829478	131829478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:131829478G>A	ENST00000409185.1	-	3	211	c.104C>T	c.(103-105)cCt>cTt	p.P35L	FAM168B_ENST00000389915.3_Missense_Mutation_p.P35L	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	35										endometrium(3)|lung(2)	5						AGAATAGGCAGGAGCTGCTGC	0.463000													39	113					0	0	0.006999	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23058222	23058222	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:23058222G>A	ENST00000221132.3	-	5	745	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	227					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GGACACACTCGATGTCACTCC	0.587000													41	175					0	0	0.009718	0	0
TAF1L	138474	broad.mit.edu	37	9	32634966	32634966	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:32634966A>G	ENST00000242310.4	-	1	701	c.612T>C	c.(610-612)agT>agC	p.S204S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	204					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATCAGAGTAACTACTGAAAT	0.468000													50	114					0	0	0.014410	0	0
C14orf39	317761	broad.mit.edu	37	14	60903642	60903642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:60903642C>T	ENST00000321731.3	-	18	1844	c.1685G>A	c.(1684-1686)gGt>gAt	p.G562D		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	562										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TGAATTTTGACCCTGTCCAAA	0.318000													74	176					0	0	0.014410	0	0
NEFH	4744	broad.mit.edu	37	22	29881755	29881755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:29881755G>A	ENST00000310624.6	+	3	1160	c.1127G>A	c.(1126-1128)tGg>tAg	p.W376*		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	376	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AACACCAAGTGGGAGATGGCC	0.572000													16	71					0	0	0.003163	0	0
PLEK	5341	broad.mit.edu	37	2	68607869	68607869	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:68607869C>T	ENST00000234313.7	+	3	392	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	71	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGTTTAAGATCACTACGACCA	0.473000													51	124					0	0	0.014410	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635620	34635620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:34635620G>A	ENST00000342136.4	+	9	1689	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	IFNAR2_ENST00000342101.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.E455K			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	455					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TCATCTGGAAGAGATGGTTGA	0.498000													142	381					0	0	0.014410	0	0
KAL1	3730	broad.mit.edu	37	X	8565122	8565122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:8565122G>A	ENST00000262648.3	-	4	643	c.494C>T	c.(493-495)tCg>tTg	p.S165L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	165	WAP.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACACCCATTCGAACAACATTT	0.522000													27	29					0	0	0.010818	0	0
KCNA10	3744	broad.mit.edu	37	1	111061260	111061260	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:111061260C>T	ENST00000369771.2	-	1	537	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	50						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGATGAGGATCTTCCCGTTGG	0.557000													25	144					0	0	0.007291	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735717	55735717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55735717C>T	ENST00000312345.2	-	1	273	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTCCAAATGTCCATGAGCATT	0.383000													41	69					0	0	0.007835	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170360	107170360	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:107170360C>T	ENST00000390633.2	-	0	68																											CCTCCAGGTCCAGTCCATGGT	0.483000													23	71					0	0	0.003330	0	0
EIF4G3	8672	broad.mit.edu	37	1	21295998	21295998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:21295998C>T	ENST00000602326.1	-	10	1119	c.536G>A	c.(535-537)gGa>gAa	p.G179E	EIF4G3_ENST00000264211.8_Missense_Mutation_p.G172E|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G172E|EIF4G3_ENST00000374927.4_Missense_Mutation_p.G172E|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G172E|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G179E|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000356916.3_Missense_Mutation_p.G183E	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	172					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CGTGGGTCTTCCTATGGGTGG	0.458000													29	75					0	0	0.006320	0	0
ENPEP	2028	broad.mit.edu	37	4	111397602	111397602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:111397602G>A	ENST00000265162.5	+	1	374	c.32G>A	c.(31-33)aGa>aAa	p.R11K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	11					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGCTCTAAGAGATACTGCATT	0.438000													40	234					0	0	0.014410	0	0
CACNA1E	777	broad.mit.edu	37	1	181732646	181732646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:181732646G>A	ENST00000526775.1	+	33	4902	c.4737G>A	c.(4735-4737)tgG>tgA	p.W1579*	CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.W1549*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.W1598*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.W1579*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.W1598*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.W1530*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.W1205*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1598					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTTGCTGTGGACCTTTGTGC	0.493000													11	32					0	0	0.008291	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433935	72433935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:72433935C>T	ENST00000373517.3	-	1	749	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	132					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCATGAAATTCCCTCAGGAAT	0.383000													64	112					0	0	0.014410	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													5	58					0	0	0.004482	0	0
AXDND1	126859	broad.mit.edu	37	1	179414159	179414159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:179414159G>A	ENST00000367618.3	+	16	2005	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D540N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	540								p.D540N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTCAAAATACGATACTCTCAA	0.383000													42	137					0	0	0.014410	0	0
COL6A5	256076	broad.mit.edu	37	3	130159348	130159348	+	Missense_Mutation	SNP	G	G	A	rs113660207		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:130159348G>A	ENST00000265379.6	+	35	6660	c.6166G>A	c.(6166-6168)Gca>Aca	p.A2056T	COL6A5_ENST00000432398.2_Missense_Mutation_p.A2056T			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2056	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAATGGAGAAGCAACAATTGG	0.413000													40	49					0	0	0.008740	0	0
TMC3	342125	broad.mit.edu	37	15	81665050	81665050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:81665050C>T	ENST00000558726.1	-	2	253	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	TMC3_ENST00000359440.5_Missense_Mutation_p.E40K			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	40						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCCCCTGTTTCATCAGCACTA	0.448000													17	44					0	0	0.004007	0	0
BMP1	649	broad.mit.edu	37	8	22058683	22058683	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:22058683C>T	ENST00000306349.8	+	16	2314	c.2160C>T	c.(2158-2160)ttC>ttT	p.F720F	BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron	NM_001199.3	NP_001190.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGCTCAAATTCCGAGTGCAGA	0.617000													112	231					0	0	0.014410	0	0
NLGN1	22871	broad.mit.edu	37	3	173999060	173999060	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:173999060C>T	ENST00000457714.1	+	7	2868	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	NLGN1_ENST00000361589.4_Silent_p.P813P|NLGN1_ENST00000545397.1_Silent_p.P813P|NLGN1_ENST00000401917.3_Silent_p.P853P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	830					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCCCCATCCCCACCCCCATT	0.428000													7	14					0	0	0.004482	0	0
CNGA4	1262	broad.mit.edu	37	11	6265277	6265277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6265277G>A	ENST00000379936.2	+	6	1481	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	456					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTGAGCGAGTATCCACA	0.537000													44	76					0	0	0.010771	0	0
ABCA13	154664	broad.mit.edu	37	7	48451959	48451959	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:48451959C>T	ENST00000435803.1	+	41	12262	c.12238C>T	c.(12238-12240)Ctg>Ttg	p.L4080L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4080					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCTTCTGTTCTGGAGGCCCA	0.363000													3	22					0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82545065	82545065	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:82545065G>A	ENST00000423517.2	-	7	12574	c.12237C>T	c.(12235-12237)ctC>ctT	p.L4079L	PCLO_ENST00000333891.8_Silent_p.L4079L|PCLO_ENST00000437081.1_Silent_p.L799L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4010					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTTCGAAGGAGACGGTCTG	0.463000													5	14					0	0	0.000602	0	0
CASP10	843	broad.mit.edu	37	2	202093788	202093788	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202093788G>A	ENST00000272879.5	+	10	1732	c.1548G>A	c.(1546-1548)agG>agA	p.R516R	CASP10_ENST00000448480.1_Silent_p.R473R	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	516					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CCATGCGCAGGTGGAGCAGCG	0.587000													55	163					0	0	0.014410	0	0
ACOX2	8309	broad.mit.edu	37	3	58519830	58519830	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58519830G>A	ENST00000302819.5	-	4	657	c.366C>T	c.(364-366)ttC>ttT	p.F122F	ACOX2_ENST00000459701.2_Silent_p.F122F	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	122					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGGCTCTCACGAAGACTCTGT	0.527000													109	151					0	0	0.014410	0	0
CDH8	1006	broad.mit.edu	37	16	61851630	61851630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:61851630C>T	ENST00000577390.1	-	7	1984	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	CDH8_ENST00000299345.6_Missense_Mutation_p.D344N|CDH8_ENST00000577730.1_Missense_Mutation_p.D344N|CDH8_ENST00000584337.1_Missense_Mutation_p.D344N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	344	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCTCAAAGTCCAGAGGCTGT	0.438000													13	25					0	0	0.001855	0	0
MYH4	4622	broad.mit.edu	37	17	10366423	10366423	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10366423C>T	ENST00000255381.2	-	10	998	c.888G>A	c.(886-888)aaG>aaA	p.K296K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	296	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCTGGTTTCTTATTGGACA	0.383000													23	43					0	0	0.003954	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918844	21918844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21918844G>A	ENST00000240662.2	-	3	1433	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	363						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AATAAGGATGGAAGGTTTCTC	0.453000													39	121					0	0	0.006230	0	0
IL16	3603	broad.mit.edu	37	15	81593826	81593826	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:81593826G>A	ENST00000394660.2	+	15	3651	c.3291G>A	c.(3289-3291)gtG>gtA	p.V1097V	IL16_ENST00000394652.2_Silent_p.V396V|IL16_ENST00000302987.4_Silent_p.V1097V	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1097	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCGAGGAGGTGAAGGTTCTGG	0.473000													37	92					0	0	0.005524	0	0
EPHA4	2043	broad.mit.edu	37	2	222428866	222428866	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:222428866G>A	ENST00000281821.2	-	3	449	c.408C>T	c.(406-408)ttC>ttT	p.F136F	EPHA4_ENST00000392071.4_Silent_p.F85F|EPHA4_ENST00000409938.1_Silent_p.F136F|EPHA4_ENST00000409854.1_Silent_p.F136F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	136						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCTCTCTGATGAAACGCTCTT	0.468000													67	149					0	0	0.014410	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005001	101005001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101005001C>T	ENST00000556751.1	-	5	4299	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	BEGAIN_ENST00000355173.2_Missense_Mutation_p.E363K|BEGAIN_ENST00000443071.2_Missense_Mutation_p.E363K			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	363						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGGGCCACTTCGGCCTCCAGC	0.726000													3	5					0	0	0.004672	0	0
SRCIN1	80725	broad.mit.edu	37	17	36717946	36717946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:36717946G>A	ENST00000264659.7	-	7	1677	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P519S|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	357					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGACCTCCGGGGGGTGCTGCC	0.756000													3	6					0	0	0.004672	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076666	57076666	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:57076666G>A	ENST00000532437.1	-	5	3830	c.3519C>T	c.(3517-3519)tcC>tcT	p.S1173S	TNKS1BP1_ENST00000358252.3_Silent_p.S1173S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1173	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCACACAGCTGGACACTTCCA	0.607000													56	66					0	0	0.014410	0	0
TAP1	6890	broad.mit.edu	37	6	32815348	32815348	+	Silent	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32815348A>T	ENST00000354258.4	-	9	2186	c.2025T>A	c.(2023-2025)gcT>gcA	p.A675A	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.A414A	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	675	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						ACTTTACTGCAGCAGCTGTGA	0.498000													50	134					0	0	0.014410	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360430	71360430	+	Silent	SNP	C	C	T	rs148255112		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:71360430C>T	ENST00000244230.2	+	2	844	c.492C>T	c.(490-492)ccC>ccT	p.P164P	MPHOSPH10_ENST00000498451.2_Silent_p.P164P	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	164					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGAAAAGCCCCGTTTTCAGTG	0.433000													61	165					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13793828	13793828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13793828C>T	ENST00000265104.4	-	49	8124	c.8020G>A	c.(8020-8022)Gag>Aag	p.E2674K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2674	AAA 3 (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)					CGCACTATCTCATTCGTAACC	0.423000									Kartagener syndrome				20	53					0	0	0.007413	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589169	140589169	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140589169G>A	ENST00000239450.2	+	1	879	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		230	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTCAGGGTGGTGGTTGTAG	0.532000													76	104					0	0	0.014410	0	0
PIK3CB	5291	broad.mit.edu	37	3	138453617	138453617	+	Silent	SNP	G	G	A	rs146908661	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138453617G>A	ENST00000477593.1	-	6	904	c.831C>T	c.(829-831)gcC>gcT	p.A277A	PIK3CB_ENST00000289153.2_Silent_p.A277A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	277	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATGGGGCAGGGCTCTGTTCA	0.383000													53	236					0	0	0.014410	0	0
UTRN	7402	broad.mit.edu	37	6	144769802	144769802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:144769802C>T	ENST00000367545.3	+	16	1969	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	657	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R657C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGACTGTTCGTGTAAGAGA	0.423000													38	61					0	0	0.005524	0	0
ERC2	26059	broad.mit.edu	37	3	56044613	56044613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:56044613C>T	ENST00000288221.6	-	9	2039	c.1784G>A	c.(1783-1785)aGa>aAa	p.R595K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	595						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTCAATTATTCTCTCCTGTAA	0.383000													27	74					0	0	0.008361	0	0
C12orf77	196415	broad.mit.edu	37	12	25148891	25148891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:25148891G>A	ENST00000549828.1	-	3	461	c.257C>T	c.(256-258)cCc>cTc	p.P86L	C12orf77_ENST00000434912.3_Missense_Mutation_p.P31L|C12orf77_ENST00000549262.1_Missense_Mutation_p.P31L	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	86										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GTGGCATTCGGGGGCAGGTAC	0.517000													18	37					0	0	0.007413	0	0
DIXDC1	85458	broad.mit.edu	37	11	111844759	111844759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:111844759G>A	ENST00000440460.2	+	4	626	c.329G>A	c.(328-330)gGa>gAa	p.G110E	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.G110E|DIXDC1_ENST00000529225.1_Missense_Mutation_p.G109E	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	110	CH.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ATTGTGGATGGAAACCTGAAG	0.483000													21	43					0	0	0.002780	0	0
KCNQ3	3786	broad.mit.edu	37	8	133187826	133187826	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:133187826G>A	ENST00000388996.4	-	5	1227	c.807C>T	c.(805-807)ttC>ttT	p.F269F	KCNQ3_ENST00000521134.1_Silent_p.F149F|KCNQ3_ENST00000519445.1_Silent_p.F269F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	269					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAGTGTCAGGAAACCGATGT	0.493000													14	25					0	0	0.002450	0	0
CD163L1	283316	broad.mit.edu	37	12	7528404	7528404	+	Missense_Mutation	SNP	C	C	T	rs150856487	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7528404C>T	ENST00000313599.3	-	10	2635	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	CD163L1_ENST00000396630.1_Missense_Mutation_p.E860K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E870K|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	860	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGGAACTTTTCGGCCCAAGTT	0.458000													31	128					0	0	0.009535	0	0
SCN4A	6329	broad.mit.edu	37	17	62025267	62025267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:62025267C>T	ENST00000435607.1	-	17	3377	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D1101N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1101					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGAGGAAGTCGAGCCAGCAC	0.587000													17	63					0	0	0.007413	0	0
TRIP12	9320	broad.mit.edu	37	2	230660029	230660029	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:230660029G>A	ENST00000283943.5	-	25	3787	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	TRIP12_ENST00000389045.3_Silent_p.P933P|TRIP12_ENST00000389044.4_Silent_p.P1251P	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1203					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTCTTCCAATGGGCTCTTCTC	0.393000													23	52					0	0	0.003954	0	0
SULF1	23213	broad.mit.edu	37	8	70517105	70517105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:70517105G>A	ENST00000260128.4	+	13	2032	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.E439K|SULF1_ENST00000402687.4_Missense_Mutation_p.E439K|SULF1_ENST00000419716.3_Missense_Mutation_p.E439K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	439					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCCCAAATATGAACGGGTCAA	0.473000													14	93					0	0	0.004007	0	0
GUSB	2990	broad.mit.edu	37	7	65444845	65444845	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:65444845C>T	ENST00000304895.4	-	3	580	c.450G>A	c.(448-450)gaG>gaA	p.E150E	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.E150E|GUSB_ENST00000421103.1_Silent_p.E150E	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	150			E -> K (in MPS7).		glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGATGTCGGCCTCGAAGGGGA	0.642000													25	23					0	0	0.003330	0	0
SETX	23064	broad.mit.edu	37	9	135201741	135201741	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:135201741G>A	ENST00000372169.2	-	10	5426	c.5244C>T	c.(5242-5244)ttC>ttT	p.F1748F	SETX_ENST00000224140.5_Silent_p.F1748F|SETX_ENST00000393220.1_Silent_p.F1748F			Q7Z333	SETX_HUMAN	senataxin	1748					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.L1750fs*8(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCATCAAAGGGAAAAAAACAT	0.378000													18	33					0	0	0.007413	0	0
STON1	11037	broad.mit.edu	37	2	48818851	48818851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:48818851C>T	ENST00000309835.3	+	2	2000	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P664S|STON1_ENST00000406226.1_Missense_Mutation_p.P664S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P664S|STON1_ENST00000404752.1_Missense_Mutation_p.P664S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P664S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P664S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P664S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAGAAATTCCCTCTGATTG	0.438000													45	120					0	0	0.014410	0	0
SLC2A12	154091	broad.mit.edu	37	6	134327999	134327999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:134327999C>T	ENST00000275230.5	-	3	1673	c.1518G>A	c.(1516-1518)atG>atA	p.M506I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	506						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGCCCCAGTTCATGCTAGAAG	0.488000													13	21					0	0	0.001855	0	0
SOGA1	140710	broad.mit.edu	37	20	35431485	35431485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:35431485G>A	ENST00000237536.4	-	11	3454	c.3113C>T	c.(3112-3114)gCc>gTc	p.A1038V	SOGA1_ENST00000279034.5_Missense_Mutation_p.A800V|SOGA1_ENST00000456801.2_Missense_Mutation_p.A641V|SOGA1_ENST00000357779.3_Missense_Mutation_p.A800V	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	800										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCGCTCCCCGGCCCCCTTCCC	0.642000													12	23					0	0	0.001855	0	0
NYAP1	222950	broad.mit.edu	37	7	100086498	100086498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100086498C>T	ENST00000423930.1	+	4	1313	c.1154C>T	c.(1153-1155)cCa>cTa	p.P385L	NYAP1_ENST00000300179.2_Missense_Mutation_p.P385L|NYAP1_ENST00000454988.1_Missense_Mutation_p.P328L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	385	Pro-rich.																ACGCCTCCCCCACCGCCTCCA	0.711000													27	62					0	0	0.008361	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800251	32800251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:32800251G>A	ENST00000329421.7	-	2	880	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	179						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCCCCGAGGGAGTGGATGGC	0.632000													30	144					0	0	0.008361	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906647	56906647	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:56906647C>T	ENST00000438926.2	+	8	1073	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	SLC12A3_ENST00000566786.1_Silent_p.F347F|SLC12A3_ENST00000563236.1_Silent_p.F348F|SLC12A3_ENST00000262502.5_Silent_p.F347F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	348					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCATCTTCTTCCCCTCGGCCA	0.567000													18	107					0	0	0.004990	0	0
OR4K2	390431	broad.mit.edu	37	14	20344521	20344521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20344521C>T	ENST00000298642.2	+	1	131	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGGTGTTTTCATTGCTTTAT	0.413000													66	347					0	0	0.014410	0	0
THOC2	57187	broad.mit.edu	37	X	122758411	122758411	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:122758411T>G	ENST00000245838.8	-	26	3198	c.3167A>C	c.(3166-3168)gAt>gCt	p.D1056A	THOC2_ENST00000491737.1_Missense_Mutation_p.D941A|THOC2_ENST00000355725.4_Missense_Mutation_p.D1056A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1056					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGTGGCTCTATCACTATGCCA	0.358000													69	76					0	0	0.014410	0	0
TRIM60	166655	broad.mit.edu	37	4	165961516	165961516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:165961516G>A	ENST00000512596.1	+	3	508	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	TRIM60_ENST00000341062.5_Missense_Mutation_p.E98K|TRIM60_ENST00000508504.1_Missense_Mutation_p.E98K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	98						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TGCCATGTGTGAAAAACACAA	0.428000													36	75					0	0	0.003755	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560103	36560103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:36560103C>T	ENST00000373461.4	+	2	435	c.188C>T	c.(187-189)tCc>tTc	p.S63F	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.S63F	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	63	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				ATGGCCTGCTCCTTCCGCGGC	0.642000													101	220					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13931251	13931251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13931251C>T	ENST00000265104.4	-	2	264	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	54	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E54K(2)		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)					TCCTCCACTTCGGTTTTGTTC	0.488000									Kartagener syndrome				30	79					0	0	0.008361	0	0
OR1L1	26737	broad.mit.edu	37	9	125424585	125424585	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125424585C>T	ENST00000373686.1	+	1	741	c.741C>T	c.(739-741)atC>atT	p.I247I				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCAAAGAAATCACAGTAATGA	0.403000													82	220					0	0	0.014410	0	0
CASP8	841	broad.mit.edu	37	2	202149718	202149718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202149718G>A	ENST00000358485.4	+	8	1355	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	CASP8_ENST00000323492.7_Missense_Mutation_p.G313R|CASP8_ENST00000432109.2_Missense_Mutation_p.G328R|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.G244R|CASP8_ENST00000264275.5_Missense_Mutation_p.G345R	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	328					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGGCACTGATGGACAGGAGGC	0.468000										HNSCC(4;0.00038)			93	227					0	0	0.014410	0	0
DET1	55070	broad.mit.edu	37	15	89056206	89056206	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:89056206G>A	ENST00000564406.1	-	6	1822	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	DET1_ENST00000444300.1_Silent_p.F554F|DET1_ENST00000268148.8_Silent_p.F543F	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	543						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTCGCATATGGAAGTTGACAA	0.483000													32	91					0	0	0.013726	0	0
OR8K3	219473	broad.mit.edu	37	11	56086049	56086049	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56086049G>A	ENST00000312711.1	+	1	267	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	89					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)					TTGTGGATAAGAATATAATTT	0.353000													26	38					0	0	0.003954	0	0
DNAH5	1767	broad.mit.edu	37	5	13727711	13727711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13727711C>T	ENST00000265104.4	-	70	12042	c.11938G>A	c.(11938-11940)Gag>Aag	p.E3980K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3980					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3980K(1)		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)					AGAGGTTCCTCCTCCGGGTTT	0.418000									Kartagener syndrome				16	62					0	0	0.003163	0	0
SYT1	6857	broad.mit.edu	37	12	79679694	79679694	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:79679694G>A	ENST00000261205.4	+	5	951	c.294G>A	c.(292-294)ggG>ggA	p.G98G	SYT1_ENST00000552744.1_Silent_p.G98G|SYT1_ENST00000393240.3_Silent_p.G98G|SYT1_ENST00000457153.2_Silent_p.G98G	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	98					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.G98G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAAAAGGAGGGAAGAATGCCA	0.338000													15	44					0	0	0.004007	0	0
ALX3	257	broad.mit.edu	37	1	110607308	110607308	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110607308C>T	ENST00000369792.4	-	2	582	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	165						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGCTCCTCCAGCTGGAATG	0.582000													43	191					0	0	0.013114	0	0
DOT1L	84444	broad.mit.edu	37	19	2226942	2226942	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:2226942C>T	ENST00000398665.3	+	27	4458	c.4422C>T	c.(4420-4422)ttC>ttT	p.F1474F		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1474						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GACCGCAGTTCGCGCTCGGCC	0.776000													22	49					0	0	0.004656	0	0
CLEC4E	26253	broad.mit.edu	37	12	8688801	8688801	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:8688801C>T	ENST00000299663.3	-	5	538	c.372_splice	c.e5-1	p.E125_splice	CLEC4E_ENST00000545274.1_Splice_Site_p.E80_splice|CLEC4E_ENST00000446457.2_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	125	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAAGGAATTCCTATGGAAGA	0.373000													27	57					0	0	0.003954	0	0
MDC1	9656	broad.mit.edu	37	6	30676091	30676091	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30676091G>A	ENST00000376406.3	-	8	2912	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	755				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCTCAGACAGAATGGCTGTG	0.557000								Other conserved DNA damage response genes					24	74					0	0	0.003330	0	0
PLCB1	23236	broad.mit.edu	37	20	8714011	8714011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8714011G>A	ENST00000378641.3	+	19	2490	c.2015G>A	c.(2014-2016)gGg>gAg	p.G672E	PLCB1_ENST00000378637.2_Missense_Mutation_p.G672E|PLCB1_ENST00000338037.6_Missense_Mutation_p.G672E|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	672	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCGTAGATGGGATAGTGGCA	0.403000													35	85					0	0	0.006230	0	0
GABRA2	2555	broad.mit.edu	37	4	46252529	46252529	+	Silent	SNP	G	G	A	rs143219761		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:46252529G>A	ENST00000510861.1	-	10	1325	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	GABRA2_ENST00000507069.1_Silent_p.L444L|GABRA2_ENST00000540012.1_Silent_p.L389L|GABRA2_ENST00000381620.4_Silent_p.L384L|GABRA2_ENST00000356504.1_Silent_p.L384L|GABRA2_ENST00000514090.1_Silent_p.L384L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	384					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGATGGTGGAGAGAACTGGAT	0.423000													28	60					0	0	0.007291	0	0
ZNF251	90987	broad.mit.edu	37	8	145948395	145948395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145948395G>A	ENST00000292562.7	-	5	925	c.650C>T	c.(649-651)aCc>aTc	p.T217I	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ATATTTGAAGGTTTTGCTGCA	0.418000													39	100					0	0	0.005524	0	0
NLRP1	22861	broad.mit.edu	37	17	5434015	5434015	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:5434015G>A	ENST00000345221.3	-	12	3860	c.3306C>T	c.(3304-3306)ttC>ttT	p.F1102F	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.F1072F|NLRP1_ENST00000572272.1_Silent_p.F1102F|NLRP1_ENST00000354411.3_Silent_p.F1072F|NLRP1_ENST00000269280.4_Silent_p.F1102F|NLRP1_ENST00000262467.5_Silent_p.F1106F	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1102					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAGCTACAGGGAAGTGAACTC	0.567000													23	43					0	0	0.002780	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032411	142032411	+	RNA	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142032411G>T	ENST00000547918.2	+	0	264																											CAGACAAATCGGGGCTTCCCC	0.537000													12	24					7.03913e-09	7.16031e-09	0.013537	1	0
TXNDC8	255220	broad.mit.edu	37	9	113066797	113066797	+	Silent	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113066797T>G	ENST00000374510.4	-	5	282	c.271A>C	c.(271-273)Aga>Cga	p.R91R	TXNDC8_ENST00000374511.3_Silent_p.R91R|TXNDC8_ENST00000423740.2_Silent_p.R71R	NM_001003936.2	NP_001003936.1	Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	91	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTTTTGATTCTTGAGAATAGG	0.383000													32	91					0	0	0.003755	0	0
SCN5A	6331	broad.mit.edu	37	3	38639247	38639247	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38639247G>A	ENST00000413689.1	-	14	2428	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	SCN5A_ENST00000414099.2_Silent_p.F745F|SCN5A_ENST00000451551.2_Silent_p.F745F|SCN5A_ENST00000450102.2_Silent_p.F745F|SCN5A_ENST00000449557.2_Silent_p.F745F|SCN5A_ENST00000455624.2_Silent_p.F745F|SCN5A_ENST00000443581.1_Silent_p.F745F|SCN5A_ENST00000425664.1_Silent_p.F745F|SCN5A_ENST00000423572.2_Silent_p.F745F|SCN5A_ENST00000333535.4_Silent_p.F745F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	745					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCATCTCCTCGAATTCACTTG	0.562000													68	82					0	0	0.014410	0	0
COL5A3	50509	broad.mit.edu	37	19	10087955	10087955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10087955C>T	ENST00000264828.3	-	44	3323	c.3238G>A	c.(3238-3240)Gat>Aat	p.D1080N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1080	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCACCCACATCCCCCTGCAGA	0.612000													45	117					0	0	0.010771	0	0
SOS1	6654	broad.mit.edu	37	2	39249723	39249723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:39249723G>A	ENST00000426016.1	-	11	1932	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	SOS1_ENST00000402219.2_Missense_Mutation_p.H616Y|SOS1_ENST00000395038.2_Missense_Mutation_p.H616Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	616	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GCGTACATATGGTACGTAAGC	0.368000									Noonan syndrome				17	26					0	0	0.006122	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018572	161018572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161018572C>T	ENST00000368013.3	-	12	2559	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E570K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	747	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATTTCTTTTTCCTTCTCATCT	0.488000													149	500					0	0	0.014410	0	0
CDC20B	166979	broad.mit.edu	37	5	54420789	54420789	+	Missense_Mutation	SNP	G	G	A	rs145386958	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:54420789G>A	ENST00000296733.1	-	9	1231	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	CDC20B_ENST00000381375.2_Missense_Mutation_p.R353C|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.R353C	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	353										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGCTTGTGGCGAAGTGTTCCA	0.522000													49	64					0	0	0.014410	0	0
CXorf22	170063	broad.mit.edu	37	X	35974178	35974178	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:35974178C>T	ENST00000297866.5	+	8	1341	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	425										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACCTTGTTTCATGGGTGAAC	0.363000													35	55					0	0	0.003755	0	0
PENK	5179	broad.mit.edu	37	8	57353899	57353899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:57353899C>T	ENST00000314922.3	-	2	812	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	PENK_ENST00000451791.2_Missense_Mutation_p.E246K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	246					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTTTCGCCTTCTTCGTCGGAG	0.493000													93	147					0	0	0.014410	0	0
MAP1A	4130	broad.mit.edu	37	15	43820746	43820746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43820746G>A	ENST00000382031.1	+	5	7820	c.7789G>A	c.(7789-7791)Gcc>Acc	p.A2597T	MAP1A_ENST00000399453.1_Missense_Mutation_p.A2359T|MAP1A_ENST00000300231.5_Missense_Mutation_p.A2359T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2359						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGATTGTGCAGCCAATGGCCC	0.632000													25	85					0	0	0.004656	0	0
DPRX	503834	broad.mit.edu	37	19	54137908	54137908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54137908C>T	ENST00000376650.1	+	2	203	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GAAATGGCCTCGAAAATAGAC	0.433000													55	66					0	0	0.014410	0	0
HGF	3082	broad.mit.edu	37	7	81381563	81381563	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:81381563G>A	ENST00000457544.2	-	5	559	c.482_splice	c.e5-1	p.S161_splice	HGF_ENST00000453411.1_Splice_Site_p.S161_splice|HGF_ENST00000423064.2_Silent_p.S166S|HGF_ENST00000222390.5_Silent_p.S166S|HGF_ENST00000444829.2_Silent_p.S166S	NM_001010932.1	NP_001010932.1	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	161	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACCCCGATAGCTCGAAGGCA	0.398000													16	59					0	0	0.012319	0	0
HECTD4	283450	broad.mit.edu	37	12	112648045	112648045	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:112648045G>A	ENST00000550722.1	-	50	7598	c.7203C>T	c.(7201-7203)acC>acT	p.T2401T	HECTD4_ENST00000430131.2_Silent_p.T2125T|HECTD4_ENST00000377560.5_Silent_p.T2375T	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGTTAGCTCGGGTTTTGGTGT	0.517000													55	150					0	0	0.014410	0	0
SLC9C2	284525	broad.mit.edu	37	1	173542434	173542434	+	Silent	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:173542434T>C	ENST00000367714.3	-	9	1355	c.933A>G	c.(931-933)gaA>gaG	p.E311E	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.E209E|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	311					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATATTAAATGTTCATATACAG	0.269000													25	33					0	0	0.005443	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148887969	148887969	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:148887969C>T	ENST00000336498.3	+	18	1934	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	ARHGAP10_ENST00000414545.2_Silent_p.I214I	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	565	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGTGGAAATCTTAATTGAAA	0.393000													15	47					0	0	0.003163	0	0
ZMYM3	9203	broad.mit.edu	37	X	70466338	70466338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:70466338G>A	ENST00000373998.1	-	15	3098	c.2401C>T	c.(2401-2403)Ccc>Tcc	p.P801S	ZMYM3_ENST00000373988.1_Missense_Mutation_p.P815S|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P813S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P815S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P813S	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	813					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGAGCAGTGGGAGCTGATCGG	0.587000													3	5					0	0	0.004672	0	0
ZNF404	342908	broad.mit.edu	37	19	44377825	44377825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:44377825G>A	ENST00000587539.1	-	3	540	c.541C>T	c.(541-543)Cac>Tac	p.H181Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.H179Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAATCAGTGTGGATTTTTCGA	0.363000													20	30					0	0	0.008871	0	0
WDR52	55779	broad.mit.edu	37	3	113135415	113135415	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:113135415G>A	ENST00000393845.2	-	6	696	c.630C>T	c.(628-630)atC>atT	p.I210I	WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Silent_p.I210I	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	210										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATTCATAGATGATAATATCTG	0.318000													8	40					0	0	0.006214	0	0
MED12L	116931	broad.mit.edu	37	3	151085540	151085540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151085540C>T	ENST00000474524.1	+	22	3367	c.3329C>T	c.(3328-3330)tCt>tTt	p.S1110F	MED12L_ENST00000273432.4_Missense_Mutation_p.S970F|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1110					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCACTTCCCTCTCTTCTAGCA	0.453000													80	123					0	0	0.014410	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43670060	43670060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43670060C>T	ENST00000564079.1	+	5	640	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.P134S|TUBGCP4_ENST00000399460.3_5'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	134					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GCTTCTTTTTCCCTCTGTGAT	0.323000													44	147					0	0	0.014410	0	0
KLK5	25818	broad.mit.edu	37	19	51453277	51453277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51453277C>T	ENST00000336334.3	-	3	521	c.169G>A	c.(169-171)Gac>Aac	p.D57N	KLK5_ENST00000593428.1_Missense_Mutation_p.D57N|KLK5_ENST00000391809.2_Missense_Mutation_p.D57N	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	57					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GACCGGGCGTCTTCCCCGGCC	0.622000													10	36					0	0	0.008291	0	0
HEMGN	55363	broad.mit.edu	37	9	100693425	100693425	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:100693425C>T	ENST00000259456.3	-	4	395	c.252G>A	c.(250-252)ttG>ttA	p.L84L		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	84	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GCTCCACCTTCAATTCTGTGT	0.423000													47	131					0	0	0.014410	0	0
GRK1	6011	broad.mit.edu	37	13	114322087	114322087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:114322087G>A	ENST00000335678.6	+	1	618	c.386G>A	c.(385-387)gGg>gAg	p.G129E		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	129	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTGGATGAGGGGATAGTGGCG	0.632000													34	32					0	0	0.012213	0	0
C10orf120	399814	broad.mit.edu	37	10	124457714	124457714	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:124457714C>T	ENST00000329446.4	-	3	574	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	181										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AGGGTAAAGGCTGATGATTTC	0.502000													60	95					0	0	0.014410	0	0
OR52B6	340980	broad.mit.edu	37	11	5602888	5602888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5602888G>A	ENST00000345043.2	+	1	782	c.782G>A	c.(781-783)gGa>gAa	p.G261E	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTACCTGTGGATCCCATATC	0.488000													53	273					0	0	0.014410	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923775	2923775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:2923775C>T	ENST00000254695.8	+	19	1727	c.1637C>T	c.(1636-1638)cCa>cTa	p.P546L	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P546L|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P527L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P531L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	546					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACAGCCTCCAGTGGTGGCG	0.612000													18	19					0	0	0.007413	0	0
LAMA5	3911	broad.mit.edu	37	20	60909353	60909353	+	Silent	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:60909353C>A	ENST00000252999.3	-	22	2694	c.2628G>T	c.(2626-2628)ctG>ctT	p.L876L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	876	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCCAGCTCCAGGCGCAGGT	0.662000													6	24					8.12818e-05	8.24609e-05	0.001984	1	0
PAK1	5058	broad.mit.edu	37	11	77085397	77085397	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:77085397C>T	ENST00000356341.3	-	5	984	c.453G>A	c.(451-453)gaG>gaA	p.E151E	PAK1_ENST00000278568.4_Silent_p.E151E|PAK1_ENST00000528203.1_Silent_p.E53E|PAK1_ENST00000530617.1_Silent_p.E151E	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	151	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AATTGTAATCCTCAGCTGACT	0.398000													19	29					0	0	0.003330	0	0
CUX2	23316	broad.mit.edu	37	12	111757990	111757990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:111757990C>T	ENST00000261726.6	+	17	2331	c.2177C>T	c.(2176-2178)tCg>tTg	p.S726L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	726						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGCCCCCCTCGCCCCCGGAG	0.741000													3	7					0	0	0.004672	0	0
OR2T10	127069	broad.mit.edu	37	1	248756719	248756719	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248756719G>A	ENST00000330500.2	-	1	381	c.351C>T	c.(349-351)gcC>gcT	p.A117A		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			CATAGGCCATGGCGGCTAGAA	0.562000													71	95					0	0	0.014410	0	0
OR2B3	442184	broad.mit.edu	37	6	29054567	29054567	+	Silent	SNP	G	G	A	rs139179669		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29054567G>A	ENST00000377173.2	-	1	523	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.F153F(2)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTGAGTTGCCGAAACCAATGA	0.488000													22	48					0	0	0.014323	0	0
MUC17	140453	broad.mit.edu	37	7	100685120	100685120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100685120G>A	ENST00000306151.4	+	3	10487	c.10423G>A	c.(10423-10425)Gct>Act	p.A3475T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3475	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTGAGGCTAGCACCCT	0.498000													226	474					0	0	0.014410	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555767	45555767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:45555767G>A	ENST00000588982.1	-	4	2225	c.1724C>T	c.(1723-1725)gCc>gTc	p.A575V	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.A575V|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.A575V|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.A575V|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.A575V			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	575						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGCGCGAAGGCCAGGAGGCC	0.736000													3	7					0	0	0.004672	0	0
PLCXD2	257068	broad.mit.edu	37	3	111564709	111564709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:111564709G>A	ENST00000393934.3	+	4	1478	c.908G>A	c.(907-909)aGa>aAa	p.R303K	PLCXD2_ENST00000477665.1_3'UTR|PHLDB2_ENST00000393923.3_5'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	0					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TTCAGCAGAAGATCCTGATGG	0.458000													33	126					0	0	0.004289	0	0
UNC79	57578	broad.mit.edu	37	14	93962762	93962762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:93962762C>T	ENST00000553484.1	+	6	872	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	UNC79_ENST00000555664.1_Missense_Mutation_p.H240Y|UNC79_ENST00000393151.2_Missense_Mutation_p.H240Y|UNC79_ENST00000256339.4_Missense_Mutation_p.H63Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	240						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TACAGTGTATCATTGTCAATT	0.274000													25	62					0	0	0.010818	0	0
MON2	23041	broad.mit.edu	37	12	62929435	62929435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:62929435C>T	ENST00000393630.3	+	14	2237	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	MON2_ENST00000546600.1_Missense_Mutation_p.H616Y|MON2_ENST00000280379.6_Missense_Mutation_p.H616Y|MON2_ENST00000393629.2_Missense_Mutation_p.H616Y|MON2_ENST00000552738.1_Intron|MON2_ENST00000552115.1_Missense_Mutation_p.H616Y|MON2_ENST00000393632.2_Missense_Mutation_p.H616Y	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	616					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.H616N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTGCCTCCCCATTATGCTCT	0.418000													31	123					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179416538	179416538	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179416538C>T	ENST00000589042.1	-	335	91313	c.91089G>A	c.(91087-91089)aaG>aaA	p.K30363K	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.K28722K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.K21298K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.K21423K|TTN_ENST00000342992.6_Silent_p.K27795K|TTN_ENST00000342175.6_Silent_p.K21490K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28722	Fibronectin type-III 121.						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)			TTCTTTCTTTCTTTTCAACAT	0.398000													28	120					0	0	0.009535	0	0
OR10S1	219873	broad.mit.edu	37	11	123847420	123847420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:123847420C>T	ENST00000531945.1	-	1	1068	c.979G>A	c.(979-981)Ggc>Agc	p.G327S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGTGGGCTGCCTGCTGTAGAC	0.463000													23	48					0	0	0.014323	0	0
PBXIP1	57326	broad.mit.edu	37	1	154923760	154923760	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:154923760C>T	ENST00000368463.3	-	5	428	c.357G>A	c.(355-357)caG>caA	p.Q119Q	PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Silent_p.Q90Q|PBXIP1_ENST00000368460.3_Silent_p.Q119Q|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000498553.1_5'UTR	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	119					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTCCAGGTCCTGTGTGTCTG	0.592000													35	75					0	0	0.005524	0	0
LRRC66	339977	broad.mit.edu	37	4	52862276	52862276	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:52862276G>A	ENST00000343457.3	-	4	918	c.912C>T	c.(910-912)cgC>cgT	p.R304R		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	304						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGGGAGGAAGGCGGGTTTCCC	0.527000													32	60					0	0	0.004878	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189510	50189510	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:50189510G>A	ENST00000335999.6	-	8	2334	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	707										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCTGTGGATGGAGGGCACCA	0.632000													4	22					0	0	0.009096	0	0
PHF1	5252	broad.mit.edu	37	6	33383033	33383033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33383033C>T	ENST00000374516.3	+	13	1532	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	PHF1_ENST00000374512.3_Intron	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	421					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCCACCATCCCCCAGCCCTAA	0.622000													119	266					0	0	0.014410	0	0
OR5T2	219464	broad.mit.edu	37	11	55999685	55999685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55999685G>A	ENST00000313264.4	-	1	1052	c.977C>T	c.(976-978)cCc>cTc	p.P326L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	326					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTAGATGACGGGATTCAGCAA	0.343000													44	62					0	0	0.014410	0	0
LDB2	9079	broad.mit.edu	37	4	16597450	16597450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:16597450C>T	ENST00000502640.1	-	3	432	c.284G>A	c.(283-285)gGa>gAa	p.G95E	LDB2_ENST00000304523.5_Missense_Mutation_p.G95E|LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000441778.2_Missense_Mutation_p.G95E|LDB2_ENST00000515064.1_Missense_Mutation_p.G95E|LDB2_ENST00000503829.1_5'UTR			O43679	LDB2_HUMAN	LIM domain binding 2	95							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGTCACCCCTCCTTCAAACAC	0.493000													5	22					0	0	0.001168	0	0
GHSR	2693	broad.mit.edu	37	3	172165763	172165763	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:172165763G>T	ENST00000241256.2	-	1	483	c.441C>A	c.(439-441)ttC>ttA	p.F147L	GHSR_ENST00000427970.1_Missense_Mutation_p.F147L	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	147					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCCGGAGTGGGAAGCAGATGG	0.622000													23	61					4.26978e-12	4.35362e-12	0.003330	1	0
FASTKD1	79675	broad.mit.edu	37	2	170411657	170411657	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:170411657C>T	ENST00000453153.2	-	7	1537	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	FASTKD1_ENST00000453929.2_Silent_p.A397A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	397					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTCTAAGTTTCGCAAAAAACT	0.303000													26	70					0	0	0.003954	0	0
HTR3D	200909	broad.mit.edu	37	3	183755932	183755932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:183755932C>T	ENST00000382489.3	+	6	784	c.784C>T	c.(784-786)Cca>Tca	p.P262S	HTR3D_ENST00000428798.2_Missense_Mutation_p.P214S|HTR3D_ENST00000453435.1_Missense_Mutation_p.P43S|HTR3D_ENST00000334128.2_Missense_Mutation_p.P89S	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	262						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAATTGTGCCCCATTCAAGAT	0.522000													47	89					0	0	0.014410	0	0
CT47B1	643311	broad.mit.edu	37	X	120008991	120008991	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:120008991C>T	ENST00000371311.3	-	1	788	c.534G>A	c.(532-534)ggG>ggA	p.G178G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	178										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGGCTGCAGCCCCTGCACCCA	0.706000													43	61					0	0	0.008740	0	0
NEB	4703	broad.mit.edu	37	2	152500622	152500622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:152500622G>A	ENST00000397345.3	-	57	7868	c.7666C>T	c.(7666-7668)Cgc>Tgc	p.R2556C	NEB_ENST00000172853.10_Missense_Mutation_p.R2556C|NEB_ENST00000427231.2_Missense_Mutation_p.R2556C|NEB_ENST00000604864.1_Missense_Mutation_p.R2556C|NEB_ENST00000603639.1_Missense_Mutation_p.R2556C|NEB_ENST00000409198.1_Missense_Mutation_p.R2556C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2556					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTGCTTGCGAAAGCCTTCC	0.448000													109	227					0	0	0.014410	0	0
MYO5C	55930	broad.mit.edu	37	15	52536728	52536728	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:52536728A>T	ENST00000261839.7	-	19	2376	c.2215T>A	c.(2215-2217)Ttc>Atc	p.F739I	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	739	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTCTGAAGAAAATTTTGGTT	0.358000													31	67					0	0	0.013726	0	0
RNF150	57484	broad.mit.edu	37	4	141847198	141847198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:141847198G>A	ENST00000306799.3	-	5	1447	c.794C>T	c.(793-795)cCc>cTc	p.P265L	RNF150_ENST00000379512.2_Missense_Mutation_p.P166L|RNF150_ENST00000420921.2_Missense_Mutation_p.P166L|RNF150_ENST00000507500.1_Missense_Mutation_p.P307L|RNF150_ENST00000515673.1_Missense_Mutation_p.P307L	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	307						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TAGAAGCCAGGGGTCAACACA	0.502000													21	56					0	0	0.014323	0	0
COPS7A	50813	broad.mit.edu	37	12	6840215	6840215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6840215C>T	ENST00000538410.1	+	7	827	c.686C>T	c.(685-687)tCg>tTg	p.S229L	COPS7A_ENST00000534877.1_3'UTR|COPS7A_ENST00000534947.1_3'UTR|COPS7A_ENST00000229251.3_3'UTR|COPS7A_ENST00000539735.1_3'UTR|COPS7A_ENST00000543155.1_3'UTR			Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	0					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AAAGGACTGTCGTTTCCTCCC	0.557000													33	55					0	0	0.004878	0	0
POU5F1B	5462	broad.mit.edu	37	8	128429045	128429045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:128429045C>T	ENST00000465342.2	+	2	2091	c.934C>T	c.(934-936)Cct>Tct	p.P312S	CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P312S			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AGTGTCCTTTCCTCCGGCCCC	0.587000													4	15					0	0	0.009096	0	0
PHF21B	112885	broad.mit.edu	37	22	45312200	45312200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:45312200C>T	ENST00000313237.5	-	4	674	c.524G>A	c.(523-525)aGc>aAc	p.S175N	PHF21B_ENST00000447824.3_Missense_Mutation_p.S163N|PHF21B_ENST00000404079.2_Missense_Mutation_p.S163N|PHF21B_ENST00000403565.1_Missense_Mutation_p.S13N|PHF21B_ENST00000396103.3_Missense_Mutation_p.S175N	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	175							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GACTTTGATGCTGTCACTGAC	0.657000													70	98					0	0	0.014410	0	0
GPHN	10243	broad.mit.edu	37	14	67647551	67647551	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:67647551T>A	ENST00000478722.1	+	23	3328	c.2207T>A	c.(2206-2208)aTg>aAg	p.M736K	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.M749K|GPHN_ENST00000305960.9_Missense_Mutation_p.M672K|GPHN_ENST00000315266.5_Missense_Mutation_p.M703K	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	703	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTGATGAGCATGCGCAGTGCC	0.478000			T	MLL	AL								10	27					0	0	0.008291	0	0
KCNQ1	3784	broad.mit.edu	37	11	2592627	2592627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:2592627C>T	ENST00000155840.5	+	4	785	c.677C>T	c.(676-678)gCc>gTc	p.A226V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A99V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	226					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GCCACGTCGGCCATCAGGTGC	0.677000													41	243					0	0	0.014410	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645725	51645725	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51645725C>T	ENST00000317643.6	+	1	168	c.99C>T	c.(97-99)tcC>tcT	p.S33S	SIGLEC7_ENST00000305628.7_Silent_p.S33S|SIGLEC7_ENST00000600577.1_Silent_p.S33S	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	33					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TGCAGAGTTCCGTGACCGTGC	0.582000													29	52					0	0	0.007291	0	0
TKTL2	84076	broad.mit.edu	37	4	164394139	164394139	+	Missense_Mutation	SNP	G	G	A	rs140696676		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:164394139G>A	ENST00000280605.3	-	1	908	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	250						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAATACCCCGACCTTTGAAG	0.438000													119	184					0	0	0.014410	0	0
RHOT2	89941	broad.mit.edu	37	16	720896	720896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:720896C>T	ENST00000315082.4	+	10	758	c.644C>T	c.(643-645)tCc>tTc	p.S215F	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	215	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AAGCAGAAATCCTGCTTTGGG	0.672000													9	31					0	0	0.004482	0	0
NPY2R	4887	broad.mit.edu	37	4	156135439	156135439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:156135439G>A	ENST00000329476.3	+	2	837	c.348G>A	c.(346-348)tgG>tgA	p.W116*	NPY2R_ENST00000506608.1_Nonsense_Mutation_p.W116*	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	116					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGGGGAGTGGAAAATGGGTC	0.507000													24	37					0	0	0.003954	0	0
DPYD	1806	broad.mit.edu	37	1	98165025	98165025	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:98165025C>G	ENST00000370192.3	-	6	662	c.562G>C	c.(562-564)Gca>Cca	p.A188P	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	188					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCAATCTTTGCAGAATAGGCT	0.423000													33	157					0	0	0.003271	0	0
SVEP1	79987	broad.mit.edu	37	9	113173478	113173478	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113173478G>A	ENST00000401783.2	-	37	6849	c.6513C>T	c.(6511-6513)agC>agT	p.S2171S	SVEP1_ENST00000297826.5_Silent_p.S97S|SVEP1_ENST00000374469.1_Silent_p.S2148S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2171	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTGTTGCAGCTGTAAGCCA	0.532000													41	111					0	0	0.014410	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564883	58564883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:58564883G>A	ENST00000282326.1	+	6	938	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	231					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTGCGGGCAGAAGGGACTGT	0.642000													35	61					0	0	0.013726	0	0
TNC	3371	broad.mit.edu	37	9	117853253	117853253	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117853253G>A	ENST00000350763.4	-	2	456	c.45C>T	c.(43-45)ttC>ttT	p.F15F	TNC_ENST00000341037.4_Silent_p.F15F|TNC_ENST00000537320.1_Silent_p.F15F|TNC_ENST00000345230.3_Silent_p.F15F|TNC_ENST00000346706.3_Silent_p.F15F|TNC_ENST00000535648.1_Silent_p.F15F|TNC_ENST00000542877.1_Silent_p.F15F|TNC_ENST00000423613.2_Silent_p.F15F|TNC_ENST00000340094.3_Silent_p.F15F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	15					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGAGGGCAAGGAAAGCAAGAA	0.597000													21	49					0	0	0.002780	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918790	21918790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21918790C>T	ENST00000240662.2	-	3	1487	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	381						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTGCGCTTCCTCAGAGAATT	0.458000													42	130					0	0	0.008740	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055945	58055945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:58055945C>T	ENST00000556826.1	-	3	812	c.576G>A	c.(574-576)atG>atA	p.M192I	SLC35F4_ENST00000554729.1_Missense_Mutation_p.M69I|SLC35F4_ENST00000339762.6_Missense_Mutation_p.M228I	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAATTTTTTCATTGGAGATT	0.333000													35	54					0	0	0.007835	0	0
LMCD1	29995	broad.mit.edu	37	3	8590280	8590280	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:8590280C>T	ENST00000157600.3	+	4	646	c.414C>T	c.(412-414)ccC>ccT	p.P138P	LMCD1_ENST00000535732.1_Silent_p.P138P|LMCD1_ENST00000454244.1_Silent_p.P65P|LMCD1_ENST00000397386.3_Silent_p.P26P|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	138	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGCTCATCCCCAAGGAGAAGC	0.567000													80	87					0	0	0.014410	0	0
OR8A1	390275	broad.mit.edu	37	11	124440633	124440633	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124440633C>T	ENST00000284287.3	+	1	741	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GATTCAACATCATAGTCACGA	0.478000													36	44					0	0	0.003271	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113181779	113181779	+	Missense_Mutation	SNP	G	G	A	rs141265299		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:113181779G>A	ENST00000261965.3	-	12	1541	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.P452L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	452					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTTAACTGTTGGATCTGATGC	0.378000													143	93					0	0	0.014410	0	0
MAOB	4129	broad.mit.edu	37	X	43628571	43628571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:43628571C>T	ENST00000378069.4	-	13	1477	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	MAOB_ENST00000538942.1_Missense_Mutation_p.G395E|MAOB_ENST00000536181.1_Missense_Mutation_p.E428K	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	444					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GCTGCTCTCTCCCCGGCCTCT	0.572000													16	21					0	0	0.006122	0	0
RYR3	6263	broad.mit.edu	37	15	34015064	34015064	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34015064C>T	ENST00000389232.4	+	44	6838	c.6768C>T	c.(6766-6768)ctC>ctT	p.L2256L	RYR3_ENST00000415757.3_Silent_p.L2256L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2256	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCCAGCGCTCGACCTCCCCT	0.562000													61	174					0	0	0.014410	0	0
INADL	10207	broad.mit.edu	37	1	62235066	62235066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62235066G>A	ENST00000371158.2	+	5	610	c.496G>A	c.(496-498)Gat>Aat	p.D166N	INADL_ENST00000316485.6_Missense_Mutation_p.D166N	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	166	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTCGTGAAGGATGTCCAGCC	0.403000													48	169					0	0	0.014410	0	0
GAK	2580	broad.mit.edu	37	4	853511	853511	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:853511C>T	ENST00000314167.4	-	24	3277		c.e24-1		GAK_ENST00000509566.1_Splice_Site|GAK_ENST00000511163.1_Splice_Site	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AAGAGGGGGCCTGGAGAAGGG	0.602000													20	110					0	0	0.014323	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347685	140347685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140347685G>A	ENST00000289269.5	+	1	1866	c.1334G>A	c.(1333-1335)gGa>gAa	p.G445E	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		445	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGATGGGGGAATACCGCAG	0.527000													72	134					0	0	0.014410	0	0
TRAV2	28691	broad.mit.edu	37	14	22181016	22181016	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22181016C>T	ENST00000390424.2	+	0	298																											CGCTGCTCATCCTCCAGGTGC	0.527000													44	107					0	0	0.009718	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075471	100075471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100075471G>A	ENST00000300181.2	-	2	945	c.191C>T	c.(190-192)cCa>cTa	p.P64L	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	64					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCCCAGGTGGTGGGGAGCC	0.716000													7	15					0	0	0.003080	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494574	123494574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:123494574C>T	ENST00000280562.5	-	5	671	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	PITPNM2_ENST00000546049.1_Missense_Mutation_p.E156K|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E156K|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E156K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	156					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGGTCCTCTTCTGTCTTATAC	0.552000													65	155					0	0	0.014410	0	0
SYNM	23336	broad.mit.edu	37	15	99670730	99670730	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:99670730C>A	ENST00000336292.6	+	5	2282	c.2162C>A	c.(2161-2163)gCc>gAc	p.A721D	SYNM_ENST00000328642.7_Missense_Mutation_p.A721D|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.A436D	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	722	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGCAAGTCAGCCGAGCAGATG	0.512000													23	48					3.8784e-16	3.96046e-16	0.012319	1	0
ABLIM1	3983	broad.mit.edu	37	10	116213220	116213220	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:116213220C>T	ENST00000369252.4	-	13	1585	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000392952.3_Intron|ABLIM1_ENST00000277895.5_Silent_p.R488R|ABLIM1_ENST00000533213.2_Silent_p.R428R	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	488					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GAGGGGAGTTCCGGCCGCTGG	0.488000													40	37					0	0	0.008740	0	0
FDX1L	112812	broad.mit.edu	37	19	10426415	10426415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10426415C>T	ENST00000541276.1	-	2	178	c.175G>A	c.(175-177)Gag>Aag	p.E59K	FDX1L_ENST00000393708.3_Missense_Mutation_p.E56K|FDX1L_ENST00000492239.1_5'UTR|CTD-2369P2.12_ENST00000586529.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.E56K|FDX1L_ENST00000494368.1_5'UTR			Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	56					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CCCGCGTCCTCCTCTCCAGCC	0.721000													3	7					0	0	0.004672	0	0
TMEM71	137835	broad.mit.edu	37	8	133764044	133764044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:133764044C>T	ENST00000356838.3	-	4	443	c.301G>A	c.(301-303)Gag>Aag	p.E101K	TMEM71_ENST00000523829.1_Missense_Mutation_p.E101K|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.E101K	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	101						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACTAAGTTCTCCTTATACATA	0.383000													42	87					0	0	0.014410	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783933	140783933	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140783933T>C	ENST00000573521.1	+	1	1414	c.1414T>C	c.(1414-1416)Ttc>Ctc	p.F472L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTCCATCTTCTCCGTGAT	0.478000													50	60					0	0	0.014410	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119785	38119785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38119785C>T	ENST00000406386.3	+	7	1477	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	408					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATCCTGTGCCCAGCGGGACAA	0.592000													93	145					0	0	0.014410	0	0
SNTG1	54212	broad.mit.edu	37	8	51705277	51705277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:51705277C>T	ENST00000522124.1	+	19	2103	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	SNTG1_ENST00000518864.1_Missense_Mutation_p.S481F|SNTG1_ENST00000276467.5_Missense_Mutation_p.S444F|SNTG1_ENST00000517473.1_Missense_Mutation_p.S444F	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	481					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCATTCATTCCTTCTTTGCT	0.388000													8	38					0	0	0.004482	0	0
OR4K5	79317	broad.mit.edu	37	14	20389381	20389381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20389381C>T	ENST00000315915.4	+	1	641	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTGGAATTCTTTCCCTAAG	0.408000													32	187					0	0	0.012213	0	0
CMYA5	202333	broad.mit.edu	37	5	79054675	79054675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:79054675C>T	ENST00000446378.2	+	7	11241	c.11210C>T	c.(11209-11211)tCa>tTa	p.S3737L	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3737	Fibronectin type-III 1.					perinuclear region of cytoplasm		p.S3737*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCATTGATTCATTTCAGGTT	0.408000													31	59					0	0	0.010818	0	0
C9orf3	84909	broad.mit.edu	37	9	97730049	97730049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:97730049C>T	ENST00000375315.2	+	9	1882	c.1882C>T	c.(1882-1884)Caa>Taa	p.Q628*	C9orf3_ENST00000297979.5_Nonsense_Mutation_p.Q529*	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	628					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGATTTCCTTCAAATGCTACT	0.378000													20	71					0	0	0.012319	0	0
DNAH8	1769	broad.mit.edu	37	6	38941544	38941544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38941544G>A	ENST00000359357.3	+	82	12236	c.11982G>A	c.(11980-11982)tgG>tgA	p.W3994*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W3958*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCGAGTATGGATAACTACGG	0.393000													15	56					0	0	0.004007	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481280	142481280	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142481280C>T	ENST00000603901.1	+	0	354					NR_001296.3																						CACCTGCCGTCATCAATGCCC	0.547000													27	65					0	0	0.009535	0	0
FYB	2533	broad.mit.edu	37	5	39110480	39110480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:39110480G>A	ENST00000351578.6	-	16	2465	c.2275C>T	c.(2275-2277)Ctt>Ttt	p.L759F	FYB_ENST00000505428.1_Missense_Mutation_p.L805F|FYB_ENST00000512982.1_Missense_Mutation_p.L805F|FYB_ENST00000540520.1_Missense_Mutation_p.L815F|FYB_ENST00000515010.1_Missense_Mutation_p.L759F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	759					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAACTCCGAAGGACATAACCA	0.303000													6	14					0	0	0.001168	0	0
LRP10	26020	broad.mit.edu	37	14	23344856	23344856	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23344856C>T	ENST00000359591.4	+	5	1390	c.699C>T	c.(697-699)gcC>gcT	p.A233A	LRP10_ENST00000546834.1_Silent_p.A233A	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	233	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCGGCTGGCCGTGCGCTTCA	0.627000													57	135					0	0	0.014410	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67564286	67564286	+	RNA	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:67564286T>A	ENST00000528089.1	-	0	854																											CACGATGGCTTCTGGGCTATA	0.617000													16	18					0	0	0.008871	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041368	234041368	+	Silent	SNP	G	G	A	rs137942881		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:234041368G>A	ENST00000366618.3	+	2	292	c.147G>A	c.(145-147)gcG>gcA	p.A49A		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGGACGAGGCGATTAAGGAGG	0.642000													56	100					0	0	0.014410	0	0
VRTN	55237	broad.mit.edu	37	14	74824495	74824495	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:74824495C>G	ENST00000256362.4	+	2	1250	c.1009C>G	c.(1009-1011)Cag>Gag	p.Q337E		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	337					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCAGTTCCTCCAGCGGTTCCC	0.667000													46	134					0	0	0.014410	0	0
KMT2B	9757	broad.mit.edu	37	19	36222932	36222932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:36222932C>T	ENST00000420124.1	+	27	5561	c.5561C>T	c.(5560-5562)cCt>cTt	p.P1854L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.P1854L																							AGCGCCCCTCCTCCAGCCCCC	0.642000													11	20					0	0	0.010729	0	0
KMT2D	8085	broad.mit.edu	37	12	49424442	49424442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:49424442G>A	ENST00000301067.7	-	41	13780	c.13781C>T	c.(13780-13782)gCc>gTc	p.A4594V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACTTCCAAAGGCCCCCCTCAG	0.547000													27	54					0	0	0.004656	0	0
TPTE2	93492	broad.mit.edu	37	13	20067628	20067628	+	Missense_Mutation	SNP	C	C	T	rs140148307		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:20067628C>T	ENST00000400230.2	-	2	69	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TPTE2_ENST00000382977.4_Missense_Mutation_p.E9K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E9K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E9K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E9K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E9K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E9K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E9K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	9						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTAAATTCGTTTGTCTGT	0.358000													50	81					0	0	0.014410	0	0
TRIML1	339976	broad.mit.edu	37	4	189060973	189060973	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:189060973G>A	ENST00000332517.3	+	1	401	c.261G>A	c.(259-261)caG>caA	p.Q87Q		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	87					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGTGCTGCAGAGCGAGGATG	0.657000													29	67					0	0	0.006320	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033550	110033550	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110033550C>T	ENST00000369870.3	+	10	1380	c.1365C>T	c.(1363-1365)atC>atT	p.I455I		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	455										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCAGGAAGATCCCACCGGCAG	0.572000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	495					0	0	0.014410	0	0
NTNG1	22854	broad.mit.edu	37	1	107691411	107691411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:107691411G>A	ENST00000370067.1	+	2	823	c.196G>A	c.(196-198)Gat>Aat	p.D66N	NTNG1_ENST00000370070.2_Missense_Mutation_p.D66N|NTNG1_ENST00000370061.3_Missense_Mutation_p.D66N|NTNG1_ENST00000370065.1_Missense_Mutation_p.D66N|NTNG1_ENST00000370074.4_Missense_Mutation_p.D66N|NTNG1_ENST00000370068.1_Missense_Mutation_p.D66N|NTNG1_ENST00000370066.1_Missense_Mutation_p.D66N|NTNG1_ENST00000370071.2_Missense_Mutation_p.D66N|NTNG1_ENST00000370072.3_Missense_Mutation_p.D66N|NTNG1_ENST00000370073.2_Missense_Mutation_p.D66N|NTNG1_ENST00000542803.1_Missense_Mutation_p.D66N			Q9Y2I2	NTNG1_HUMAN	netrin G1	66	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.D66Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGTGAAACTCGATCCTCCGGA	0.438000													72	87					0	0	0.014410	0	0
TRPV5	56302	broad.mit.edu	37	7	142609744	142609744	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142609744G>A	ENST00000265310.1	-	13	2040	c.1692C>T	c.(1690-1692)atC>atT	p.I564I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	564					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGTGGCAATGATGGCGAAGG	0.542000													51	131					0	0	0.014410	0	0
NPR1	4881	broad.mit.edu	37	1	153655936	153655936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153655936C>T	ENST00000368680.3	+	6	1820	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	450					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTACCCTCCTCCTGACATCCC	0.572000													49	116					0	0	0.014410	0	0
INTS1	26173	broad.mit.edu	37	7	1535814	1535814	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:1535814G>A	ENST00000389470.4	-	13	2072	c.2073C>T	c.(2071-2073)gcC>gcT	p.A691A	INTS1_ENST00000404767.3_Silent_p.A563A			Q8N201	INT1_HUMAN	integrator complex subunit 1	563					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTTTGTCCCAGGCGATGCCGG	0.652000													31	75					0	0	0.013726	0	0
MYO1G	64005	broad.mit.edu	37	7	45005696	45005696	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:45005696G>A	ENST00000258787.7	-	16	2269	c.2133C>T	c.(2131-2133)ccC>ccT	p.P711P		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	711	IQ.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GCACAATGATGGGGATGAGGC	0.612000													15	59					0	0	0.006122	0	0
CDH2	1000	broad.mit.edu	37	18	25570243	25570243	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:25570243C>T	ENST00000269141.3	-	10	1839	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	CDH2_ENST00000399380.3_Silent_p.K441K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	472	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.K472N(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTGAATTCCCTTGGCTAATG	0.418000													23	41					0	0	0.003954	0	0
EIF3I	8668	broad.mit.edu	37	1	32691786	32691786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:32691786C>T	ENST00000373586.1	+	5	337	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	89						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GCAGCTGGCCCTTCTCAAGAC	0.517000													32	121					0	0	0.004878	0	0
MCM2	4171	broad.mit.edu	37	3	127336840	127336840	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:127336840C>T	ENST00000265056.7	+	12	2173	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	643	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|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CGCTGACTTTCTCTGAGAACG	0.587000													31	49					0	0	0.003755	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453081	25453081	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:25453081G>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GGGCCCAATGGAGCTGGGCCA	0.597000													20	47					0	0	0.007413	0	0
MYO1H	283446	broad.mit.edu	37	12	109845641	109845641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:109845641G>A	ENST00000310903.5	+	10	1136	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	MYO1H_ENST00000431443.2_Missense_Mutation_p.D344N|MYO1H_ENST00000542883.1_3'UTR			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTACGCTAGAGATGCAATGGC	0.438000													29	73					0	0	0.008361	0	0
ASTN2	23245	broad.mit.edu	37	9	119976733	119976733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:119976733G>A	ENST00000313400.4	-	3	1019	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	ASTN2_ENST00000373996.3_Missense_Mutation_p.H307Y|ASTN2_ENST00000361209.2_Missense_Mutation_p.H307Y|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	307						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGGAGACATGGTTGGCCCGC	0.577000													43	106					0	0	0.006999	0	0
ACOXL	55289	broad.mit.edu	37	2	111789230	111789230	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:111789230C>T	ENST00000389811.4	+	16	1622	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	ACOXL_ENST00000439055.1_Silent_p.F436F			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	466					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGGATTTTTTCCATGCCTGGA	0.458000													28	70					0	0	0.008361	0	0
DNAH5	1767	broad.mit.edu	37	5	13901576	13901576	+	Missense_Mutation	SNP	C	C	T	rs141072655		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13901576C>T	ENST00000265104.4	-	14	1941	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	613	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)					AGAGGAGGATCGTATTTCTGC	0.448000									Kartagener syndrome				18	31					0	0	0.006122	0	0
WNK2	65268	broad.mit.edu	37	9	96051806	96051806	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:96051806G>A	ENST00000297954.4	+	20	4881	c.4881G>A	c.(4879-4881)ggG>ggA	p.G1627G	WNK2_ENST00000427277.2_Silent_p.G1202G|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.G1590G|WNK2_ENST00000349097.3_Silent_p.G1239G			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1627					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGAGAGGGGACCAGCCCC	0.692000													15	32					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179610723	179610723	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179610723G>A	ENST00000360870.5	-	46	16626	c.16404C>T	c.(16402-16404)ctC>ctT	p.L5468L	TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8975	Ig-like 35.						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)			CTCCCATGGTGAGGAATCCCC	0.403000													25	68					0	0	0.004656	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088616	65088616	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65088616T>A	ENST00000544348.1	+	2	853	c.247T>A	c.(247-249)Ttc>Atc	p.F83I	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.F83I|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.F83I			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	83					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CGACCTCCCCTTCCAGTTCAC	0.642000													45	55					0	0	0.010771	0	0
SLC30A9	10463	broad.mit.edu	37	4	42065032	42065032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:42065032C>T	ENST00000264451.6	+	11	1106	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	309					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGCTATATTTCTTCGCTAATT	0.348000													26	131					0	0	0.004656	0	0
TMEM37	140738	broad.mit.edu	37	2	120194503	120194503	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:120194503C>T	ENST00000306406.4	+	2	95	c.60C>T	c.(58-60)tcC>tcT	p.S20S	TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.S32S	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	20						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CCCGCCGGTCCTTCTTTGAAT	0.617000													39	122					0	0	0.004878	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227242	25227242	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:25227242C>T	ENST00000551631.2	+	0	545				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CTAGACTTTTCGATTTCAAGA	0.348000													52	139					0	0	0.014410	0	0
GPR115	221393	broad.mit.edu	37	6	47680209	47680209	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:47680209C>T	ENST00000283303.2	+	5	675	c.417C>T	c.(415-417)tgC>tgT	p.C139C	GPR115_ENST00000327753.3_Silent_p.C139C|GPR115_ENST00000371220.1_Silent_p.C196C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	139					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTAAGAACTGCCCCTTTGATT	0.403000													28	98					0	0	0.008361	0	0
WNK2	65268	broad.mit.edu	37	9	96051605	96051605	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:96051605C>T	ENST00000297954.4	+	20	4680	c.4680C>T	c.(4678-4680)gtC>gtT	p.V1560V	WNK2_ENST00000427277.2_Silent_p.V1135V|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.V1523V|WNK2_ENST00000349097.3_Silent_p.V1172V			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1560					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCCACCGTCCCCCCACAGC	0.711000													4	17					0	0	0.009096	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872956	51872956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:51872956G>A	ENST00000371497.5	+	2	3846	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E984K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E984K|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	987					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)			AATAGCTGCCGAAGAGGACAC	0.502000													37	81					0	0	0.004289	0	0
EXPH5	23086	broad.mit.edu	37	11	108381909	108381909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:108381909C>T	ENST00000265843.4	-	6	4435	c.4325G>A	c.(4324-4326)aGa>aAa	p.R1442K	EXPH5_ENST00000525344.1_Missense_Mutation_p.R1435K|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1366K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1254K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1442					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAAGAACTTCTTCTAGTTTG	0.423000													30	56					0	0	0.006320	0	0
GPR113	165082	broad.mit.edu	37	2	26533851	26533851	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:26533851C>T	ENST00000333478.6	-	8	2730	c.2148G>A	c.(2146-2148)ggG>ggA	p.G716G	GPR113_ENST00000421160.2_Silent_p.G846G|GPR113_ENST00000311519.1_Silent_p.G915G|GPR113_ENST00000541401.1_Silent_p.G518G|GPR113_ENST00000459892.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	915	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGCATTCCCCCTCCCTCA	0.612000													14	24					0	0	0.003163	0	0
SYN2	6854	broad.mit.edu	37	3	12182185	12182185	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:12182185G>A	ENST00000432424.2	+	0	584							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGTCCTTGGAGATTATGATAT	0.433000													17	65					0	0	0.010504	0	0
CACNG2	10369	broad.mit.edu	37	22	36960801	36960801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:36960801G>A	ENST00000300105.6	-	4	1550	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	190					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GACCATCTCGGCGATGATGAA	0.597000													140	496					0	0	0.014410	0	0
DPP10	57628	broad.mit.edu	37	2	116548728	116548728	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:116548728A>T	ENST00000410059.1	+	18	2083	c.1603A>T	c.(1603-1605)Att>Ttt	p.I535F	DPP10_ENST00000310323.8_Missense_Mutation_p.I528F|DPP10_ENST00000409163.1_Missense_Mutation_p.I485F|DPP10_ENST00000393147.2_Missense_Mutation_p.I539F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	535					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAGCCAGAAATTAAAATCCT	0.328000													42	86					0	0	0.014410	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522422	32522422	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32522422C>T	ENST00000411500.1	-	0	740					NR_001298.1																						AGCACAGTCCCCTTCTTGGTG	0.493000													93	116					0	0	0.014410	0	0
GALNT6	11226	broad.mit.edu	37	12	51751178	51751178	+	Silent	SNP	C	C	T	rs148799204		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:51751178C>T	ENST00000543196.2	-	9	1762	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	GALNT6_ENST00000356317.3_Silent_p.G519G			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	519	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGAGGGGCTTCCCCCCGCGGT	0.602000													37	70					0	0	0.010771	0	0
SCAND3	114821	broad.mit.edu	37	6	28542523	28542523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28542523C>T	ENST00000452236.2	-	3	2576	c.1959G>A	c.(1957-1959)atG>atA	p.M653I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	653					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						GTTTCCTCTTCATTGTGCTGG	0.433000													45	83					0	0	0.011902	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164527	12164527	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:12164527C>T	ENST00000379388.2	+	9	8322	c.7990C>T	c.(7990-7992)Ctg>Ttg	p.L2664L	HIVEP1_ENST00000541134.1_Silent_p.L529L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2664					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCACAACCTCTGCTGAAGGC	0.552000													18	41					0	0	0.008871	0	0
SPDYE4	388333	broad.mit.edu	37	17	8660621	8660621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:8660621G>A	ENST00000328794.6	-	2	475	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	100										breast(1)|endometrium(2)|kidney(1)	4						AGGGAGCACGGAGGATGCTCG	0.567000													4	3					0	0	0.001168	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190486	72190486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:72190486C>T	ENST00000555818.1	+	16	4742	c.4394C>T	c.(4393-4395)tCc>tTc	p.S1465F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S919F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1444F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1444F|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1465	Ser-rich.				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)		tcctcttcctcctcctcctcT	0.552000													60	145					0	0	0.014410	0	0
VWCE	220001	broad.mit.edu	37	11	61026432	61026432	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:61026432G>A	ENST00000335613.5	-	20	2969	c.2583C>T	c.(2581-2583)tcC>tcT	p.S861S	VWCE_ENST00000535710.1_Silent_p.S326S	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	861	Pro-rich.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GAGCCCCTGGGGAAGCTAGAG	0.672000													25	20					0	0	0.005443	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128660	126128660	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:126128660G>A	ENST00000299308.3	+	6	1469	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	487						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGAATGGGAAGGAAATGAAGA	0.483000													21	81					0	0	0.010504	0	0
TP63	8626	broad.mit.edu	37	3	189612176	189612176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:189612176G>A	ENST00000264731.3	+	14	2017	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	TP63_ENST00000440651.2_Missense_Mutation_p.R639Q|TP63_ENST00000456148.1_Missense_Mutation_p.R545Q|TP63_ENST00000449992.1_Missense_Mutation_p.R464Q|TP63_ENST00000354600.5_Missense_Mutation_p.R549Q|TP63_ENST00000382063.4_Missense_Mutation_p.R558Q|TP63_ENST00000320472.5_3'UTR	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	643	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATGCTGTGCGATTCACCCTC	0.552000										HNSCC(45;0.13)			39	80					0	0	0.009718	0	0
GSTA5	221357	broad.mit.edu	37	6	52698975	52698975	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:52698975C>T	ENST00000370989.1	-	5	536	c.378G>A	c.(376-378)gaG>gaA	p.E126E	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Silent_p.E126E			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	126	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.E126D(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTTTTATTTTCTCTTTGACCA	0.388000													106	354					0	0	0.014410	0	0
HOOK1	51361	broad.mit.edu	37	1	60314051	60314051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:60314051G>A	ENST00000371208.3	+	11	1251	c.994G>A	c.(994-996)Gat>Aat	p.D332N	HOOK1_ENST00000395561.2_Missense_Mutation_p.D290N|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	332	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAAGCTACAAGATCTGAATGA	0.343000													7	31					0	0	0.004482	0	0
FAM155A	728215	broad.mit.edu	37	13	107823029	107823029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:107823029G>A	ENST00000375915.2	-	3	1331	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	398						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTGTGACAGGAGCCACTTTT	0.448000													56	25					0	0	0.014410	0	0
DPM2	8818	broad.mit.edu	37	9	130698837	130698837	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:130698837A>C	ENST00000314392.8	-	3	854	c.191T>G	c.(190-192)tTt>tGt	p.F64C	RP11-203J24.8_ENST00000592240.1_RNA|DPM2_ENST00000373110.4_Missense_Mutation_p.F64C	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	64					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane	protein binding			lung(1)	1						CTTACCCACAAACAGGAGCAG	0.582000													54	165					0	0	0.014410	0	0
RNH1	6050	broad.mit.edu	37	11	502132	502132	+	Nonsense_Mutation	SNP	G	G	A	rs71462090		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:502132G>A	ENST00000534797.1	-	1	1438	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	RNH1_ENST00000438658.2_Nonsense_Mutation_p.Q11*|RNH1_ENST00000356187.5_Nonsense_Mutation_p.Q11*|RNH1_ENST00000397614.1_Nonsense_Mutation_p.Q11*|RNH1_ENST00000397615.2_Nonsense_Mutation_p.Q11*|RNH1_ENST00000354420.2_Nonsense_Mutation_p.Q11*|RNH1_ENST00000397604.3_Nonsense_Mutation_p.Q11*|RNH1_ENST00000533592.1_5'UTR|RNH1_ENST00000533410.1_Nonsense_Mutation_p.Q11*			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	11	2 X 5 AA tandem repeats of S-L-D-I-Q.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTCACACTGGATGTCCAGG	0.627000													5	32					0	0	0.001984	0	0
ELFN2	114794	broad.mit.edu	37	22	37771275	37771275	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:37771275C>T	ENST00000402918.1	-	3	1085	c.300G>A	c.(298-300)ctG>ctA	p.L100L	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.L100L	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	100						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCGACTGGCCCAGGAAGGCAC	0.597000													72	106					0	0	0.014410	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993536	140993536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:140993536C>T	ENST00000285879.4	+	4	632	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	116							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGATTTCTCAGAGCCCTCC	0.532000										HNSCC(15;0.026)			80	98					0	0	0.014410	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291656	1291656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1291656G>A	ENST00000461509.2	+	3	670	c.476G>A	c.(475-477)gGg>gAg	p.G159E	TPSAB1_ENST00000338844.3_Missense_Mutation_p.G152E			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	152	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	p.G152>?(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TTCCCCCCGGGGATGCCGTGC	0.682000													3	39					0	0	0.009096	0	0
RPTOR	57521	broad.mit.edu	37	17	78897296	78897296	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:78897296C>T	ENST00000306801.3	+	23	2993	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.S719S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	877					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCAGGGGCTCCCCTCCGGCGT	0.632000													12	79					0	0	0.010729	0	0
GALNT14	79623	broad.mit.edu	37	2	31165110	31165110	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:31165110C>T	ENST00000349752.5	-	9	1527	c.888G>A	c.(886-888)ggG>ggA	p.G296G	GALNT14_ENST00000356174.3_Silent_p.G263G|GALNT14_ENST00000420311.2_Silent_p.G261G|GALNT14_ENST00000406653.1_Silent_p.G276G|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.G301G	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	296	Catalytic subdomain B.					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)					TATCATATTTCCCCAGGTAAT	0.493000													38	107					0	0	0.007835	0	0
NYAP1	222950	broad.mit.edu	37	7	100086497	100086497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100086497C>T	ENST00000423930.1	+	4	1312	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	NYAP1_ENST00000300179.2_Missense_Mutation_p.P385S|NYAP1_ENST00000454988.1_Missense_Mutation_p.P328S			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	385	Pro-rich.																GACGCCTCCCCCACCGCCTCC	0.711000													27	64					0	0	0.008361	0	0
MCCC2	64087	broad.mit.edu	37	5	70952669	70952669	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:70952669C>T	ENST00000340941.6	+	17	1803	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	MCCC2_ENST00000323375.8_Silent_p.F520F	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	558					leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGACTGACTTCGGTATCTTCA	0.423000													51	71					0	0	0.014410	0	0
CLEC5A	23601	broad.mit.edu	37	7	141629994	141629994	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141629994G>A	ENST00000546910.1	-	7	673	c.477C>T	c.(475-477)ttC>ttT	p.F159F	CLEC5A_ENST00000551012.2_Silent_p.F136F|MGAM_ENST00000497554.1_Intron|CLEC5A_ENST00000439991.1_Silent_p.F55F	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	159	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCGCACAGTTGAAATTCTGAT	0.393000													30	66					0	0	0.010818	0	0
SPATA31A2	642265	broad.mit.edu	37	9	39888229	39888229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:39888229G>A	ENST00000456183.2	+	4	1245	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		GCTCTGGCAGGAAAGTTTTTG	0.527000													170	416					0	0	0.014410	0	0
LMX1B	4010	broad.mit.edu	37	9	129458605	129458605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:129458605G>A	ENST00000355497.5	+	8	1103	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	LMX1B_ENST00000561065.1_Missense_Mutation_p.D343N|LMX1B_ENST00000373474.4_Missense_Mutation_p.D362N|LMX1B_ENST00000526117.1_Missense_Mutation_p.D355N|LMX1B_ENST00000425646.2_Missense_Mutation_p.D332N	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	339					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CATCGACAGCGATACCTCCTT	0.652000									Nail-Patella Syndrome				84	220					0	0	0.014410	0	0
VRK2	7444	broad.mit.edu	37	2	58350302	58350302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:58350302G>A	ENST00000435505.2	+	11	1355	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	VRK2_ENST00000417641.2_Missense_Mutation_p.E204K|VRK2_ENST00000340157.4_Missense_Mutation_p.E204K|VRK2_ENST00000412104.2_Missense_Mutation_p.E204K|VRK2_ENST00000440705.2_Missense_Mutation_p.E181K			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	204	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ACAGTATCAGGAAAATCCTAG	0.383000													34	71					0	0	0.004289	0	0
NETO2	81831	broad.mit.edu	37	16	47117342	47117342	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:47117342G>A	ENST00000562435.1	-	9	1752	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	NETO2_ENST00000303155.5_Silent_p.S449S	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	456			S -> T (in dbSNP:rs2231983).			integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GAAGTTCCATGGAACTGAGGT	0.507000										HNSCC(25;0.065)			95	200					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141259393	141259393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141259393G>A	ENST00000389484.3	-	55	9684	c.8713C>T	c.(8713-8715)Ccc>Tcc	p.P2905S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2905	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCCACTGGGAATGCACCTG	0.383000										TSP Lung(27;0.18)			6	46					0	0	0.001168	0	0
LRRC37B	114659	broad.mit.edu	37	17	30380327	30380327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:30380327C>T	ENST00000327564.7	+	12	2966	c.2905C>T	c.(2905-2907)Cca>Tca	p.P969S	LRRC37B_ENST00000341671.7_Missense_Mutation_p.P942S|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P860S|LRRC37B_ENST00000394713.3_Missense_Mutation_p.P891S|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P903S			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	942						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CAAAGACAACCCATCAATATC	0.333000													19	75					0	0	0.014323	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35926016	35926016	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:35926016G>A	ENST00000325722.3	-	9	1551	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	439	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTACTGAACGATTTTATCAT	0.393000													34	112					0	0	0.004289	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554679	140554679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140554679G>A	ENST00000231137.3	+	1	2437	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		755					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCTGACTGGAGGCTCCGG	0.562000													69	419					0	0	0.014410	0	0
VSIG2	23584	broad.mit.edu	37	11	124617446	124617446	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124617446G>A	ENST00000326621.5	-	7	1069	c.969C>T	c.(967-969)ctC>ctT	p.L323L	NRGN_ENST00000526916.2_3'UTR	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	323						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CGACCATAGGGAGCTTGGACT	0.527000													33	67					0	0	0.004878	0	0
RTL1	388015	broad.mit.edu	37	14	101349367	101349367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101349367G>A	ENST00000534062.1	-	1	1817	c.1759C>T	c.(1759-1761)Ctt>Ttt	p.L587F	MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	587										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATTCAGAAAGATCATCGGAT	0.567000													35	96					0	0	0.006230	0	0
DPYD	1806	broad.mit.edu	37	1	97564103	97564103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:97564103G>A	ENST00000370192.3	-	21	2808	c.2708C>T	c.(2707-2709)gCt>gTt	p.A903V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	903					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGGTGAAAAAGCTACATTTTG	0.358000													36	44					0	0	0.006999	0	0
SLC25A21	89874	broad.mit.edu	37	14	37344171	37344171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:37344171C>T	ENST00000331299.5	-	2	624	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	SLC25A21_ENST00000557611.1_5'UTR|SLC25A21_ENST00000555449.1_Missense_Mutation_p.V37M	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	37					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CTGGTTTTCACCACATCTAGG	0.378000													9	30					0	0	0.008291	0	0
OR4C3	256144	broad.mit.edu	37	11	48346885	48346885	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48346885T>A	ENST00000319856.4	+	1	414	c.393T>A	c.(391-393)ttT>ttA	p.F131L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGCTCATTTTTTGGGAGGTG	0.468000													20	297					0	0	0.010818	0	0
MAP1A	4130	broad.mit.edu	37	15	43816735	43816735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43816735C>T	ENST00000382031.1	+	5	3809	c.3778C>T	c.(3778-3780)Caa>Taa	p.Q1260*	MAP1A_ENST00000399453.1_Nonsense_Mutation_p.Q1022*|MAP1A_ENST00000300231.5_Nonsense_Mutation_p.Q1022*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1022						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTCTGAGCCCCAAGACTTTCA	0.567000													30	97					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179613768	179613768	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179613768C>T	ENST00000360870.5	-	46	13581	c.13359G>A	c.(13357-13359)ggG>ggA	p.G4453G	TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	581	Ig-like 24.						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)			TCACCTTTTTCCCCGGGTAGT	0.348000													15	30					0	0	0.002450	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160264545	160264545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:160264545G>A	ENST00000264431.4	+	16	3179	c.2760G>A	c.(2758-2760)atG>atA	p.M920I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	920	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTGCCCTCATGTTCAGGACTC	0.423000													17	102					0	0	0.008871	0	0
XIRP2	129446	broad.mit.edu	37	2	168101234	168101234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:168101234C>T	ENST00000409195.1	+	9	3421	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S889L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1111L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	936					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						GAAAAAGTTTCGTTAATGACC	0.368000													15	32					0	0	0.003163	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030088	95030088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:95030088C>T	ENST00000557004.1	+	2	690	c.269C>T	c.(268-270)tCc>tTc	p.S90F	SERPINA4_ENST00000298841.5_Missense_Mutation_p.S90F|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.S90F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	90					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCCATGCTTTCCCTGGGGGCC	0.607000													22	65					0	0	0.010504	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567290	142567290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:142567290G>A	ENST00000295992.3	-	3	523	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.L73F	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	73	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CGGAAATTGAGAACGACTACT	0.453000													64	96					0	0	0.014410	0	0
PAK2	5062	broad.mit.edu	37	3	196555209	196555209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:196555209C>T	ENST00000327134.3	+	15	1830	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	503					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTGAAACTGGCCAAACCGTTA	0.398000													70	384					0	0	0.014410	0	0
RIMS2	9699	broad.mit.edu	37	8	104709396	104709396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:104709396G>A	ENST00000406091.3	+	2	259	c.259G>A	c.(259-261)Ggt>Agt	p.G87S		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	118	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAACAGAAGGGTGATGCGCC	0.423000										HNSCC(12;0.0054)			12	58					0	0	0.013537	0	0
HOXD1	3231	broad.mit.edu	37	2	177054007	177054007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:177054007C>T	ENST00000331462.4	+	1	701	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CTTCGGCGAACCCGGCCCTTT	0.682000													5	20					0	0	0.000602	0	0
ZNF443	10224	broad.mit.edu	37	19	12542018	12542018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:12542018G>A	ENST00000301547.5	-	4	1165	c.968C>T	c.(967-969)tCc>tTc	p.S323F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	323					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCTTTGAAGGGAACCGGAAAC	0.433000													52	119					0	0	0.014410	0	0
ZNF658	26149	broad.mit.edu	37	9	40772475	40772475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:40772475C>T	ENST00000602553.1	-	5	3094	c.2800G>A	c.(2800-2802)Ggg>Agg	p.G934R	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.G934R			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTTTCTCCCCCGTATGAACT	0.438000													71	196					0	0	0.014410	0	0
OR51F1	256892	broad.mit.edu	37	11	4790669	4790669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4790669G>A	ENST00000380383.1	-	1	499	c.500C>T	c.(499-501)cCa>cTa	p.P167L	OR51F1_ENST00000343430.3_Missense_Mutation_p.P160L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	160						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAAAAGTAGTGGCAATATTAG	0.403000													13	94					0	0	0.001855	0	0
FAT3	120114	broad.mit.edu	37	11	92532816	92532816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:92532816C>T	ENST00000298047.6	+	9	6654	c.6637C>T	c.(6637-6639)Cca>Tca	p.P2213S	FAT3_ENST00000525166.1_Missense_Mutation_p.P2063S|FAT3_ENST00000409404.2_Missense_Mutation_p.P2213S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2213	Cadherin 20.				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)				TGCCACCAGTCCAGAAGGCCA	0.418000										TCGA Ovarian(4;0.039)			30	40					0	0	0.008361	0	0
MYH2	4620	broad.mit.edu	37	17	10428595	10428595	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10428595C>T	ENST00000245503.5	-	33	4992	c.4608G>A	c.(4606-4608)aaG>aaA	p.K1536K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.K1536K|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1536					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						CCACTTGTTTCTTTATTTTCT	0.373000													35	49					0	0	0.004289	0	0
DSP	1832	broad.mit.edu	37	6	7572293	7572293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:7572293G>A	ENST00000379802.3	+	15	2463	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	DSP_ENST00000418664.2_Missense_Mutation_p.E708K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	708	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAAATTAACGAGCTTAAGGT	0.408000													14	40					0	0	0.003163	0	0
CHD5	26038	broad.mit.edu	37	1	6185624	6185624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:6185624G>A	ENST00000262450.3	-	28	4319	c.4220C>T	c.(4219-4221)cCc>cTc	p.P1407L	CHD5_ENST00000378021.1_Missense_Mutation_p.P264L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1407					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGGGGGCAGGGGCTTGTCCCT	0.637000													11	10					0	0	0.010729	0	0
GUK1	2987	broad.mit.edu	37	1	228334618	228334618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:228334618C>T	ENST00000366718.1	+	4	657	c.230C>T	c.(229-231)tCg>tTg	p.S77L	GUK1_ENST00000366722.1_Missense_Mutation_p.S77L|GUK1_ENST00000366721.1_Missense_Mutation_p.S79L|GUK1_ENST00000366726.1_Missense_Mutation_p.S77L|GUK1_ENST00000366730.1_Missense_Mutation_p.S77L|GUK1_ENST00000312726.4_Missense_Mutation_p.S77L|GUK1_ENST00000366723.1_Missense_Mutation_p.S98L|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366716.1_Missense_Mutation_p.S77L|GUK1_ENST00000391865.3_Missense_Mutation_p.S98L|GUK1_ENST00000366728.2_Missense_Mutation_p.S98L	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	77	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)				GCCGAGTTCTCGGGGAACCTG	0.612000													44	158					0	0	0.014410	0	0
PHACTR3	116154	broad.mit.edu	37	20	58381164	58381164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:58381164G>A	ENST00000371015.1	+	8	1710	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	PHACTR3_ENST00000395636.2_Missense_Mutation_p.E374K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E374K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E304K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E412K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E374K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E304K	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	415						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGCAAACAGGAACTAGAAGA	0.517000													96	261					0	0	0.014410	0	0
EXOC4	60412	broad.mit.edu	37	7	133041196	133041196	+	Silent	SNP	C	C	T	rs35224977	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:133041196C>T	ENST00000253861.4	+	6	905	c.876C>T	c.(874-876)atC>atT	p.I292I	EXOC4_ENST00000393161.2_Silent_p.I292I|EXOC4_ENST00000539845.1_Silent_p.I191I	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	292					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TGAAGAAGATCCCAGAAACAG	0.473000													18	39					0	0	0.006122	0	0
OR1J1	347168	broad.mit.edu	37	9	125240164	125240164	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125240164G>A	ENST00000259357.2	-	1	71	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGAGGCCCAGGAGGAGGAACT	0.562000													53	123					0	0	0.014410	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860280	228860280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:228860280C>T	ENST00000392056.3	-	8	4625	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1527						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTCTTCCTCATTGGCA	0.572000													49	136					0	0	0.014410	0	0
GLCE	26035	broad.mit.edu	37	15	69561416	69561416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:69561416C>T	ENST00000261858.2	+	5	1915	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	GLCE_ENST00000559420.2_Missense_Mutation_p.R499C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	563					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CTATGACCTCCGTCACTTCAT	0.507000													64	167					0	0	0.014410	0	0
TRAV22	28661	broad.mit.edu	37	14	22539320	22539320	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22539320G>A	ENST00000390450.3	+	0	313																											AAAACCCTTGGGGACAGCTCA	0.483000													29	41					0	0	0.008361	0	0
WDR65	149465	broad.mit.edu	37	1	43675583	43675583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:43675583C>T	ENST00000372492.4	+	11	2249	c.1925C>T	c.(1924-1926)aCc>aTc	p.T642I	WDR65_ENST00000528956.1_Missense_Mutation_p.T642I	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	642										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGTCCTATCACCAAGGTGAGC	0.557000													27	81					0	0	0.003954	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579545	35579545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:35579545G>A	ENST00000373330.1	+	11	2288	c.2114G>A	c.(2113-2115)gGa>gAa	p.G705E	ZMYM1_ENST00000359858.4_Missense_Mutation_p.G705E|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	705						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAAATTGGAGTTGATATG	0.353000													49	107					0	0	0.014410	0	0
DUOXA2	405753	broad.mit.edu	37	15	45409340	45409340	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:45409340C>T	ENST00000323030.5	+	5	891	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	202					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCACGCCGGCCCCGCTCTACG	0.701000													11	29					0	0	0.010729	0	0
CCDC148	130940	broad.mit.edu	37	2	159033041	159033041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:159033041C>T	ENST00000283233.5	-	13	1934	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	CCDC148_ENST00000409187.1_Missense_Mutation_p.E550K|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	541										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTGCTGTTCATTGTATGTA	0.348000													6	20					0	0	0.001984	0	0
SYNJ2	8871	broad.mit.edu	37	6	158485992	158485992	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:158485992G>A	ENST00000355585.4	+	11	1569	c.1494G>A	c.(1492-1494)ggG>ggA	p.G498G	SYNJ2_ENST00000367122.2_Silent_p.G498G|SYNJ2_ENST00000367121.3_Silent_p.G498G|SYNJ2_ENST00000449859.2_Silent_p.G426G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	498							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGACAAAGGGGGCATGCTGC	0.657000													11	16					0	0	0.008291	0	0
TNXB	7148	broad.mit.edu	37	6	32053761	32053761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32053761C>T	ENST00000375244.3	-	7	3115	c.2914G>A	c.(2914-2916)Gat>Aat	p.D972N	TNXB_ENST00000375247.2_Missense_Mutation_p.D972N			P22105	TENX_HUMAN	tenascin XB	1059	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGTCTCATCTCTGCCCAGC	0.687000													101	233					0	0	0.014410	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608332	84608332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:84608332C>T	ENST00000344803.2	+	4	2994	c.2947C>T	c.(2947-2949)Ctt>Ttt	p.L983F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGTCCCCATCCTTGATCGTCC	0.493000													58	178					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38834547	38834547	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38834547C>T	ENST00000359357.3	+	45	6191	c.5937C>T	c.(5935-5937)atC>atT	p.I1979I	DNAH8_ENST00000449981.2_Silent_p.I2196I|DNAH8_ENST00000441566.1_Intron					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTTTCAGATCATTATGAGAG	0.299000													16	49					0	0	0.004007	0	0
LILRA2	11027	broad.mit.edu	37	19	55098721	55098721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:55098721G>A	ENST00000251377.3	+	9	1493	c.1360G>A	c.(1360-1362)Ggt>Agt	p.G454S	LILRA2_ENST00000391737.1_Missense_Mutation_p.G425S|LILRA2_ENST00000391738.3_Missense_Mutation_p.G454S|LILRA2_ENST00000251376.3_Missense_Mutation_p.G437S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CATCCGCATGGGTGTGGCTGG	0.577000													37	56					0	0	0.006230	0	0
ASPM	259266	broad.mit.edu	37	1	197097687	197097687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:197097687G>A	ENST00000367409.4	-	10	3125	c.2869C>T	c.(2869-2871)Cca>Tca	p.P957S	ASPM_ENST00000367408.1_Missense_Mutation_p.P207S|ASPM_ENST00000294732.7_Missense_Mutation_p.P957S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	957	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCATCAAATGGTGTCTGAACA	0.393000													28	81					0	0	0.007291	0	0
TRPV5	56302	broad.mit.edu	37	7	142609750	142609750	+	Silent	SNP	G	G	A	rs4252498		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142609750G>A	ENST00000265310.1	-	13	2034	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	562					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAATGATGGCGAAGGCGAAGT	0.542000													58	124					0	0	0.014410	0	0
ADH7	131	broad.mit.edu	37	4	100341927	100341927	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:100341927G>A	ENST00000437033.2	-	6	1091	c.588C>T	c.(586-588)gtC>gtT	p.V196V	ADH7_ENST00000476959.1_Silent_p.V216V|ADH7_ENST00000209665.4_Silent_p.V208V|ADH7_ENST00000482593.1_Silent_p.V139V			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	208					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GGCCAAAGACGACGCAAGTGG	0.468000													10	36					0	0	0.006214	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566764	20566764	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20566764T>A	ENST00000329697.6	-	4	591	c.423A>T	c.(421-423)aaA>aaT	p.K141N	ACSM2B_ENST00000414188.2_Missense_Mutation_p.K141N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.K141N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.K141N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.K62N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	141					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTCAGTGGATTTCATCTGGA	0.438000													18	85					0	0	0.002780	0	0
RSPO2	340419	broad.mit.edu	37	8	108970443	108970443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:108970443G>A	ENST00000276659.5	-	5	1101	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	RSPO2_ENST00000517781.1_Missense_Mutation_p.R97C|RSPO2_ENST00000378439.2_Missense_Mutation_p.R97C|RSPO2_ENST00000517939.1_Missense_Mutation_p.R94C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	161	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCACATGTGCGATTATTTCTG	0.383000													27	55					0	0	0.006320	0	0
NPAP1	23742	broad.mit.edu	37	15	24921299	24921299	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:24921299G>A	ENST00000329468.2	+	1	759	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGGCCATCAGGAAGACACCCA	0.667000													17	51					0	0	0.008871	0	0
MUC17	140453	broad.mit.edu	37	7	100679927	100679927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100679927C>T	ENST00000306151.4	+	3	5294	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1744	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAACTCAACTCCTAGTGAAGG	0.493000													183	543					0	0	0.014410	0	0
ZNF462	58499	broad.mit.edu	37	9	109734355	109734355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:109734355G>A	ENST00000277225.5	+	8	6786	c.6497G>A	c.(6496-6498)aGg>aAg	p.R2166K	ZNF462_ENST00000441147.2_Missense_Mutation_p.R1072K|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2226K|ZNF462_ENST00000542028.1_Missense_Mutation_p.R123K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCCTGGCAAGGAACAACAGC	0.532000													24	60					0	0	0.003954	0	0
WDR90	197335	broad.mit.edu	37	16	706349	706349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:706349C>T	ENST00000549091.1	+	18	2106	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C	WDR90_ENST00000293879.4_Missense_Mutation_p.R672C	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	672										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGATGGCCTCCGTGTGCTGTC	0.711000													9	29					0	0	0.004482	0	0
HCN1	348980	broad.mit.edu	37	5	45262603	45262603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:45262603G>A	ENST00000303230.4	-	8	2150	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	698						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTGGTGTAGGAGCAGGGTGA	0.637000													22	51					0	0	0.014323	0	0
NRD1	4898	broad.mit.edu	37	1	52293523	52293523	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:52293523G>A	ENST00000354831.7	-	7	1278	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	NRD1_ENST00000539524.1_Silent_p.I231I|NRD1_ENST00000544028.1_Silent_p.I163I|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.I295I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	294					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTAGTGGGTGGATGAAGAACT	0.353000													22	45					0	0	0.004656	0	0
RIMS1	22999	broad.mit.edu	37	6	73108660	73108660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:73108660C>T	ENST00000264839.7	+	29	4271	c.4271C>T	c.(4270-4272)cCa>cTa	p.P1424L	RIMS1_ENST00000522291.1_Missense_Mutation_p.P1174L|RIMS1_ENST00000538414.1_Missense_Mutation_p.P381L|RIMS1_ENST00000401910.3_Missense_Mutation_p.P895L|RIMS1_ENST00000521978.1_Missense_Mutation_p.P1575L|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1225L|RIMS1_ENST00000425662.2_Missense_Mutation_p.P643L|RIMS1_ENST00000518273.1_Missense_Mutation_p.P1254L|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1358L|RIMS1_ENST00000517827.1_Missense_Mutation_p.P709L|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1358L|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000414192.2_Missense_Mutation_p.P102L|RIMS1_ENST00000523963.1_Missense_Mutation_p.P700L|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1364L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1575					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGTTTAGCTCCATATGTCAAA	0.318000													10	15					0	0	0.008291	0	0
TRPM6	140803	broad.mit.edu	37	9	77418784	77418784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:77418784C>T	ENST00000451710.3	-	15	1894	c.1657G>A	c.(1657-1659)Gga>Aga	p.G553R	TRPM6_ENST00000360774.1_Missense_Mutation_p.G553R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.G553R|TRPM6_ENST00000449912.2_Missense_Mutation_p.G548R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G548R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	553					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCTATTTCCTGAGGAGTGT	0.393000													20	80					0	0	0.008871	0	0
WDR35	57539	broad.mit.edu	37	2	20169255	20169255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:20169255G>A	ENST00000345530.3	-	9	1109	c.994C>T	c.(994-996)Cga>Tga	p.R332*	WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Nonsense_Mutation_p.R332*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	332										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATTAGGTCGAATGTTTGCA	0.318000													17	32					0	0	0.004007	0	0
ATP1A2	477	broad.mit.edu	37	1	160097516	160097516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160097516C>T	ENST00000361216.3	+	8	1012	c.923C>T	c.(922-924)tCc>tTc	p.S308F	ATP1A2_ENST00000392233.3_Missense_Mutation_p.S308F|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	308					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTCGTGCTCTCCCTCATCCTG	0.572000													122	228					0	0	0.014410	0	0
HRH1	3269	broad.mit.edu	37	3	11301956	11301956	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:11301956G>A	ENST00000397056.1	+	3	1424	c.1233G>A	c.(1231-1233)agG>agA	p.R411R	HRH1_ENST00000438284.2_Silent_p.R411R|HRH1_ENST00000431010.2_Silent_p.R411R	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	411					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCGCGAAAGGAAGGCCGCCA	0.478000													155	192					0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10358002	10358002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10358002G>A	ENST00000255381.2	-	22	2671	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	854					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCATGTTGGCCATCTCCTT	0.448000													40	78					0	0	0.006999	0	0
OR7C2	26658	broad.mit.edu	37	19	15052452	15052452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15052452C>T	ENST00000248072.3	+	1	152	c.152C>T	c.(151-153)tCa>tTa	p.S51L		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ACCATCAGTTCAGACTCCCAC	0.517000													84	96					0	0	0.014410	0	0
IGHG3	3502	broad.mit.edu	37	14	106236177	106236177	+	RNA	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106236177C>A	ENST00000390551.2	-	0	626																											TCCACGCCGTCCACGTACCAC	0.602000													109	279					1.52612e-33	1.56494e-33	0.014410	1	0
TRPM7	54822	broad.mit.edu	37	15	50886692	50886692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:50886692G>A	ENST00000313478.7	-	24	3690	c.3409C>T	c.(3409-3411)Cat>Tat	p.H1137Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H1137Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1137					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GAAACTATATGGCTAAGAATG	0.348000													50	132					0	0	0.014410	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22554980	22554980	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22554980C>T	ENST00000390451.2	+	0	151																											GAAACAAAGTCCTCAATCTTT	0.413000													20	43					0	0	0.008871	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24468280	24468280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:24468280C>T	ENST00000382137.3	-	2	295	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R76Q|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R76Q|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R76Q	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	76	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CTACTAACCTCGTTCTCCCTT	0.443000													6	40					0	0	0.008291	0	0
RP1L1	94137	broad.mit.edu	37	8	10468130	10468130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10468130C>T	ENST00000382483.3	-	4	3701	c.3478G>A	c.(3478-3480)Gga>Aga	p.G1160R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1160					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGTCACATCCTGGCCACAGG	0.577000													23	81					0	0	0.014323	0	0
CHD5	26038	broad.mit.edu	37	1	6172243	6172243	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:6172243C>T	ENST00000262450.3	-	35	5196	c.5097G>A	c.(5095-5097)ggG>ggA	p.G1699G	CHD5_ENST00000378021.1_Silent_p.G556G	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1699					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTTGAATTTCCCCTTCTTGT	0.547000													48	149					0	0	0.014410	0	0
IGFALS	3483	broad.mit.edu	37	16	1842307	1842307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1842307C>T	ENST00000415638.3	-	2	305	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	IGFALS_ENST00000568221.1_Silent_p.R48R|IGFALS_ENST00000215539.3_Missense_Mutation_p.G38S	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	38					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CACGCTGGGCCCTCGGCTTCC	0.716000													8	42					0	0	0.003080	0	0
PLAA	9373	broad.mit.edu	37	9	26913937	26913937	+	Missense_Mutation	SNP	G	G	A	rs145325113	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:26913937G>A	ENST00000397292.3	-	11	1912	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	PLAA_ENST00000520884.1_Missense_Mutation_p.R499C	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	499					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GGTACATAACGACCAGCACCT	0.353000													28	52					0	0	0.013726	0	0
PDE1C	5137	broad.mit.edu	37	7	31864525	31864525	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:31864525G>A	ENST00000396184.3	-	14	1566	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	PDE1C_ENST00000396193.1_Silent_p.I514I|PDE1C_ENST00000321453.7_Silent_p.I454I|PDE1C_ENST00000396182.2_Silent_p.I454I|PDE1C_ENST00000396191.1_Silent_p.I454I	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	454	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGGTTTCATCGATTAATGGAC	0.498000													15	88					0	0	0.004007	0	0
GDF2	2658	broad.mit.edu	37	10	48414135	48414135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:48414135G>A	ENST00000249598.1	-	2	892	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	245					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.P245S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GAACCTGGGGGGACACTGATG	0.572000													38	54					0	0	0.004289	0	0
HEG1	57493	broad.mit.edu	37	3	124748248	124748248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124748248G>A	ENST00000311127.4	-	2	468	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	134						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGACACTGTTGAAAAGTCCTC	0.483000													61	106					0	0	0.014410	0	0
TC2N	123036	broad.mit.edu	37	14	92251508	92251508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:92251508G>A	ENST00000435962.2	-	11	1683	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	TC2N_ENST00000556018.1_Nonsense_Mutation_p.Q390*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.Q454*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.Q454*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	454	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTACTAACCTGGCCCACAAAG	0.318000													25	86					0	0	0.004656	0	0
WSCD2	9671	broad.mit.edu	37	12	108642091	108642091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:108642091G>A	ENST00000332082.4	+	10	2487	c.1669G>A	c.(1669-1671)Ggt>Agt	p.G557S	WSCD2_ENST00000547525.1_Missense_Mutation_p.G557S|WSCD2_ENST00000261400.3_Missense_Mutation_p.G577S|WSCD2_ENST00000549903.1_Missense_Mutation_p.G577S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	557						integral to membrane		p.G557R(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACCTAACGGGTGTCCCCGA	0.587000													20	49					0	0	0.010504	0	0
NPR3	4883	broad.mit.edu	37	5	32724811	32724811	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:32724811C>T	ENST00000265074.8	+	2	1120	c.777C>T	c.(775-777)atC>atT	p.I259I	NPR3_ENST00000415685.2_Silent_p.I43I|NPR3_ENST00000434067.2_Silent_p.I43I|NPR3_ENST00000415167.2_Silent_p.I259I	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	259					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TAGTGGTGATCATGTGTGCGA	0.542000													24	71					0	0	0.014323	0	0
NUDT7	283927	broad.mit.edu	37	16	77775586	77775586	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:77775586C>T	ENST00000268533.5	+	4	525	c.456C>T	c.(454-456)ttC>ttT	p.F152F	NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000437314.3_Silent_p.F99F|NUDT7_ENST00000563839.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	152	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGGCCTATTTCCTGCATCCAC	0.458000													26	115					0	0	0.009535	0	0
RANBP17	64901	broad.mit.edu	37	5	170667965	170667965	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:170667965A>T	ENST00000523189.1	+	23	2620	c.2456A>T	c.(2455-2457)aAa>aTa	p.K819I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	819					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCCTCTCAAAAGATCAGATT	0.418000			T	TRD@	ALL								37	77					0	0	0.007835	0	0
OR2M2	391194	broad.mit.edu	37	1	248344012	248344012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248344012C>T	ENST00000359682.2	+	1	725	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	242					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)			ACGACCTGTTCCTCTCACCTC	0.493000													61	175					0	0	0.014410	0	0
VPS13D	55187	broad.mit.edu	37	1	12364674	12364674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12364674C>T	ENST00000358136.3	+	26	6458	c.6328C>T	c.(6328-6330)Ctt>Ttt	p.L2110F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L2110F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2110					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACGATGCCTCTTGCTGGAAT	0.567000													30	82					0	0	0.010818	0	0
NUTM1	256646	broad.mit.edu	37	15	34645943	34645943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34645943G>A	ENST00000537011.1	+	5	1327	c.945G>A	c.(943-945)atG>atA	p.M315I	NUTM1_ENST00000438749.3_Missense_Mutation_p.M305I|NUTM1_ENST00000333756.4_Missense_Mutation_p.M287I					NUT midline carcinoma, family member 1																		GCAGGTTCATGGAGTTTGAGG	0.517000													25	94					0	0	0.003330	0	0
CCDC63	160762	broad.mit.edu	37	12	111321970	111321970	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:111321970G>A	ENST00000308208.5	+	8	1232	c.990G>A	c.(988-990)gaG>gaA	p.E330E	CCDC63_ENST00000552694.1_Silent_p.E251E|CCDC63_ENST00000545036.1_Silent_p.E290E	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	330										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGGCCAAGGAGGAGAAGAATT	0.532000													29	105					0	0	0.008361	0	0
CNTN4	152330	broad.mit.edu	37	3	2944560	2944560	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:2944560G>A	ENST00000397461.1	+	11	1462	c.1077_splice	c.e11-1	p.D360_splice	CNTN4_ENST00000448906.2_Splice_Site_p.D32_splice|CNTN4_ENST00000427331.1_Splice_Site_p.D360_splice|CNTN4_ENST00000358480.3_Splice_Site_p.D141_splice|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Splice_Site_p.D32_splice|CNTN4_ENST00000418658.1_Splice_Site_p.D360_splice	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	360	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTTTCACAGGATAGAATTCA	0.358000													4	41					0	0	0.009096	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958789	16958789	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:16958789G>A	ENST00000412962.1	-	0	74																											AAGCTTCTCGGTGAGGTCCTT	0.607000													8	77					0	0	0.004482	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795908	100795908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:100795908G>A	ENST00000361529.3	+	6	931	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	SLC25A47_ENST00000557052.1_Missense_Mutation_p.A139T	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	285					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.A285T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TTGCTGCCGCGCCTTCCCTGT	0.652000													99	187					0	0	0.014410	0	0
FAM129B	64855	broad.mit.edu	37	9	130287345	130287345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:130287345G>A	ENST00000373312.3	-	4	626	c.413C>T	c.(412-414)tCc>tTc	p.S138F	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.S125F	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	138	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACCTGGTAAGGAGTTGCCAAT	0.602000													40	97					0	0	0.007835	0	0
TTF2	8458	broad.mit.edu	37	1	117618836	117618836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:117618836C>T	ENST00000369466.3	+	6	1354	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	437					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGGCTCTTCCAGACAAGGGT	0.448000													39	125					0	0	0.007835	0	0
MCTP1	79772	broad.mit.edu	37	5	94248644	94248644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:94248644C>T	ENST00000515393.1	-	9	1387	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	MCTP1_ENST00000505078.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.R196K|MCTP1_ENST00000312216.8_Missense_Mutation_p.R242K|MCTP1_ENST00000505208.1_Missense_Mutation_p.R242K	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	463	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATGCGATTTTCTGTGTAGGTC	0.438000													48	111					0	0	0.014410	0	0
HECW1	23072	broad.mit.edu	37	7	43484616	43484616	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:43484616G>A	ENST00000395891.1	+	11	2450	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	HECW1_ENST00000453890.1_Silent_p.E615E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	615					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCTGGAAGAGGACAGAGAAG	0.701000													7	24					0	0	0.001984	0	0
CDC27	996	broad.mit.edu	37	17	45234378	45234378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:45234378C>T	ENST00000066544.3	-	7	836	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CDC27_ENST00000531206.1_Missense_Mutation_p.G248E|CDC27_ENST00000527547.1_Missense_Mutation_p.G248E|CDC27_ENST00000446365.2_Missense_Mutation_p.G187E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|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	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGTTCCTGTTCCCAGTGGGAC	0.378000													7	133					0	0	0.008291	0	0
ZNF384	171017	broad.mit.edu	37	12	6782498	6782498	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6782498G>A	ENST00000396795.1	-	6	1292	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZNF384_ENST00000319770.3_Silent_p.F249F|ZNF384_ENST00000396799.2_Silent_p.F265F|ZNF384_ENST00000396801.3_Silent_p.F265F|ZNF384_ENST00000355772.4_Silent_p.F210F|ZNF384_ENST00000361959.3_Silent_p.F265F			Q8TF68	ZN384_HUMAN	zinc finger protein 384	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						AGCTGTTGGCGAAGGTCTTGG	0.547000			T	"""EWSR1, TAF15 """	ALL								26	85					0	0	0.003330	0	0
DHCR7	1717	broad.mit.edu	37	11	71155062	71155062	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:71155062A>T	ENST00000355527.3	-	4	574	c.298T>A	c.(298-300)Tat>Aat	p.Y100N	DHCR7_ENST00000407721.2_Missense_Mutation_p.Y100N	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	100					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CACAAGGTATAGAGCTGGGCG	0.627000									Smith-Lemli-Opitz syndrome				16	21					0	0	0.006122	0	0
TDRD7	23424	broad.mit.edu	37	9	100194369	100194369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:100194369C>T	ENST00000355295.4	+	4	707	c.412C>T	c.(412-414)Cct>Tct	p.P138S	TDRD7_ENST00000422139.2_Missense_Mutation_p.P64S	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	138					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGGCAAAAAACCTAATCCAGC	0.388000													23	76					0	0	0.002780	0	0
NTRK3	4916	broad.mit.edu	37	15	88522649	88522649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:88522649G>A	ENST00000317501.3	-	15	1927	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.S589F|NTRK3_ENST00000357724.2_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAGGCTTGGAATGTCCGGG	0.333000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			44	113					0	0	0.013114	0	0
KRT26	353288	broad.mit.edu	37	17	38928343	38928343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38928343C>T	ENST00000335552.4	-	1	71	c.23G>A	c.(22-24)gGa>gAa	p.G8E		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	8	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCTCCTGGATCCACCAGAAAG	0.577000													44	133					0	0	0.009718	0	0
ESRP2	80004	broad.mit.edu	37	16	68266285	68266285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:68266285G>A	ENST00000473183.2	-	8	1481	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	ESRP2_ENST00000565858.1_Missense_Mutation_p.R325C			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	325	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCAATATAGCGGACGCCCATG	0.622000													32	88					0	0	0.003755	0	0
SPEG	10290	broad.mit.edu	37	2	220342693	220342693	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220342693C>T	ENST00000312358.7	+	22	5025	c.4893C>T	c.(4891-4893)ttC>ttT	p.F1631F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1631	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGCCAAGTTCATCCCCAGCC	0.637000													90	195					0	0	0.014410	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726755	32726755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32726755G>A	ENST00000435145.2	-	3	579	c.518C>T	c.(517-519)tCc>tTc	p.S173F	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.S173F|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.S173F			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	173					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTAATGAGGGAGGTGGACAC	0.547000													40	82					0	0	0.009718	0	0
MSH4	4438	broad.mit.edu	37	1	76355016	76355016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:76355016G>A	ENST00000263187.3	+	16	2292	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	730					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGATGATATCGAAACAAATTC	0.289000								Mismatch excision repair (MMR)					35	103					0	0	0.004289	0	0
TIMD4	91937	broad.mit.edu	37	5	156381661	156381661	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:156381661C>T	ENST00000274532.2	-	2	221	c.165G>A	c.(163-165)ggG>ggA	p.G55G	TIMD4_ENST00000407087.3_Silent_p.G55G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	55	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGGTCTTTCCCCCAGCACA	0.532000													58	85					0	0	0.014410	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	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				26	55					0	0	0.005443	0	0
FRYL	285527	broad.mit.edu	37	4	48584556	48584556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:48584556C>T	ENST00000358350.4	-	20	2548	c.1944G>A	c.(1942-1944)tgG>tgA	p.W648*	FRYL_ENST00000507711.1_Nonsense_Mutation_p.W648*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Nonsense_Mutation_p.W354*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.W648*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W648*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCTTGTTTCCACTGATTTA	0.358000													8	35					0	0	0.003080	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1846599	1846599	+	Splice_Site	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:1846599C>A	ENST00000349830.3	+	15	1743	c.1557_splice	c.e15-1	p.Q520_splice	ARHGEF10_ENST00000520359.1_Splice_Site_p.Q482_splice|ARHGEF10_ENST00000398564.1_Splice_Site_p.Q545_splice|ARHGEF10_ENST00000262112.6_Splice_Site_p.Q545_splice|ARHGEF10_ENST00000398560.1_Splice_Site_p.Q506_splice|ARHGEF10_ENST00000518288.1_Intron	NM_014629.2	NP_055444.2	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	545	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCCCCCACAGCAGGAACAGGA	0.642000													10	56					3.86212e-05	3.9193e-05	0.008291	1	0
IGDCC3	9543	broad.mit.edu	37	15	65621280	65621280	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:65621280G>A	ENST00000327987.4	-	14	2663	c.2412C>T	c.(2410-2412)gcC>gcT	p.A804A		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	804										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGTAACCCGGGCCGCTGCAG	0.677000													34	86					0	0	0.003271	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075452	100075452	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100075452G>A	ENST00000300181.2	-	2	964	c.210C>T	c.(208-210)tcC>tcT	p.S70S	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	70					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCGGAAACGGGAGGAAGGGG	0.716000													6	23					0	0	0.001168	0	0
OR10G3	26533	broad.mit.edu	37	14	22038384	22038384	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22038384G>A	ENST00000303532.1	-	1	491	c.492C>T	c.(490-492)acC>acT	p.T164T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCAGGCGGAAGGTTAGGATGG	0.577000													46	138					0	0	0.013114	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320946	128320946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:128320946C>T	ENST00000262462.4	+	2	1612	c.602C>T	c.(601-603)cCt>cTt	p.P201L	SLC27A6_ENST00000395266.1_Missense_Mutation_p.P201L|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P201L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	201					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCACCTCACCTGATGAGCCC	0.433000													21	31					0	0	0.008871	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866990	140866990	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140866990C>T	ENST00000306593.1	+	1	2250	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGATCCTCCGAATCCAGC	0.572000													29	60					0	0	0.006320	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025848	102025848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:102025848G>A	ENST00000549145.1	+	7	552	c.452G>A	c.(451-453)gGa>gAa	p.G151E	MYBPC1_ENST00000547509.1_Missense_Mutation_p.G124E|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G112E|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G126E|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G163E|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G163E|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G39E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G125E			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	138					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AACTTTGCAGGAAATTACAGA	0.383000													46	108					0	0	0.014410	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796735	93796735	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:93796735G>A	ENST00000315765.9	+	3	485	c.477G>A	c.(475-477)ggG>ggA	p.G159G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	159	Plastocyanin-like 1.				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)				TTCCTCCTGGGAAAAACTACA	0.458000													8	8					0	0	0.003080	0	0
FAM208B	54906	broad.mit.edu	37	10	5772729	5772729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:5772729C>T	ENST00000328090.5	+	11	1392	c.767C>T	c.(766-768)tCt>tTt	p.S256F	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	256																	CCTTCAGAGTCTTTAACTCAG	0.443000													53	89					0	0	0.014410	0	0
FAM89A	375061	broad.mit.edu	37	1	231155615	231155615	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:231155615G>A	ENST00000366654.4	-	2	583	c.549C>T	c.(547-549)tcC>tcT	p.S183S	MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	183										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCCTCTAGATGGACTCCAGAA	0.577000													22	35					0	0	0.014323	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558177	140558177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140558177G>A	ENST00000239444.2	+	1	807	c.562G>A	c.(562-564)Gat>Aat	p.D188N		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		188	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAACGCAGTGATGGCAGGAA	0.493000													36	236					0	0	0.009718	0	0
AGAP2	116986	broad.mit.edu	37	12	58125379	58125379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:58125379C>T	ENST00000257897.3	-	9	1077	c.992G>A	c.(991-993)gGa>gAa	p.G331E	AGAP2_ENST00000547588.1_Missense_Mutation_p.G667E	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	667	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGTTGTCTCTCCCCGACTATC	0.532000													27	81					0	0	0.006320	0	0
CADPS	8618	broad.mit.edu	37	3	62501818	62501818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:62501818C>T	ENST00000383710.4	-	16	2846	c.2497G>A	c.(2497-2499)Gag>Aag	p.E833K	CADPS_ENST00000357948.3_Missense_Mutation_p.E816K|CADPS_ENST00000283269.9_Missense_Mutation_p.E833K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	833	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTTTTTACCTCCTCTTGTGGC	0.418000													24	84					0	0	0.003954	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697069	48697069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48697069C>T	ENST00000354983.4	+	32	6077	c.5705C>T	c.(5704-5706)tCc>tTc	p.S1902F	CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1918F|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1891F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1925F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1925F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1936F|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1936F|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1902F|CACNA1G_ENST00000502264.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1936					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACACCATATCCCTGCTGATC	0.662000													14	28					0	0	0.003163	0	0
RYR1	6261	broad.mit.edu	37	19	38934370	38934370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:38934370C>T	ENST00000355481.4	+	5	489	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	RYR1_ENST00000360985.3_Missense_Mutation_p.L120F|RYR1_ENST00000359596.3_Missense_Mutation_p.L120F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	120	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTGAGCTGCCTCACCACCTC	0.632000													31	75					0	0	0.003271	0	0
IGSF1	3547	broad.mit.edu	37	X	130409177	130409177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:130409177C>T	ENST00000370904.1	-	23	4151	c.3241G>A	c.(3241-3243)Gaa>Aaa	p.E1081K	IGSF1_ENST00000370910.1_Missense_Mutation_p.E1081K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E1095K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E1090K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1090	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTGGCAGTTCCCCTTGACAC	0.547000													100	154					0	0	0.014410	0	0
CELSR1	9620	broad.mit.edu	37	22	46859931	46859931	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:46859931G>A	ENST00000262738.3	-	2	3855	c.3856C>T	c.(3856-3858)Ctg>Ttg	p.L1286L	CELSR1_ENST00000395964.1_Silent_p.L1286L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1286					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)		GTCCGATTCAGGTAGATCTGC	0.632000													88	122					0	0	0.014410	0	0
GABRB2	2561	broad.mit.edu	37	5	160886667	160886667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:160886667G>A	ENST00000274547.2	-	5	638	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	GABRB2_ENST00000353437.6_Missense_Mutation_p.R141C|GABRB2_ENST00000393959.1_Missense_Mutation_p.R141C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R78C|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Missense_Mutation_p.R141C	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.R141C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGATGCAGGCGAATCATGCGG	0.448000													8	33					0	0	0.004482	0	0
STPG2	285555	broad.mit.edu	37	4	98480257	98480257	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:98480257C>T	ENST00000295268.3	-	11	1421	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		CTTTCTTTTTCTCCTGGGATA	0.269000													36	71					0	0	0.005524	0	0
MIR520B	574473	broad.mit.edu	37	19	54204530	54204530	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54204530C>T	ENST00000384989.1	+	0	50					NR_030195.1																						GAAAGTGCTTCCTTTTAGAGG	0.428000													19	33					0	0	0.007413	0	0
ZNF98	148198	broad.mit.edu	37	19	22574340	22574340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22574340C>T	ENST00000357774.5	-	4	1818	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R566I(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGCACAATTTCTTTTATATTT	0.328000													11	9					0	0	0.010729	0	0
DDX46	9879	broad.mit.edu	37	5	134102613	134102613	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:134102613C>T	ENST00000452510.2	+	3	371	c.213C>T	c.(211-213)tcC>tcT	p.S71S	DDX46_ENST00000354283.4_Silent_p.S71S	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	71	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAGACGTTCCAGAAGTAGAG	0.478000													17	20					0	0	0.006122	0	0
TOM1	10043	broad.mit.edu	37	22	35728996	35728996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:35728996C>T	ENST00000411850.1	+	9	1047	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	TOM1_ENST00000447733.1_Nonsense_Mutation_p.Q275*|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000436462.2_Nonsense_Mutation_p.Q270*|TOM1_ENST00000425375.1_Nonsense_Mutation_p.Q263*|TOM1_ENST00000449058.2_Nonsense_Mutation_p.Q308*	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	308					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGAACAGGCCAGACCACCAA	0.507000													89	238					0	0	0.014410	0	0
CCNF	899	broad.mit.edu	37	16	2495514	2495514	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:2495514C>T	ENST00000397066.4	+	10	1073	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	329	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTTCACAAGCCTGTGCCTGCA	0.607000													45	89					0	0	0.014410	0	0
RAG1	5896	broad.mit.edu	37	11	36594964	36594964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:36594964C>T	ENST00000299440.5	+	2	222	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	37	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CGGGTGAGATCCTTTGAAAAG	0.458000									Familial Hemophagocytic Lymphohistiocytosis				24	64					0	0	0.003954	0	0
FGD2	221472	broad.mit.edu	37	6	36990057	36990057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:36990057C>T	ENST00000274963.8	+	13	1540	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	457					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCAGTGGGTCCGGGACAAGAT	0.652000											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0	0	0.004482	0	0
AMHR2	269	broad.mit.edu	37	12	53818100	53818100	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53818100C>T	ENST00000257863.4	+	2	158	c.78C>T	c.(76-78)ttC>ttT	p.F26F	AMHR2_ENST00000379791.3_Silent_p.F26F|AMHR2_ENST00000550311.1_Silent_p.F26F	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	26					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTGTGTGTTCTTTGAGGCCC	0.567000													23	70					0	0	0.014323	0	0
CADPS	8618	broad.mit.edu	37	3	62501819	62501819	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:62501819C>T	ENST00000383710.4	-	16	2845	c.2496G>A	c.(2494-2496)gaG>gaA	p.E832E	CADPS_ENST00000357948.3_Silent_p.E815E|CADPS_ENST00000283269.9_Silent_p.E832E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	832	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTTTTACCTCCTCTTGTGGCA	0.418000													23	85					0	0	0.003330	0	0
FAM129C	199786	broad.mit.edu	37	19	17662690	17662690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17662690G>A	ENST00000332386.5	+	16	2077	c.1939G>A	c.(1939-1941)Gga>Aga	p.G647R	FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000600871.1_Missense_Mutation_p.G565R|FAM129C_ENST00000599164.1_Missense_Mutation_p.G616R|FAM129C_ENST00000335393.4_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.G580R|FAM129C_ENST00000352727.3_Missense_Mutation_p.G611R|FAM129C_ENST00000449408.2_Intron	NM_001098524.1	NP_001091994.1	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	0										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						GCCTTCTCCAGgaacattccg	0.517000													22	91					0	0	0.003330	0	0
CNNM4	26504	broad.mit.edu	37	2	97427280	97427280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:97427280C>T	ENST00000377075.2	+	1	642	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	182					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.L182V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTTCCTGCCTCTCTGGCTGCA	0.622000													169	387					0	0	0.014410	0	0
FRYL	285527	broad.mit.edu	37	4	48604129	48604129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:48604129G>A	ENST00000358350.4	-	13	1547	c.943C>T	c.(943-945)Cca>Tca	p.P315S	FRYL_ENST00000507711.1_Missense_Mutation_p.P315S|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.P21S|FRYL_ENST00000503238.1_Missense_Mutation_p.P315S|FRYL_ENST00000537810.1_Missense_Mutation_p.P315S	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTAATTAGTGGATATAAAGCC	0.303000													24	34					0	0	0.003954	0	0
TTLL10	254173	broad.mit.edu	37	1	1115637	1115637	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1115637C>T	ENST00000379290.1	+	6	596	c.423C>T	c.(421-423)ctC>ctT	p.L141L	TTLL10_ENST00000379288.3_Silent_p.L68L|TTLL10_ENST00000379289.1_Silent_p.L141L			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	141					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGAGGGGCTCCTGCTGGGGG	0.697000													4	20					0	0	0.009096	0	0
ZNF622	90441	broad.mit.edu	37	5	16463741	16463741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:16463741G>A	ENST00000308683.2	-	2	862	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	246						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATGGCACCAAGGGGTGGGCCT	0.478000													121	296					0	0	0.014410	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48605597	48605597	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48605597G>A	ENST00000323776.5	+	16	2664	c.2502G>A	c.(2500-2502)aaG>aaA	p.K834K	MYCBPAP_ENST00000436259.2_Silent_p.K797K	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	797					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGCCTGAGAAGGAGACCATCT	0.532000													9	44					0	0	0.006214	0	0
SGMS1	259230	broad.mit.edu	37	10	52067844	52067844	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:52067844G>A	ENST00000361781.2	-	10	1919	c.960C>T	c.(958-960)ttC>ttT	p.F320F	SGMS1_ENST00000429490.1_Silent_p.F151F	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	326					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGAGAATACAGAAGATTCCAA	0.488000													25	41					0	0	0.004656	0	0
EYA1	2138	broad.mit.edu	37	8	72127655	72127655	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:72127655G>C	ENST00000340726.3	-	16	2203	c.1564C>G	c.(1564-1566)Cca>Gca	p.P522A	EYA1_ENST00000303824.7_Missense_Mutation_p.P516A|EYA1_ENST00000419131.1_Missense_Mutation_p.P487A|EYA1_ENST00000388741.2_Missense_Mutation_p.P488A|EYA1_ENST00000388742.4_Missense_Mutation_p.P522A|EYA1_ENST00000388743.2_Missense_Mutation_p.P521A|EYA1_ENST00000388740.3_Missense_Mutation_p.P489A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	522					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTTTCTATTGGAAATACAATT	0.353000													17	67					0	0	0.004990	0	0
COL8A2	1296	broad.mit.edu	37	1	36564614	36564614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:36564614C>T	ENST00000397799.1	-	4	892	c.668G>A	c.(667-669)gGt>gAt	p.G223D	COL8A2_ENST00000303143.4_Missense_Mutation_p.G223D|COL8A2_ENST00000481785.1_Missense_Mutation_p.G158D			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	223	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCGGGGGCACCCCCCTGCCC	0.726000													14	27					0	0	0.004990	0	0
PARVA	55742	broad.mit.edu	37	11	12535050	12535050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:12535050C>T	ENST00000538608.1	+	9	918	c.782C>T	c.(781-783)cCa>cTa	p.P261L	PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000334956.8_Intron			Q9NVD7	PARVA_HUMAN	parvin, alpha	0					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		TCCCCCTTGCCATCCATGTAC	0.557000													10	12					0	0	0.006214	0	0
LRP1	4035	broad.mit.edu	37	12	57572248	57572248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57572248G>A	ENST00000243077.3	+	27	4934	c.4468G>A	c.(4468-4470)Gag>Aag	p.E1490K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1490					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTACGGGGGGGAGGTCTACTG	0.592000													36	130					0	0	0.004289	0	0
ZNF823	55552	broad.mit.edu	37	19	11833694	11833694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:11833694G>A	ENST00000341191.6	-	4	808	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S	ZNF823_ENST00000545749.1_Missense_Mutation_p.P37S	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CATTCATACGGTTTCTCTCCA	0.403000										HNSCC(68;0.2)			61	164					0	0	0.014410	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273956	10273956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:10273956C>T	ENST00000396573.2	-	3	622	c.313G>A	c.(313-315)Gac>Aac	p.D105N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.D105N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D105N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D105N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D105N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	105					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCTCCTGGTCCGTGTCGTCC	0.597000													29	148					0	0	0.007291	0	0
HSD11B1	3290	broad.mit.edu	37	1	209878363	209878363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:209878363G>A	ENST00000367028.2	+	2	245	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	HSD11B1_ENST00000261465.1_Missense_Mutation_p.E26K|HSD11B1_ENST00000367027.3_Missense_Mutation_p.E26K|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	26					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TGCAAACGAGGAATTCAGACC	0.463000													51	82					0	0	0.014410	0	0
NXNL1	115861	broad.mit.edu	37	19	17571610	17571610	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17571610C>T	ENST00000301944.2	-	1	153	c.69G>A	c.(67-69)gaG>gaA	p.E23E	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	23	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						TGACCTCAGCCTCCGTATCCA	0.622000													98	151					0	0	0.014410	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662505	662505	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:662505C>T	ENST00000266383.5	+	14	1429	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	472						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACTACCGCCTCCGAAGCCTGC	0.637000													58	207					0	0	0.014410	0	0
WARS2	10352	broad.mit.edu	37	1	119575560	119575560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:119575560C>T	ENST00000235521.4	-	6	1083	c.1057G>A	c.(1057-1059)Gtg>Atg	p.V353M	WARS2_ENST00000537870.1_Missense_Mutation_p.V259M|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	353					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AATTTCTTCACCTCCTGGCAC	0.408000													95	95					0	0	0.014410	0	0
TACC2	10579	broad.mit.edu	37	10	123989947	123989947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:123989947G>A	ENST00000369005.1	+	16	8459	c.8119G>A	c.(8119-8121)Gat>Aat	p.D2707N	TACC2_ENST00000358010.1_Missense_Mutation_p.D853N|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.D797N|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.D853N|TACC2_ENST00000260733.3_Missense_Mutation_p.D785N|TACC2_ENST00000334433.3_Missense_Mutation_p.D2707N|TACC2_ENST00000369004.3_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2707						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCCACCAGGATGCCAAGGT	0.602000													49	65					0	0	0.014410	0	0
CHCHD1	118487	broad.mit.edu	37	10	75541846	75541846	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:75541846A>G	ENST00000372837.3	+	1	42	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	CHCHD1_ENST00000372833.5_Missense_Mutation_p.S5G			Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	5						nucleus				breast(1)	1	Prostate(51;0.0112)					GGCGACACCCAGCCTGCGGGG	0.677000													51	90					0	0	0.014410	0	0
INTS1	26173	broad.mit.edu	37	7	1535815	1535815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:1535815G>A	ENST00000389470.4	-	13	2071	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	INTS1_ENST00000404767.3_Missense_Mutation_p.A563V			Q8N201	INT1_HUMAN	integrator complex subunit 1	563					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTTGTCCCAGGCGATGCCGGC	0.657000													31	77					0	0	0.013726	0	0
CORIN	10699	broad.mit.edu	37	4	47625936	47625936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:47625936G>A	ENST00000273857.4	-	18	2344	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F	CORIN_ENST00000508498.1_Missense_Mutation_p.S643F|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.S715F|CORIN_ENST00000505909.1_Missense_Mutation_p.S745F	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	782	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACACAGAAGAGAAATTTTACT	0.368000													23	49					0	0	0.004656	0	0
ADAP1	11033	broad.mit.edu	37	7	959629	959629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:959629C>T	ENST00000265846.5	-	4	583	c.364G>A	c.(364-366)Gag>Aag	p.E122K	ADAP1_ENST00000449296.2_Missense_Mutation_p.E50K|ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Missense_Mutation_p.E133K	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	122	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						TCCTGCTTCTCCGGGTAGATG	0.667000													8	36					0	0	0.004482	0	0
USP49	25862	broad.mit.edu	37	6	41774066	41774066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:41774066G>A	ENST00000394253.3	-	3	985	c.656C>T	c.(655-657)gCg>gTg	p.A219V	USP49_ENST00000373009.3_Missense_Mutation_p.A219V|USP49_ENST00000297229.2_Missense_Mutation_p.A219V|USP49_ENST00000373006.1_Missense_Mutation_p.A219V|USP49_ENST00000373010.1_Missense_Mutation_p.A219V			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	219					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			agccgggcccgcgtcgcgggg	0.766000													9	24					0	0	0.004482	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552747	140552747	+	Missense_Mutation	SNP	G	G	A	rs76427364		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140552747G>A	ENST00000231137.3	+	1	505	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		111	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGTTATTGGAAAAACCTTT	0.433000													70	88					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13871743	13871743	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13871743G>A	ENST00000265104.4	-	23	3632	c.3528C>T	c.(3526-3528)ttC>ttT	p.F1176F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1176	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1174fs*8(1)		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)					CTAGGTTTTGGAAATAGAGAA	0.383000									Kartagener syndrome				14	39					0	0	0.003163	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317122	38317122	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38317122C>T	ENST00000311856.4	+	6	1030	c.981C>T	c.(979-981)caC>caT	p.H327H	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	327						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGTTCAGACACCCCCAGCTCC	0.592000													39	77					0	0	0.008740	0	0
FREM1	158326	broad.mit.edu	37	9	14748411	14748411	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:14748411C>T	ENST00000380881.4	-	32	6602	c.5787G>A	c.(5785-5787)ggG>ggA	p.G1929G	FREM1_ENST00000422223.2_Silent_p.G1928G|FREM1_ENST00000380894.1_Silent_p.G464G|FREM1_ENST00000380880.3_Silent_p.G1928G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1928					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTTGCCATTCCCACGGGTCC	0.438000													10	25					0	0	0.006214	0	0
SALL2	6297	broad.mit.edu	37	14	21993631	21993631	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21993631G>A	ENST00000327430.3	-	2	525	c.231C>T	c.(229-231)gcC>gcT	p.A77A	SALL2_ENST00000538754.1_Silent_p.A75A|SALL2_ENST00000450879.2_Silent_p.A75A|SALL2_ENST00000317492.5_Silent_p.A77A	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	77							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTTCAGAGGAGGCCGAAGAGT	0.567000													58	118					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179447831	179447831	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179447831T>C	ENST00000589042.1	-	313	65923	c.65699A>G	c.(65698-65700)gAt>gGt	p.D21900G	TTN_ENST00000591111.1_Missense_Mutation_p.D20259G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D12835G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12960G|TTN_ENST00000342992.6_Missense_Mutation_p.D19332G|TTN_ENST00000342175.6_Missense_Mutation_p.D13027G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20259	Fibronectin type-III 59.						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)			CAGTGTGCCATCTTTTTTCCA	0.463000													3	16					0	0	0.000602	0	0
MAGEA5	4104	broad.mit.edu	37	X	151284172	151284172	+	RNA	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151284172T>A	ENST00000509345.2	-	0	239																											CCTTTGGTGCTCCTCTAGGGC	0.537000													17	35					0	0	0.006122	0	0
CNOT1	23019	broad.mit.edu	37	16	58555201	58555201	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:58555201A>G	ENST00000317147.5	-	48	7270	c.6938T>C	c.(6937-6939)aTt>aCt	p.I2313T	CNOT1_ENST00000245138.4_Missense_Mutation_p.I1164T|CNOT1_ENST00000569240.1_Missense_Mutation_p.I2308T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2313					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTATTTACAATCAACCGTTC	0.368000													51	110					0	0	0.014410	0	0
OR13C8	138802	broad.mit.edu	37	9	107331532	107331532	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107331532C>T	ENST00000335040.1	+	1	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAGTTTTCTTCGTTCTAATTT	0.428000													71	226					0	0	0.014410	0	0
PCSK5	5125	broad.mit.edu	37	9	78784740	78784740	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:78784740G>A	ENST00000545128.1	+	13	2278	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	PCSK5_ENST00000376767.3_Silent_p.R580R|PCSK5_ENST00000376752.4_Silent_p.R580R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	580	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCAGCTAAGGAACTTTAAGA	0.423000													20	82					0	0	0.002780	0	0
ATP13A5	344905	broad.mit.edu	37	3	193040314	193040314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:193040314G>A	ENST00000342358.4	-	15	1841	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	575					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TATGATGTTTGAAACTGACGT	0.323000													79	106					0	0	0.014410	0	0
CCDC63	160762	broad.mit.edu	37	12	111317782	111317782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:111317782G>A	ENST00000308208.5	+	6	804	c.562G>A	c.(562-564)Gag>Aag	p.E188K	CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000552694.1_Missense_Mutation_p.E109K|CCDC63_ENST00000545036.1_Missense_Mutation_p.E148K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	188										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCTACGATTTGAGAAGGCTGC	0.473000													71	186					0	0	0.014410	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885236	24885236	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24885236C>T	ENST00000382554.3	+	9	4599	c.4281C>T	c.(4279-4281)atC>atT	p.I1427I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1427					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TTCCGTTTATCTACCGAACCT	0.602000													56	135					0	0	0.014410	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878429	24878429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24878429C>T	ENST00000382554.3	+	4	1747	c.1429C>T	c.(1429-1431)Cca>Tca	p.P477S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	477					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCGGATCTCCCACAGATAGG	0.512000													13	53					0	0	0.001855	0	0
TMEM159	57146	broad.mit.edu	37	16	21172581	21172581	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21172581C>T	ENST00000233047.4	+	2	546	c.78C>T	c.(76-78)tcC>tcT	p.S26S	TMEM159_ENST00000451578.2_Silent_p.S26S|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572599.1_Silent_p.S26S|TMEM159_ENST00000261388.3_Silent_p.S26S|TMEM159_ENST00000572258.1_Silent_p.S26S			Q96B96	TM159_HUMAN	transmembrane protein 159	26						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TGATAGACTCCTTCCAGAATA	0.398000													11	76					0	0	0.008291	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:71275418C>T	ENST00000399575.2	+	3	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000													52	151					0	0	0.014410	0	0
GABRE	2564	broad.mit.edu	37	X	151128445	151128445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151128445G>A	ENST00000370325.1	-	6	703	c.650C>T	c.(649-651)tCc>tTc	p.S217F	GABRE_ENST00000393914.3_Missense_Mutation_p.S24F|GABRE_ENST00000370328.3_Missense_Mutation_p.S217F			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGATAGGAAACTGGAAA	0.443000													34	76					0	0	0.006230	0	0
RP1	6101	broad.mit.edu	37	8	55538174	55538174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:55538174G>A	ENST00000220676.1	+	4	1880	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	578					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTGTGGAGGAAGATGTAGT	0.343000													26	110					0	0	0.005443	0	0
AIM2	9447	broad.mit.edu	37	1	159035904	159035904	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159035904C>T	ENST00000368130.4	-	4	900	c.612G>A	c.(610-612)aaG>aaA	p.K204K	AIM2_ENST00000481829.1_Intron	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	204	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TAATTATTCTCTTTGGAATGA	0.358000													69	105					0	0	0.014410	0	0
MID2	11043	broad.mit.edu	37	X	107170186	107170186	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:107170186C>T	ENST00000262843.6	+	10	2639	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Silent_p.S667S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	697	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GGAACAAATCCCTAATGATCC	0.448000													29	40					0	0	0.009535	0	0
RGPD4	285190	broad.mit.edu	37	2	108487311	108487311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:108487311G>A	ENST00000408999.3	+	20	2928	c.2851G>A	c.(2851-2853)Gat>Aat	p.D951N	RGPD4_ENST00000354986.4_Missense_Mutation_p.D951N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	951					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCAGGCTCAGGATATTAGTGG	0.408000													43	121					0	0	0.014410	0	0
BAZ1A	11177	broad.mit.edu	37	14	35234256	35234256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:35234256G>A	ENST00000360310.1	-	22	4087	c.3520C>T	c.(3520-3522)Cat>Tat	p.H1174Y	BAZ1A_ENST00000358716.4_Missense_Mutation_p.H1142Y|BAZ1A_ENST00000382422.2_Missense_Mutation_p.H1174Y	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1174					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAGTAGGTATGATGACCCCTA	0.363000													21	58					0	0	0.010504	0	0
DNAH17	8632	broad.mit.edu	37	17	76528663	76528663	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:76528663G>A	ENST00000389840.5	-	20	3139	c.3015C>T	c.(3013-3015)ttC>ttT	p.F1005F	DNAH17_ENST00000585328.1_Silent_p.F1002F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATATATCAGGAAATTCTTCA	0.542000													12	26					0	0	0.001855	0	0
TYW1B	441250	broad.mit.edu	37	7	72081675	72081675	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:72081675G>A	ENST00000438125.1	-	0	1380							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGCTATCAGGAGGCAATTAG	0.448000													22	139					0	0	0.002780	0	0
GAS2	2620	broad.mit.edu	37	11	22707215	22707215	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:22707215G>A	ENST00000454584.2	+	3	452	c.145_splice	c.e3-1	p.G49_splice	GAS2_ENST00000278187.3_Splice_Site_p.G49_splice|GAS2_ENST00000433790.1_Splice_Site_p.G49_splice|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	49	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTATTTCAGGGAAGGAGATTA	0.343000													14	66					0	0	0.004990	0	0
DDX60L	91351	broad.mit.edu	37	4	169300898	169300898	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:169300898G>A	ENST00000511577.1	-	31	4447	c.4200C>T	c.(4198-4200)tcC>tcT	p.S1400S	DDX60L_ENST00000260184.7_Silent_p.S1400S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1400							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGAGCTGCAAGGAAAACAAAA	0.368000													7	39					0	0	0.001984	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001168	121001168	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:121001168C>T	ENST00000273666.6	+	20	2437	c.2166C>T	c.(2164-2166)atC>atT	p.I722I	STXBP5L_ENST00000492541.1_Silent_p.I722I|STXBP5L_ENST00000497029.1_Silent_p.I722I|STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000471454.1_Intron	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	722					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGAAACGGATCCGTACTTCCT	0.403000													9	35					0	0	0.008291	0	0
PKNOX2	63876	broad.mit.edu	37	11	125237848	125237848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:125237848C>T	ENST00000298282.9	+	5	465	c.194C>T	c.(193-195)gCc>gTc	p.A65V	PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	65						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GACCCCCAGGCCCAGCTGGAG	0.637000													15	47					0	0	0.004990	0	0
RRP1B	23076	broad.mit.edu	37	21	45096182	45096182	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45096182C>T	ENST00000340648.4	+	7	696	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	193					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TCAAGTTTATCGATCCATTCT	0.438000													57	115					0	0	0.014410	0	0
KCND3	3752	broad.mit.edu	37	1	112525136	112525136	+	Silent	SNP	C	C	T	rs74392775		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:112525136C>T	ENST00000369697.1	-	1	282	c.213G>A	c.(211-213)aaG>aaA	p.K71K	KCND3_ENST00000302127.4_Silent_p.K71K|KCND3_ENST00000315987.2_Silent_p.K71K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	71						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGAAGAACTCCTTCTCCGTGC	0.607000													98	97					0	0	0.014410	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554476	20554476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20554476C>T	ENST00000329697.6	-	11	1558	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D385N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	464					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.D464N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAATGATATCATCTGCCCGT	0.507000													32	475					0	0	0.004878	0	0
COL6A3	1293	broad.mit.edu	37	2	238280629	238280629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:238280629G>A	ENST00000295550.4	-	9	4483	c.4031C>T	c.(4030-4032)tCg>tTg	p.S1344L	COL6A3_ENST00000353578.4_Missense_Mutation_p.S1138L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1144L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1138L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S737L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1143L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S937L|COL6A3_ENST00000392004.3_Missense_Mutation_p.S1138L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1344	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTTCCAGACGAGATGAGGAC	0.612000													33	49					0	0	0.012213	0	0
UBR1	197131	broad.mit.edu	37	15	43339380	43339380	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43339380G>A	ENST00000290650.4	-	14	1725	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	UBR1_ENST00000382177.2_Silent_p.F549F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	549					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCACTCTTGGAACATGAGTA	0.363000													68	179					0	0	0.014410	0	0
SEPT2	4735	broad.mit.edu	37	2	242265433	242265433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242265433C>T	ENST00000391973.2	+	3	563	c.35C>T	c.(34-36)cCa>cTa	p.P12L	SEPT2_ENST00000360051.3_Missense_Mutation_p.P12L|SEPT2_ENST00000401990.1_Missense_Mutation_p.P12L|SEPT2_ENST00000402092.2_Missense_Mutation_p.P12L|SEPT2_ENST00000391971.2_Missense_Mutation_p.P12L|SEPT2_ENST00000407971.1_5'UTR	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	12					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTTATAAATCCAGAAACACCT	0.353000													33	63					0	0	0.013726	0	0
COL2A1	1280	broad.mit.edu	37	12	48393853	48393853	+	Nonsense_Mutation	SNP	C	C	T	rs121912896		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:48393853C>T	ENST00000380518.3	-	2	305	c.141G>A	c.(139-141)tgG>tgA	p.W47*	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	47	VWFC.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCTCCGGCTTCCACACATCCT	0.572000													28	66					0	0	0.009535	0	0
PPP2R3B	28227	broad.mit.edu	37	X	302650	302650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:302650C>T	ENST00000390665.3	-	8	1071	c.1053G>A	c.(1051-1053)atG>atA	p.M351I		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	351					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				TCCTGTCTATCATCTTGGTAG	0.647000													68	113					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179644017	179644017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179644017C>T	ENST00000589042.1	-	23	4126	c.3902G>A	c.(3901-3903)aGa>aAa	p.R1301K	TTN_ENST00000591111.1_Missense_Mutation_p.R1301K|TTN_ENST00000460472.2_Missense_Mutation_p.R1255K|TTN_ENST00000360870.5_Missense_Mutation_p.R1301K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1255K|TTN_ENST00000342992.6_Missense_Mutation_p.R1301K|TTN_ENST00000342175.6_Missense_Mutation_p.R1255K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1301	Ig-like 5.						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)			CTCAAGAATTCTATAATTCTT	0.358000													8	41					0	0	0.004482	0	0
OR6S1	341799	broad.mit.edu	37	14	21109809	21109809	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21109809G>A	ENST00000320704.3	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453000													75	188					0	0	0.014410	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645393	122645393	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122645393C>A	ENST00000195173.4	-	9	1285	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	SEMA5B_ENST00000357599.3_Missense_Mutation_p.G328C|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G382C			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	328	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.G328S(1)|p.G382S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGAATCGGCCCCCCACGTCA	0.612000													15	63					0.000422831	0.000428711	0.004007	1	0
MEPE	56955	broad.mit.edu	37	4	88766263	88766263	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:88766263G>A	ENST00000497649.2	+	6	549	c.171G>A	c.(169-171)aaG>aaA	p.K57K	MEPE_ENST00000395102.4_Silent_p.K112K|MEPE_ENST00000361056.3_Silent_p.K81K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000424957.3_Silent_p.K81K|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000511670.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	81					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTGAGAATAAGGGAAGTAGTA	0.338000													10	35					0	0	0.008291	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014041	75014041	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75014041G>A	ENST00000379727.3	-	3	1041	c.843C>T	c.(841-843)atC>atT	p.I281I	CYP1A1_ENST00000564596.1_Silent_p.I20I|CYP1A1_ENST00000395049.4_Silent_p.I281I|CYP1A1_ENST00000395048.2_Silent_p.I281I|CYP1A1_ENST00000567032.1_Silent_p.I281I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	281					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGCTGTCTGTGATGTCCCGGA	0.512000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				41	120					0	0	0.014410	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44430653	44430653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:44430653C>T	ENST00000372622.3	+	7	582	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	172						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGACGGCCTCCTGGACACAT	0.602000													42	124					0	0	0.013114	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963128	88963128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:88963128G>A	ENST00000333190.4	+	4	1441	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	278						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCTTACCAAGGAAAAAGAGGT	0.358000										HNSCC(36;0.09)			9	33					0	0	0.006214	0	0
DMBT1	1755	broad.mit.edu	37	10	124380843	124380843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:124380843G>A	ENST00000338354.3	+	41	5274	c.5168G>A	c.(5167-5169)gGc>gAc	p.G1723D	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1095D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1723D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1095D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1713D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1713D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1723	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCACAAAGGCTGGCTCACC	0.602000													70	91					0	0	0.014410	0	0
CD96	10225	broad.mit.edu	37	3	111263947	111263947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:111263947C>T	ENST00000352690.4	+	2	356	c.116C>T	c.(115-117)tCt>tTt	p.S39F	CD96_ENST00000283285.5_Missense_Mutation_p.S39F|CD96_ENST00000438817.2_Missense_Mutation_p.S39F	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	39	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACACTTGGCTCTGATGTCAAC	0.403000									Opitz Trigonocephaly syndrome				72	92					0	0	0.014410	0	0
ITIH2	3698	broad.mit.edu	37	10	7745461	7745461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:7745461C>T	ENST00000358415.4	+	1	230	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	ITIH2_ENST00000379587.4_Missense_Mutation_p.P22S|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	22					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTCGAAATCCCCATAAATGG	0.408000													21	44					0	0	0.003330	0	0
NLRP11	204801	broad.mit.edu	37	19	56329292	56329292	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56329292C>T	ENST00000443188.1	-	4	959	c.249G>A	c.(247-249)agG>agA	p.R83R	NLRP11_ENST00000360133.3_Silent_p.R83R|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Silent_p.R83R|NLRP11_ENST00000589093.1_Silent_p.R83R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	83	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAATGATCTTCCTACAAAGAT	0.443000													51	65					0	0	0.014410	0	0
DCP1B	196513	broad.mit.edu	37	12	2064598	2064598	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:2064598C>T	ENST00000280665.6	-	6	730	c.651_splice	c.e6+1	p.Q217_splice	DCP1B_ENST00000540622.1_Splice_Site_p.Q91_splice|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Splice_Site_p.Q115_splice	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	217					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AACTCCGTACCTGGTTGGGCT	0.443000													85	198					0	0	0.014410	0	0
PSPC1	55269	broad.mit.edu	37	13	20279916	20279916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:20279916C>T	ENST00000338910.4	-	8	1431	c.1272G>A	c.(1270-1272)atG>atA	p.M424I		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	424	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGTTCATATTCATACCCATCA	0.483000													29	130					0	0	0.003755	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660215	77660215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:77660215G>T	ENST00000296043.6	+	5	1842	c.889G>T	c.(889-891)Gaa>Taa	p.E297*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	297					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)			TGGCCTCCTCGAAGGGATGAG	0.557000													17	92					3.32936e-07	3.38467e-07	0.006122	1	0
AMPD3	272	broad.mit.edu	37	11	10518431	10518431	+	Silent	SNP	C	C	T	rs78473994	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:10518431C>T	ENST00000444303.2	+	9	1498	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	AMPD3_ENST00000396554.3_Silent_p.F510F	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	501					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCCCCTTTTCAAGGCCACTA	0.507000													52	187					0	0	0.014410	0	0
PDHA1	5160	broad.mit.edu	37	X	19369387	19369387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:19369387C>T	ENST00000545074.1	+	4	446	c.301C>T	c.(301-303)Cct>Tct	p.P101S	PDHA1_ENST00000540249.1_Intron|PDHA1_ENST00000379805.3_Intron|PDHA1_ENST00000422285.2_Intron|PDHA1_ENST00000379806.5_Intron	NM_000284.3|NM_001173455.1	NP_000275.1|NP_001166926.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	97					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GTTTCTCCTTCCTCTAACACA	0.473000													49	68					0	0	0.014410	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367362	234367362	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:234367362G>A	ENST00000366618.3	+	3	628	c.483G>A	c.(481-483)agG>agA	p.R161R	SLC35F3_ENST00000366617.3_Silent_p.R92R	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	92					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGACCTTCAGGAAGTTCGACG	0.602000													91	300					0	0	0.014410	0	0
NPY4R	5540	broad.mit.edu	37	10	47087410	47087410	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:47087410C>T	ENST00000374312.1	+	3	1046	c.627C>T	c.(625-627)caC>caT	p.H209H	NPY4R_ENST00000395716.1_Silent_p.H209H	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CACTGGCTCACCACCGCACCA	0.577000													41	145					0	0	0.013114	0	0
ITGAL	3683	broad.mit.edu	37	16	30507442	30507442	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:30507442C>T	ENST00000356798.6	+	14	1708	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.L427L|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	510					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGTCTCAGAGCTGCAGGGGGA	0.562000													62	131					0	0	0.014410	0	0
HTR3B	9177	broad.mit.edu	37	11	113802575	113802575	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:113802575C>T	ENST00000260191.2	+	4	611	c.354C>T	c.(352-354)atC>atT	p.I118I	HTR3B_ENST00000537778.1_Silent_p.I107I	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	118					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CCCCCGATATCATCATCAATG	0.453000													42	57					0	0	0.014410	0	0
SATB2	23314	broad.mit.edu	37	2	200137014	200137014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:200137014C>T	ENST00000443023.1	-	10	3410	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	SATB2_ENST00000457245.1_Missense_Mutation_p.E708K|SATB2_ENST00000417098.1_Missense_Mutation_p.E708K|SATB2_ENST00000428695.1_Missense_Mutation_p.E590K|SATB2_ENST00000260926.5_Missense_Mutation_p.E708K			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	708						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACATCTCCTCGGAGCCTTCC	0.532000													20	68					0	0	0.008871	0	0
TLN2	83660	broad.mit.edu	37	15	62985100	62985100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:62985100C>T	ENST00000561311.1	+	12	1405	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	TLN2_ENST00000306829.6_Missense_Mutation_p.S392F			Q9Y4G6	TLN2_HUMAN	talin 2	392	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAGCAGATATCCCAGCTGATT	0.408000													46	111					0	0	0.014410	0	0
TSSK2	23617	broad.mit.edu	37	22	19119041	19119041	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:19119041C>T	ENST00000399635.2	+	1	721	c.129C>T	c.(127-129)atC>atT	p.I43I	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	43	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCAAGATCATCGACCGCAAGA	0.493000													45	88					0	0	0.014410	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657705	72657705	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:72657705C>T	ENST00000425256.1	-	0	2206					NR_002164.1																						ccatcgctttcatttctggaa	0.478000													91	144					0	0	0.014410	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240382	160240382	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:160240382C>T	ENST00000275275.5	+	18	1668	c.1497C>T	c.(1495-1497)ctC>ctT	p.L499L	PNLDC1_ENST00000392167.3_Silent_p.L510L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	499						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACTGCCTGCTCCAGTAAGTGA	0.632000													15	21					0	0	0.004990	0	0
CD300C	10871	broad.mit.edu	37	17	72537790	72537790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72537790C>T	ENST00000330793.1	-	4	973	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	205					cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GGTCTGTTCACCCAGAGGACG	0.592000													36	82					0	0	0.003271	0	0
HDC	3067	broad.mit.edu	37	15	50546362	50546362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:50546362C>T	ENST00000267845.3	-	6	1087	c.685G>A	c.(685-687)Gag>Aag	p.E229K	HDC_ENST00000543581.1_Missense_Mutation_p.E229K	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	229					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTGTCTTCCTCGATGGCCTTC	0.473000													35	87					0	0	0.003755	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128657	248128657	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248128657C>T	ENST00000366480.3	+	1	123	c.24C>T	c.(22-24)tcC>tcT	p.S8S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			atgtcatctCCTTTGATATTT	0.338000													31	65					0	0	0.009535	0	0
SPTA1	6708	broad.mit.edu	37	1	158617436	158617436	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158617436C>T	ENST00000368148.3	-	27	3969	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q	SPTA1_ENST00000368147.3_Silent_p.Q1263Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1263					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTCCATTTTCTGTCTCTGCA	0.537000													26	69					0	0	0.005443	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661578	133661578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:133661578G>A	ENST00000310926.4	-	11	1769	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S423F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	499					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGCTGAAGCGGATCCCCCGGT	0.522000													47	162					0	0	0.014410	0	0
TSPAN18	90139	broad.mit.edu	37	11	44941525	44941525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:44941525G>A	ENST00000340160.3	+	7	829	c.590G>A	c.(589-591)gGa>gAa	p.G197E	TSPAN18_ENST00000520358.2_Missense_Mutation_p.G197E	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	197						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TGCCTCCTGGGAAGGAGCCTA	0.637000													54	97					0	0	0.014410	0	0
CCDC60	160777	broad.mit.edu	37	12	119937890	119937890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:119937890G>A	ENST00000327554.2	+	6	1030	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	189										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAGGGACCCGGGTGGAAGCAA	0.423000													30	146					0	0	0.003755	0	0
TSTD2	158427	broad.mit.edu	37	9	100380128	100380128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:100380128G>A	ENST00000341170.4	-	4	896	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000484708.1_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	172										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CAGTAATAAAGGAGCACCTCC	0.483000													16	65					0	0	0.003163	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184567	72184567	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:72184567G>A	ENST00000537465.1	-	5	734	c.576C>T	c.(574-576)atC>atT	p.I192I	PMFBP1_ENST00000355636.6_Silent_p.I47I|PMFBP1_ENST00000237353.10_Silent_p.I192I			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	192										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTAGTAACTCGATGTTGCTCA	0.527000													35	147					0	0	0.004289	0	0
GTF2I	2969	broad.mit.edu	37	7	74159269	74159269	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:74159269C>T	ENST00000324896.4	+	21	2312	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GTF2I_ENST00000353920.4_Silent_p.F621F|GTF2I_ENST00000416070.1_Silent_p.F600F|GTF2I_ENST00000346152.4_Silent_p.F620F|GTF2I_ENST00000438130.2_3'UTR	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	641					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAATCAAGTTCGTTGTTAAAA	0.413000													25	218					0	0	0.007291	0	0
SETBP1	26040	broad.mit.edu	37	18	42532252	42532252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:42532252C>T	ENST00000282030.5	+	4	3243	c.2947C>T	c.(2947-2949)Ccc>Tcc	p.P983S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	983						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAATCCATATCCCAGCATTTT	0.453000									Schinzel-Giedion syndrome				52	64					0	0	0.014410	0	0
MAGI1	9223	broad.mit.edu	37	3	65346841	65346841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:65346841G>A	ENST00000483466.1	-	23	3995	c.3754C>T	c.(3754-3756)Cct>Tct	p.P1252S	MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.P1156S|MAGI1_ENST00000402939.2_Intron	NM_004742.2	NP_004733.2	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	0					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTCATGCCAGGGAAGGAAGGA	0.483000													51	79					0	0	0.014410	0	0
SLC7A2	6542	broad.mit.edu	37	8	17419559	17419559	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:17419559C>T	ENST00000470360.1	+	12	1845	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	SLC7A2_ENST00000494857.1_Silent_p.F537F|SLC7A2_ENST00000004531.10_Silent_p.F577F|SLC7A2_ENST00000398090.3_Silent_p.F576F|SLC7A2_ENST00000522656.1_Silent_p.F537F			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	537					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGTTCTCTTCGTTGCCATCG	0.512000													9	66					0	0	0.008291	0	0
PPIL4	85313	broad.mit.edu	37	6	149833342	149833342	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:149833342A>G	ENST00000340881.2	-	2	607	c.74T>C	c.(73-75)gTt>gCt	p.V25A	PPIL4_ENST00000253329.2_Silent_p.C392C			Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	0	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCTCTTCAGAACAGTGATGGG	0.363000													51	93					0	0	0.014410	0	0
ANO2	57101	broad.mit.edu	37	12	5860133	5860133	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:5860133C>T	ENST00000327087.8	-	11	1118	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ANO2_ENST00000546188.1_Silent_p.K350K|ANO2_ENST00000356134.5_Silent_p.K350K			Q9NQ90	ANO2_HUMAN	anoctamin 2	354						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCCAAAATACTTTCTGGAAA	0.333000													4	18					0	0	0.009096	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2415735	2415735	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:2415735G>A	ENST00000332578.3	+	10	1539	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	513	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTGCCTCCGGGGAGGTGCCCT	0.667000													36	60					0	0	0.007835	0	0
HTT	3064	broad.mit.edu	37	4	3201562	3201562	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:3201562C>T	ENST00000355072.5	+	41	5617	c.5472C>T	c.(5470-5472)tcC>tcT	p.S1824S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1824					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)		GGGCTCGTTCCATGATCACCA	0.597000													33	69					0	0	0.013726	0	0
PCSK1	5122	broad.mit.edu	37	5	95728818	95728818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:95728818C>T	ENST00000311106.3	-	14	2386	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.E670K|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	717					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGACTGTCTTCAGAGTCTTTA	0.423000													67	126					0	0	0.014410	0	0
BEND2	139105	broad.mit.edu	37	X	18213556	18213556	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:18213556T>C	ENST00000380033.4	-	7	1172	c.1040A>G	c.(1039-1041)aAa>aGa	p.K347R	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	347										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAGTATAATTTTCTCAGCTAT	0.368000													17	45					0	0	0.004990	0	0
IGLV5-52	28779	broad.mit.edu	37	22	22673378	22673378	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:22673378C>T	ENST00000390289.2	+	0	176				LL22NC03-80A10.6_ENST00000426066.1_RNA																							TAAGGTGGTACCAACAAAAGC	0.542000													119	211					0	0	0.014410	0	0
NTS	4922	broad.mit.edu	37	12	86276074	86276074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:86276074C>T	ENST00000256010.6	+	4	541	c.434C>T	c.(433-435)cCt>cTt	p.P145L	NTS_ENST00000551529.1_Missense_Mutation_p.P70L	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	145					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						AGAAAAATTCCTTATATTCTG	0.313000													52	147					0	0	0.014410	0	0
M1AP	130951	broad.mit.edu	37	2	74808912	74808912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:74808912C>T	ENST00000290536.5	-	5	774	c.658G>A	c.(658-660)Gag>Aag	p.E220K	M1AP_ENST00000409585.1_Missense_Mutation_p.E220K|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.E220K	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		AAGAAAATCTCCATGCTGACG	0.398000													59	124					0	0	0.014410	0	0
MRAP2	112609	broad.mit.edu	37	6	84799011	84799011	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:84799011A>G	ENST00000257776.4	+	4	564	c.429A>G	c.(427-429)caA>caG	p.Q143Q		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	143					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						GTGACGTCCAACTCCAGGAAG	0.522000													23	47					0	0	0.003954	0	0
ZNF493	284443	broad.mit.edu	37	19	21606448	21606448	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:21606448C>T	ENST00000392288.2	+	4	1096	c.987C>T	c.(985-987)gcC>gcT	p.A329A	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.A201A	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTGGCAAAGCCTTTAGTATTT	0.343000													15	63					0	0	0.002450	0	0
OR51S1	119692	broad.mit.edu	37	11	4869671	4869671	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4869671G>A	ENST00000322101.2	-	1	843	c.768C>T	c.(766-768)ctC>ctT	p.L256L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATAGAAGAGGAGCACTGCAG	0.512000													14	71					0	0	0.002450	0	0
ZNF816	125893	broad.mit.edu	37	19	53432467	53432467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:53432467C>T	ENST00000549216.1	-	2	254	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ZNF816_ENST00000434371.2_Missense_Mutation_p.E131K|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF321P_ENST00000391777.3_Missense_Mutation_p.E131K	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	131	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTTTGATTTCTGTCATGGGT	0.408000													132	201					0	0	0.014410	0	0
NSD1	64324	broad.mit.edu	37	5	176696740	176696740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:176696740C>T	ENST00000439151.2	+	16	5486	c.5441C>T	c.(5440-5442)cCt>cTt	p.P1814L	NSD1_ENST00000354179.4_Missense_Mutation_p.P1545L|NSD1_ENST00000347982.4_Missense_Mutation_p.P1545L|NSD1_ENST00000361032.4_Missense_Mutation_p.P1711L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1814	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		CGAGTCTTCCCTTACATGGAG	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			46	70					0	0	0.014410	0	0
STK11IP	114790	broad.mit.edu	37	2	220473424	220473424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220473424C>T	ENST00000456909.1	+	15	1813	c.1723C>T	c.(1723-1725)Cgc>Tgc	p.R575C	STK11IP_ENST00000295641.10_Missense_Mutation_p.R586C			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	586	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAAGCAGCTCGCACCTTGGA	0.652000													22	53					0	0	0.010504	0	0
LRRN1	57633	broad.mit.edu	37	3	3888048	3888048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:3888048C>T	ENST00000319331.3	+	2	2484	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	575	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGCCAGGGTCCCAGTCGATGT	0.433000													81	288					0	0	0.014410	0	0
BCAR1	9564	broad.mit.edu	37	16	75269071	75269071	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:75269071G>A	ENST00000546196.1	-	5	3291	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	BCAR1_ENST00000542031.2_Silent_p.L574L|BCAR1_ENST00000538440.2_Silent_p.L576L|BCAR1_ENST00000535626.2_Silent_p.L428L|BCAR1_ENST00000420641.3_Silent_p.L594L|BCAR1_ENST00000418647.3_Silent_p.L622L|BCAR1_ENST00000393420.6_Silent_p.L594L|BCAR1_ENST00000162330.5_Silent_p.L576L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Silent_p.L594L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	576	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCGGTCCAGGTCCTCAAGG	0.677000													23	40					0	0	0.004656	0	0
RP1L1	94137	broad.mit.edu	37	8	10466107	10466107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10466107C>T	ENST00000382483.3	-	4	5724	c.5501G>A	c.(5500-5502)gGc>gAc	p.G1834D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1834					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTATGCCTTCGGCCCC	0.637000													145	325					0	0	0.014410	0	0
MORC1	27136	broad.mit.edu	37	3	108782032	108782032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:108782032C>T	ENST00000232603.5	-	10	944	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	MORC1_ENST00000483760.1_Missense_Mutation_p.E288K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	288					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTTAACTTCATCTTTAAAT	0.308000													49	83					0	0	0.014410	0	0
LTBP1	4052	broad.mit.edu	37	2	33622247	33622247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:33622247C>T	ENST00000404816.2	+	33	5235	c.4882C>T	c.(4882-4884)Ctc>Ttc	p.L1628F	LTBP1_ENST00000354476.3_Missense_Mutation_p.L1629F|LTBP1_ENST00000407925.1_Missense_Mutation_p.L1302F|LTBP1_ENST00000272273.5_Missense_Mutation_p.L526F|LTBP1_ENST00000390003.4_Missense_Mutation_p.L1303F|LTBP1_ENST00000402934.1_Missense_Mutation_p.L1247F|LTBP1_ENST00000418533.2_Missense_Mutation_p.L1260F|LTBP1_ENST00000404525.1_Missense_Mutation_p.L1249F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1628	EGF-like 17.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGCGGCATCCTCAATGGATG	0.463000													20	43					0	0	0.010504	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973834	120973834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:120973834G>A	ENST00000273666.6	+	16	1805	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	STXBP5L_ENST00000492541.1_Missense_Mutation_p.E512K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E512K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E512K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E512K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	512					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATTGTAGAGGAAGACCCATT	0.363000													26	87					0	0	0.004656	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673292	141673292	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141673292G>A	ENST00000547270.1	-	1	281	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	66					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTCCATGCAGGAAAAGCCGGC	0.493000													35	102					0	0	0.003271	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885043	88885043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:88885043C>T	ENST00000319675.3	-	1	1253	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	386								p.R386Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGGTCCTCCCGGACAGCCAT	0.547000													19	43					0	0	0.010504	0	0
TRAK2	66008	broad.mit.edu	37	2	202264134	202264134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202264134G>A	ENST00000332624.3	-	5	874	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TRAK2_ENST00000430254.1_Missense_Mutation_p.S149F	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	149						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CTCCTCCAGGGATTCGTTCTG	0.388000													14	39					0	0	0.003163	0	0
PLA2G6	8398	broad.mit.edu	37	22	38525490	38525490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38525490G>A	ENST00000332509.3	-	8	1340	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	PLA2G6_ENST00000335539.3_Missense_Mutation_p.P386L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.P386L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	386					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TAGGAATGTAGGAGTCTCCCC	0.557000													58	106					0	0	0.014410	0	0
OC90	729330	broad.mit.edu	37	8	133049730	133049730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:133049730G>A	ENST00000262283.5	-	12	1321	c.1222C>T	c.(1222-1224)Cct>Tct	p.P408S	OC90_ENST00000254627.3_Missense_Mutation_p.P212S|OC90_ENST00000443356.2_Missense_Mutation_p.P212S|OC90_ENST00000603859.1_Missense_Mutation_p.P212S			Q02509	OC90_HUMAN	otoconin 90	212	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCTCCACAGGAACCACTGGA	0.537000													3	10					0	0	0.004672	0	0
DNAH10	196385	broad.mit.edu	37	12	124293432	124293432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:124293432C>T	ENST00000409039.3	+	18	2747	c.2722C>T	c.(2722-2724)Cat>Tat	p.H908Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	908	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATCATCCTTCATCCCAACAC	0.478000													188	422					0	0	0.014410	0	0
WHSC1	7468	broad.mit.edu	37	4	1920067	1920067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:1920067C>T	ENST00000503128.1	+	5	1334	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	WHSC1_ENST00000382891.5_Missense_Mutation_p.S376F|WHSC1_ENST00000382892.2_Missense_Mutation_p.S376F|WHSC1_ENST00000382895.3_Missense_Mutation_p.S376F|WHSC1_ENST00000514045.1_Missense_Mutation_p.S376F|WHSC1_ENST00000420906.2_Missense_Mutation_p.S376F|WHSC1_ENST00000508803.1_Missense_Mutation_p.S376F|WHSC1_ENST00000398261.1_Missense_Mutation_p.S376F			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	376					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S376Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATGGCAGAATCCTCAGGAGTC	0.512000			T	IGH@	MM								26	81					0	0	0.005443	0	0
THSD7B	80731	broad.mit.edu	37	2	138400076	138400076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:138400076G>A	ENST00000409968.1	+	21	3996	c.3818G>A	c.(3817-3819)cGa>cAa	p.R1273Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1245Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1276Q					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)		AGCCGGACTCGATTTATCATT	0.498000													42	102					0	0	0.014410	0	0
AP2B1	163	broad.mit.edu	37	17	33966762	33966762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:33966762C>T	ENST00000262325.7	+	11	1973	c.1420C>T	c.(1420-1422)Cac>Tac	p.H474Y	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.H474Y|AP2B1_ENST00000592545.1_Missense_Mutation_p.H436Y|AP2B1_ENST00000538556.1_Missense_Mutation_p.H417Y|AP2B1_ENST00000589344.1_Missense_Mutation_p.H474Y|AP2B1_ENST00000312678.8_Missense_Mutation_p.H474Y	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	474					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGAGGGTTTTCACGATGAAAG	0.418000													32	70					0	0	0.005524	0	0
LPL	4023	broad.mit.edu	37	8	19816795	19816795	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:19816795A>C	ENST00000311322.8	+	7	1513	c.1043A>C	c.(1042-1044)cAt>cCt	p.H348P		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	348	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GTAAAGATTCATTTTTCTGGG	0.423000													15	26					0	0	0.004990	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910669	61910669	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:61910669G>C	ENST00000448276.2	-	11	1694	c.1429C>G	c.(1429-1431)Cga>Gga	p.R477G	SMARCD2_ENST00000323347.10_Missense_Mutation_p.R429G|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R402G	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	477					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TTGAGGTCTCGGCGCTGGGAA	0.542000													24	75					0	0	0.002780	0	0
MMP12	4321	broad.mit.edu	37	11	102743833	102743833	+	RNA	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:102743833C>A	ENST00000532855.1	-	0	208							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TAAAATTTTTCTAAGTATCTC	0.328000													12	17					3.07112e-06	3.12028e-06	0.010729	1	0
CD163	9332	broad.mit.edu	37	12	7649613	7649613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7649613C>T	ENST00000359156.4	-	5	1097	c.895G>A	c.(895-897)Gat>Aat	p.D299N	CD163_ENST00000396620.3_Missense_Mutation_p.D299N|CD163_ENST00000432237.2_Missense_Mutation_p.D299N|CD163_ENST00000541972.1_Missense_Mutation_p.D287N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	299	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.D299H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGCAGCATCGTAACTGTCC	0.502000													30	47					0	0	0.007291	0	0
NELL2	4753	broad.mit.edu	37	12	44915951	44915951	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:44915951G>A	ENST00000429094.2	-	18	2511	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F	NELL2_ENST00000551601.1_Silent_p.F621F|NELL2_ENST00000333837.4_Silent_p.F692F|NELL2_ENST00000437801.2_Silent_p.F719F|NELL2_ENST00000549027.1_Silent_p.F668F|NELL2_ENST00000452445.2_Silent_p.F669F|NELL2_ENST00000395487.2_Silent_p.F668F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	669	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GACACATAACGAATCCATTCT	0.443000													17	47					0	0	0.007413	0	0
OR51B2	79345	broad.mit.edu	37	11	5345133	5345133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5345133G>A	ENST00000328813.2	-	1	449	c.395C>T	c.(394-396)tCc>tTc	p.S132F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGAATGGAAGCATATCT	0.418000													11	54					0	0	0.010729	0	0
VPS13B	157680	broad.mit.edu	37	8	100479699	100479699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:100479699G>A	ENST00000395996.1	+	24	3614	c.3503G>A	c.(3502-3504)gGa>gAa	p.G1168E	VPS13B_ENST00000358544.2_Missense_Mutation_p.G1168E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1168E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1168					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)			ACCCTTCTTGGAAAACAAGTG	0.443000													44	113					0	0	0.014410	0	0
PDE10A	10846	broad.mit.edu	37	6	165957015	165957015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:165957015G>A	ENST00000366882.1	-	3	233	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	PDE10A_ENST00000539869.2_Missense_Mutation_p.P37S|PDE10A_ENST00000354448.4_Missense_Mutation_p.P27S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	27					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AATACCTGGGGGTGAAGAGAA	0.358000													27	42					0	0	0.006320	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885042	88885042	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:88885042C>T	ENST00000319675.3	-	1	1254	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	386										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAAGGTCCTCCCGGACAGCCA	0.547000													19	42					0	0	0.010504	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453891	84453891	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:84453891C>T	ENST00000377084.2	-	1	2637	c.1752G>A	c.(1750-1752)agG>agA	p.R584R		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	584						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGGGCGAGATCCTAGCGTACA	0.537000													14	24					0	0	0.003163	0	0
OR4K14	122740	broad.mit.edu	37	14	20483307	20483307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20483307C>T	ENST00000305045.2	-	1	45	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGCAGAGTCCATGCAACACA	0.373000													27	77					0	0	0.005443	0	0
XIRP1	165904	broad.mit.edu	37	3	39226003	39226003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:39226003C>T	ENST00000340369.3	-	2	5162	c.4934G>A	c.(4933-4935)aGg>aAg	p.R1645K	XIRP1_ENST00000421646.1_Missense_Mutation_p.R328K|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1645							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCCTGCCTCCTGGTGGAAGG	0.542000													57	200					0	0	0.014410	0	0
TCL6	27004	broad.mit.edu	37	14	96137710	96137710	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:96137710C>T	ENST00000467865.1	+	0	2067				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ctgtctcattcgcctctggat	0.468000			T	TRA@	T-ALL								15	48					0	0	0.010504	0	0
OR8K3	219473	broad.mit.edu	37	11	56085890	56085890	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56085890G>A	ENST00000312711.1	+	1	108	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	36					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)					TGATCTATGTGATCTCAGTGA	0.433000													44	67					0	0	0.014410	0	0
IGSF9	57549	broad.mit.edu	37	1	159898714	159898714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159898714C>T	ENST00000368094.1	-	19	2661	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	IGSF9_ENST00000361509.3_Missense_Mutation_p.D806N|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	822						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGGCAGGATCCCCCCAGAGC	0.672000													10	23					0	0	0.006214	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825638	52825638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:52825638C>T	ENST00000375511.3	-	2	861	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	37								p.E37K(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AAACTCGGTTCGAGGACTAAG	0.388000													36	47					0	0	0.003755	0	0
ELP6	54859	broad.mit.edu	37	3	47539878	47539878	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:47539878A>T	ENST00000296149.4	-	6	740	c.570T>A	c.(568-570)gaT>gaA	p.D190E	ELP6_ENST00000439305.1_Missense_Mutation_p.D117E|ELP6_ENST00000446787.1_Missense_Mutation_p.D117E	NM_001031703.2	NP_001026873.2			elongator acetyltransferase complex subunit 6																		CATTCTCCTCATCCTCCGCAT	0.562000													48	139					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100691290	100691290	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100691290G>A	ENST00000306151.4	+	4	12493	c.12429G>A	c.(12427-12429)acG>acA	p.T4143T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4143	EGF-like.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAGAATACGGCCTCTCGCT	0.532000													51	134					0	0	0.014410	0	0
PLCE1	51196	broad.mit.edu	37	10	95791276	95791276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:95791276G>A	ENST00000260766.3	+	2	1107	c.473G>A	c.(472-474)aGa>aAa	p.R158K	PLCE1_ENST00000371380.2_Missense_Mutation_p.R158K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	158					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAACTAGACAGACCTTCCATG	0.433000													22	41					0	0	0.003330	0	0
CTXN3	613212	broad.mit.edu	37	5	126993430	126993430	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:126993430A>C	ENST00000379445.3	+	3	768	c.217A>C	c.(217-219)Aaa>Caa	p.K73Q	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.K73Q	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	73						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		AGGCCTGGAGAAAGGGCAGTT	0.502000													16	33					0	0	0.006122	0	0
KIF7	374654	broad.mit.edu	37	15	90171865	90171865	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:90171865A>T	ENST00000394412.3	-	19	3893	c.3817T>A	c.(3817-3819)Tta>Ata	p.L1273I	KIF7_ENST00000558928.1_5'UTR	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1273					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTCAAGGGTAACGGAGCGTGG	0.697000													48	97					0	0	0.014410	0	0
PCSK6	5046	broad.mit.edu	37	15	101933554	101933554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:101933554C>T	ENST00000348070.1	-	9	1068	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	PCSK6_ENST00000344273.2_Missense_Mutation_p.D357N|PCSK6_ENST00000331826.7_Missense_Mutation_p.D192N|PCSK6_ENST00000358417.3_Missense_Mutation_p.D357N|PCSK6_ENST00000398181.2_Missense_Mutation_p.D357N|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	358	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGTAGCCATCGCACGAGCAG	0.617000													32	64					0	0	0.013726	0	0
ENO2	2026	broad.mit.edu	37	12	7030875	7030875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7030875G>A	ENST00000535366.1	+	8	1623	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	ENO2_ENST00000541477.1_Missense_Mutation_p.E333K|ENO2_ENST00000229277.1_Missense_Mutation_p.E333K|ENO2_ENST00000544774.1_Missense_Mutation_p.E290K|ENO2_ENST00000538763.1_Missense_Mutation_p.E290K|ENO2_ENST00000545045.2_Missense_Mutation_p.E214K			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	333					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGGGCAGTGGAAGAAAAGGC	0.547000													38	89					0	0	0.006230	0	0
CLVS1	157807	broad.mit.edu	37	8	62289207	62289207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:62289207G>A	ENST00000519846.1	+	4	971	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	CLVS1_ENST00000325897.4_Missense_Mutation_p.E167K|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	167	CRAL-TRIO.				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						GCTGTCATTGGAAGTCCTAAT	0.443000													28	68					0	0	0.005443	0	0
FTCD	10841	broad.mit.edu	37	21	47574103	47574103	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47574103G>A	ENST00000397748.1	-	2	241	c.198C>T	c.(196-198)gcC>gcT	p.A66A	FTCD_ENST00000359679.2_Silent_p.A66A|FTCD_ENST00000397743.1_Silent_p.A66A|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Silent_p.A66A|FTCD_ENST00000355384.2_Silent_p.A66A|FTCD_ENST00000397746.3_Silent_p.A66A			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	66	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AAGCTACCCGGGCAGCGTTGA	0.657000													29	111					0	0	0.003271	0	0
CAPS2	84698	broad.mit.edu	37	12	75683520	75683520	+	Missense_Mutation	SNP	G	G	A	rs144198119		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:75683520G>A	ENST00000393284.3	-	14	1238	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	CAPS2_ENST00000442339.2_Missense_Mutation_p.R35C|CAPS2_ENST00000409445.3_Missense_Mutation_p.R445C|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.R363C|RP11-560G2.1_ENST00000549953.1_RNA			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	445							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTCAAAATACGAACACCTCTT	0.333000													21	84					0	0	0.002780	0	0
DNAH7	56171	broad.mit.edu	37	2	196722214	196722214	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196722214G>A	ENST00000312428.6	-	44	8401	c.8301C>T	c.(8299-8301)atC>atT	p.I2767I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2767	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTCTTATGATATTCATAT	0.393000													18	45					0	0	0.004990	0	0
ARAP1	116985	broad.mit.edu	37	11	72406880	72406880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:72406880C>T	ENST00000359373.5	-	24	4154	c.3303G>A	c.(3301-3303)atG>atA	p.M1101I	ARAP1_ENST00000393609.3_Missense_Mutation_p.M1101I|ARAP1_ENST00000393605.3_Missense_Mutation_p.M861I|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Missense_Mutation_p.M795I|ARAP1_ENST00000426523.1_Missense_Mutation_p.M856I|ARAP1_ENST00000334211.8_Missense_Mutation_p.M856I|ARAP1_ENST00000455638.2_Missense_Mutation_p.M1101I			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1101	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTGCACGTTCATCTGGTTCG	0.537000													178	232					0	0	0.014410	0	0
PEX19	5824	broad.mit.edu	37	1	160252837	160252837	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160252837G>A	ENST00000368072.5	-	3	264	c.243C>T	c.(241-243)tcC>tcT	p.S81S	PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGTGGCTTGGGAAGCCAGTT	0.537000													37	123					0	0	0.005524	0	0
ERBB4	2066	broad.mit.edu	37	2	212488680	212488680	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:212488680G>A	ENST00000342788.4	-	18	2479	c.2169C>T	c.(2167-2169)gtC>gtT	p.V723V	ERBB4_ENST00000402597.1_Silent_p.V713V|ERBB4_ENST00000436443.1_Silent_p.V723V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	723	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGAGCCAAGGACTTTTACCC	0.388000										TSP Lung(8;0.080)			23	64					0	0	0.003954	0	0
LCE1E	353135	broad.mit.edu	37	1	152759897	152759897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152759897C>T	ENST00000368770.3	+	2	175	c.122C>T	c.(121-123)tCt>tTt	p.S41F	LCE1E_ENST00000368771.1_Missense_Mutation_p.S41F	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	41	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCAGTCTCTTCCTGCTGC	0.662000													59	188					0	0	0.014410	0	0
FBXO21	23014	broad.mit.edu	37	12	117612501	117612501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:117612501G>A	ENST00000427718.2	-	5	768	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F	FBXO21_ENST00000330622.5_Missense_Mutation_p.L232F|FBXO21_ENST00000549689.1_5'UTR	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	232					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ATGCCCCGAAGGGTTTTGCAA	0.478000													17	61					0	0	0.004990	0	0
GPR98	84059	broad.mit.edu	37	5	89941810	89941810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:89941810C>T	ENST00000405460.2	+	16	3020	c.2924C>T	c.(2923-2925)aCc>aTc	p.T975I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	975	Calx-beta 7.				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			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)		GAAGAATTTACCGTTATCCTA	0.338000													10	9					0	0	0.008291	0	0
ADAM28	10863	broad.mit.edu	37	8	24199248	24199248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:24199248G>A	ENST00000265769.4	+	16	1918	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E	ADAM28_ENST00000397649.3_Missense_Mutation_p.G350E|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	603	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGGCCAATGGAACTAAGTGT	0.403000													8	73					0	0	0.004482	0	0
OR8K1	390157	broad.mit.edu	37	11	56114262	56114262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56114262C>T	ENST00000279783.2	+	1	842	c.748C>T	c.(748-750)Cat>Tat	p.H250Y		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CTGTAGCTCTCATCTGACAGT	0.408000										HNSCC(65;0.19)			15	23					0	0	0.002450	0	0
MUC2	4583	broad.mit.edu	37	11	1095331	1095331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1095331C>T	ENST00000441003.2	+	32	6178	c.6151C>T	c.(6151-6153)Cca>Tca	p.P2051S	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.P189S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4413						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCGAGTGCCCAGACTTTGA	0.687000													12	47					0	0	0.003163	0	0
VPS37B	79720	broad.mit.edu	37	12	123351856	123351856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:123351856G>A	ENST00000267202.2	-	4	1046	c.665C>T	c.(664-666)cCg>cTg	p.P222L		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	222	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGCAGTAAACGGGGTGGCTAA	0.706000													17	25					0	0	0.006122	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137133	126137133	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:126137133C>T	ENST00000299308.3	+	8	2054	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	TMEM132B_ENST00000535886.1_Silent_p.I194I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	682						integral to membrane		p.I682I(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAAGGGCCATCGTCTCCACAG	0.607000													29	69					0	0	0.013726	0	0
MCC	4163	broad.mit.edu	37	5	112720857	112720857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:112720857C>T	ENST00000408903.3	-	2	638	c.223G>A	c.(223-225)Gag>Aag	p.E75K	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTCATGATCTCAGCCACAGAC	0.433000													51	66					0	0	0.014410	0	0
A1CF	29974	broad.mit.edu	37	10	52619604	52619604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:52619604G>A	ENST00000282641.2	-	3	284	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	A1CF_ENST00000373997.3_Nonsense_Mutation_p.Q33*|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Q33*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.Q33*|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.1_Nonsense_Mutation_p.Q33*	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	33					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTCCTACCTGGACCAAGCTA	0.498000													16	21					0	0	0.004990	0	0
KNG1	3827	broad.mit.edu	37	3	186449367	186449367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:186449367G>A	ENST00000265023.4	+	6	918	c.706G>A	c.(706-708)Gat>Aat	p.D236N	KNG1_ENST00000287611.2_Missense_Mutation_p.D236N|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.D200N	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	236	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TGCATACATCGATATTCAGCT	0.368000													36	39					0	0	0.004289	0	0
LCP1	3936	broad.mit.edu	37	13	46726977	46726977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:46726977C>T	ENST00000398576.2	-	10	1065	c.677G>A	c.(676-678)gGa>gAa	p.G226E	LCP1_ENST00000323076.2_Missense_Mutation_p.G226E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	226	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCACAGAAGTCCCAGGACCAG	0.493000			T	BCL6	NHL								20	28					0	0	0.012319	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726745	25726745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:25726745C>T	ENST00000297012.3	-	1	45	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	4					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGCTTCCCTCGTCCAGACAT	0.522000													53	122					0	0	0.014410	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137536	40137536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:40137536C>T	ENST00000278198.2	-	2	2270	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.E103K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E103K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E103K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	103					regulation of axonogenesis	integral to membrane	protein binding	p.E103*(1)|p.E103K(1)		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)				TGTAGGATTTCCAAGTGTCTC	0.468000													11	35					0	0	0.008291	0	0
FGA	2243	broad.mit.edu	37	4	155507797	155507797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155507797C>T	ENST00000302053.3	-	5	862	c.784G>A	c.(784-786)Gag>Aag	p.E262K	FGA_ENST00000403106.3_Missense_Mutation_p.E262K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	262					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGGTCTCTCTAACTCCATT	0.517000													19	109					0	0	0.008871	0	0
TNXB	7148	broad.mit.edu	37	6	32052275	32052275	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32052275C>T	ENST00000375244.3	-	8	3561	c.3360G>A	c.(3358-3360)ctG>ctA	p.L1120L	TNXB_ENST00000375247.2_Silent_p.L1120L			P22105	TENX_HUMAN	tenascin XB	1207	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L1207L(2)|p.L1120L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCAGGATCCAGGGAGGTGA	0.582000													198	486					0	0	0.014410	0	0
XPO6	23214	broad.mit.edu	37	16	28112999	28112999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:28112999C>T	ENST00000304658.5	-	23	3556	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q	XPO6_ENST00000565698.1_Missense_Mutation_p.R1005Q	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1019					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CATGGCAGTCCGGAAGATCTT	0.577000													9	51					0	0	0.004482	0	0
MRRF	92399	broad.mit.edu	37	9	125075623	125075623	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125075623G>A	ENST00000344641.3	+	6	980	c.669G>A	c.(667-669)aaG>aaA	p.K223K	MRRF_ENST00000297908.3_Silent_p.K171K|MRRF_ENST00000373723.4_Intron|MRRF_ENST00000394315.3_Intron|MRRF_ENST00000373729.1_Silent_p.K179K	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	223					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						AGAAATCCAAGGATACAGTCT	0.428000													29	74					0	0	0.012213	0	0
MUC16	94025	broad.mit.edu	37	19	9063611	9063611	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9063611C>T	ENST00000397910.4	-	3	24038	c.23835G>A	c.(23833-23835)caG>caA	p.Q7945Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7947	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						GAGTGCTCATCTGTGAGTGTG	0.468000													30	76					0	0	0.006320	0	0
KRT10	3858	broad.mit.edu	37	17	38975387	38975387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38975387C>T	ENST00000269576.5	-	7	1409	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	TMEM99_ENST00000301665.3_5'UTR	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	467	Gly-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				gccgaaacttccgccgccgcg	0.682000													13	25					0	0	0.001855	0	0
GEMIN5	25929	broad.mit.edu	37	5	154296622	154296622	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:154296622G>A	ENST00000285873.7	-	13	1866	c.1791C>T	c.(1789-1791)agC>agT	p.S597S		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	597					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCATCAGATAGCTCAATTCTG	0.453000													58	101					0	0	0.014410	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:30973992G>A	ENST00000295055.8	-	11	1389	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000													17	35					0	0	0.004990	0	0
MAGI2	9863	broad.mit.edu	37	7	77998513	77998513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:77998513C>T	ENST00000354212.4	-	7	1316	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E355K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E187K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E192K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E355K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	355	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCGATTTTTTCCCAGCCATAT	0.259000													24	54					0	0	0.009535	0	0
RUSC2	9853	broad.mit.edu	37	9	35555487	35555487	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35555487C>T	ENST00000455600.1	+	3	3014	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	815						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGCCTGCCCCCATGGAGCC	0.632000													81	119					0	0	0.014410	0	0
ZNF845	91664	broad.mit.edu	37	19	53855283	53855283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:53855283C>T	ENST00000458035.1	+	4	1472	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	ZNF845_ENST00000595091.1_Missense_Mutation_p.S452L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGTTTCAAATCGAACCTTGAA	0.393000													40	44					0	0	0.005524	0	0
POU4F2	5458	broad.mit.edu	37	4	147561220	147561220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:147561220C>T	ENST00000281321.3	+	2	738	c.490C>T	c.(490-492)Cct>Tct	p.P164S		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	164					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATCTCGCACCCTTCCGCGTT	0.652000													8	49					0	0	0.006214	0	0
CPA5	93979	broad.mit.edu	37	7	130007340	130007340	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:130007340C>T	ENST00000485477.1	+	10	2095	c.966C>T	c.(964-966)atC>atT	p.I322I	CPA5_ENST00000461828.1_Silent_p.I322I|CPA5_ENST00000474905.1_Silent_p.I322I|CPA5_ENST00000431780.2_Silent_p.I322I|CPA5_ENST00000355388.3_Silent_p.I322I|CPA5_ENST00000466363.2_Silent_p.I322I|CPA5_ENST00000393213.3_Silent_p.I322I			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	322					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGATCTCCATCCACAGCTACT	0.557000													59	166					0	0	0.014410	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24893016	24893016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:24893016G>A	ENST00000382071.2	+	3	312	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R76Q			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	76	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAGGGAGAACGAGGTTAGTAG	0.453000													30	160					0	0	0.003271	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032886	193032886	+	Splice_Site	SNP	C	C	T	rs138259240		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:193032886C>T	ENST00000342358.4	-	18	2151		c.e18-1			NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CACTTTTTCTCTTTGTATTCA	0.323000													46	65					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13692205	13692205	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13692205T>C	ENST00000265104.4	-	79	13867	c.13763A>G	c.(13762-13764)aAg>aGg	p.K4588R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4588					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)					AACTGGCTTCTTATAGATGGG	0.473000									Kartagener syndrome				20	47					0	0	0.003330	0	0
TNRC6C	57690	broad.mit.edu	37	17	76067190	76067190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:76067190G>A	ENST00000335749.4	+	6	3363	c.2794G>A	c.(2794-2796)Gat>Aat	p.D932N	TNRC6C_ENST00000301624.4_Missense_Mutation_p.D935N|TNRC6C_ENST00000541771.1_Missense_Mutation_p.D935N|TNRC6C_ENST00000588061.1_Missense_Mutation_p.D935N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.D932N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.D932N	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	935	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCAAGCAGGATGAGGCCTG	0.507000													7	16					0	0	0.001984	0	0
CSMD1	64478	broad.mit.edu	37	8	3047446	3047446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:3047446G>A	ENST00000520002.1	-	35	5944	c.5389C>T	c.(5389-5391)Ccc>Tcc	p.P1797S	CSMD1_ENST00000537824.1_Missense_Mutation_p.P1796S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1796S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1796S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1797S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1797S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1797S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1797	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACAGCTGGGGATCGTGTCG	0.587000													3	11					0	0	0.009096	0	0
SPTBN4	57731	broad.mit.edu	37	19	41072235	41072235	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:41072235G>A	ENST00000352632.3	+	30	6392	c.6306G>A	c.(6304-6306)gaG>gaA	p.E2102E	SPTBN4_ENST00000392025.1_Silent_p.E845E|SPTBN4_ENST00000338932.3_Silent_p.E2102E|SPTBN4_ENST00000598249.1_Silent_p.E2102E			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2102					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGGGAAGAGAGGTTCAGCT	0.642000													4	8					0	0	0.009096	0	0
MYO1A	4640	broad.mit.edu	37	12	57430834	57430834	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57430834C>T	ENST00000442789.2	-	21	2384	c.2097G>A	c.(2095-2097)caG>caA	p.Q699Q	MYO1A_ENST00000300119.3_Silent_p.Q699Q|MYO1A_ENST00000544473.1_Silent_p.Q537Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	699	IQ 1.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GTGTGGCCAGCTGCTGGAGTC	0.567000													43	132					0	0	0.009718	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203745	140203745	+	Silent	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140203745C>A	ENST00000378126.3	+	1	2385	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031501.1	NP_113689.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTTTCCCTCCCAATTTT	0.373000													32	67					4.34311e-12	4.42707e-12	0.003271	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74621525	74621525	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:74621525T>A	ENST00000354431.4	-	4	790	c.599A>T	c.(598-600)aAt>aTt	p.N200I	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.N200I|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.N92I	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	200										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTAATATTATTAATTTCCTC	0.234000													19	35					0	0	0.006122	0	0
FLI1	2313	broad.mit.edu	37	11	128680672	128680672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:128680672C>T	ENST00000344954.6	+	9	1437	c.1049C>T	c.(1048-1050)tCt>tTt	p.S350F	FLI1_ENST00000429175.2_Missense_Mutation_p.S383F|FLI1_ENST00000281428.8_Missense_Mutation_p.S317F|FLI1_ENST00000525560.1_Missense_Mutation_p.S190F|FLI1_ENST00000534087.1_Missense_Mutation_p.S350F			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	383					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AAGTACCCTTCTGACATCTCC	0.517000			T	EWSR1	Ewing sarcoma								30	37					0	0	0.007291	0	0
BAHCC1	57597	broad.mit.edu	37	17	79426544	79426544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:79426544C>T	ENST00000307745.7	+	27	5819	c.5819C>T	c.(5818-5820)tCc>tTc	p.S1940F																								CGGCCACAGTCCAGCCGGTAC	0.677000													41	93					0	0	0.014410	0	0
MROH7	374977	broad.mit.edu	37	1	55158216	55158216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:55158216G>A	ENST00000414150.2	+	16	3109	c.2831G>A	c.(2830-2832)gGa>gAa	p.G944E	MROH7_ENST00000454855.2_Missense_Mutation_p.G462E|MROH7_ENST00000421030.2_Missense_Mutation_p.G944E|MROH7_ENST00000409996.1_Missense_Mutation_p.G512E|MROH7_ENST00000339553.5_Missense_Mutation_p.G944E|MROH7_ENST00000545244.1_Missense_Mutation_p.G512E|MROH7_ENST00000395690.2_Missense_Mutation_p.G944E					maestro heat-like repeat family member 7																		CACCACCGCGGAGTGGCCTTG	0.612000													32	63					0	0	0.003755	0	0
TLK2	11011	broad.mit.edu	37	17	60678057	60678057	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:60678057C>T	ENST00000582809.1	+	19	1852	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	TLK2_ENST00000542523.1_Silent_p.F500F|TLK2_ENST00000343388.7_Silent_p.F500F|TLK2_ENST00000326270.9_Silent_p.F554F|TLK2_ENST00000346027.5_Silent_p.F532F			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	554					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATCTGGACTTCTACCTGAAAC	0.358000													22	42					0	0	0.014323	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050993	110050993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110050993C>T	ENST00000369864.4	-	2	891	c.542G>A	c.(541-543)gGa>gAa	p.G181E	AMIGO1_ENST00000369862.1_Missense_Mutation_p.G181E			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	181					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TAGCTTGGCTCCTTCCTTGAC	0.547000													104	407					0	0	0.014410	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20563868	20563868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:20563868C>T	ENST00000202677.6	-	20	2675	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	845					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGGTACTTTCACCTGGTACA	0.428000													12	32					0	0	0.002450	0	0
GPR179	440435	broad.mit.edu	37	17	36482965	36482965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:36482965C>T	ENST00000342292.4	-	11	6507	c.6487G>A	c.(6487-6489)Gga>Aga	p.G2163R	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2163						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCGTCCCTCCAGGTCCTGCC	0.592000													60	188					0	0	0.014410	0	0
DMGDH	29958	broad.mit.edu	37	5	78325774	78325774	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:78325774C>T	ENST00000255189.3	-	11	1795	c.1767G>A	c.(1765-1767)ggG>ggA	p.G589G	DMGDH_ENST00000380311.4_Silent_p.G388G|DMGDH_ENST00000540686.1_Silent_p.G209G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	589					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AAAGAAACTCCCCAGGAGATT	0.363000													17	35					0	0	0.004990	0	0
MFSD9	84804	broad.mit.edu	37	2	103340268	103340268	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:103340268G>A	ENST00000258436.5	-	5	571	c.528C>T	c.(526-528)tcC>tcT	p.S176S		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	176					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGCCCACACCGGAGGCTGTGT	0.488000													54	107					0	0	0.014410	0	0
RALY	22913	broad.mit.edu	37	20	32663680	32663680	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:32663680G>A	ENST00000375114.3	+	5	908	c.329_splice	c.e5-1	p.R110_splice	RALY_ENST00000246194.3_Splice_Site_p.R126_splice|RALY_ENST00000493399.1_3'UTR	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	126						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCCCTCACAGGCTCTTCGACT	0.662000													11	25					0	0	0.010729	0	0
SPOPL	339745	broad.mit.edu	37	2	139326593	139326593	+	Silent	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:139326593A>T	ENST00000280098.4	+	11	1501	c.1122A>T	c.(1120-1122)ctA>ctT	p.L374L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	374						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTCGAGCACTAGCATCTGCAC	0.438000													108	300					0	0	0.014410	0	0
BRINP3	339479	broad.mit.edu	37	1	190195259	190195259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:190195259C>T	ENST00000367462.3	-	6	1145	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	FAM5C_ENST00000534846.1_Missense_Mutation_p.R203Q|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		305						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCAGTTATTCGAAGAAGATT	0.373000													11	25					0	0	0.013537	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151363	89151363	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:89151363C>T	ENST00000408703.1	+	0	26					NR_031590.1																						AGCATTCTTTCATTGGTTGGT	0.388000													86	190					0	0	0.014410	0	0
KIAA1407	57577	broad.mit.edu	37	3	113729778	113729778	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:113729778C>T	ENST00000295878.3	-	9	1400	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	KIAA1407_ENST00000545063.1_Silent_p.L249L	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	418										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTCTCTCTTCAGGAGCTCGG	0.498000													62	85					0	0	0.014410	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339612	13339612	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:13339612G>A	ENST00000602906.1	+	0	963																				kidney(3)|lung(1)	4						AGCAAGTATGGAAGCGGGACT	0.483000													8	21					0	0	0.003080	0	0
CSMD2	114784	broad.mit.edu	37	1	34090118	34090118	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:34090118C>T	ENST00000373381.4	-	35	5802		c.e35+1		CSMD2_ENST00000373377.1_Splice_Site|CSMD2_ENST00000373380.1_Splice_Site|CSMD2_ENST00000373388.2_Splice_Site	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGCCCCTACCTGGATGCCA	0.657000													57	135					0	0	0.014410	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860513	43860513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:43860513G>A	ENST00000389420.3	-	9	1308	c.1309C>T	c.(1309-1311)Cac>Tac	p.H437Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H437Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	437	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGACTCATGTGAAAACTTAAA	0.308000													22	80					0	0	0.003330	0	0
CLDN3	1365	broad.mit.edu	37	7	73184241	73184241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:73184241C>T	ENST00000395145.2	-	1	359	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	47					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CACAGGCCCTCCCAGATGTTC	0.647000													25	61					0	0	0.007291	0	0
SV2B	9899	broad.mit.edu	37	15	91803600	91803600	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:91803600C>T	ENST00000394232.1	+	6	1439	c.969C>T	c.(967-969)acC>acT	p.T323T	SV2B_ENST00000545111.2_Silent_p.T172T|SV2B_ENST00000330276.4_Silent_p.T323T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	323					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCCATGACACCAACATGAGAG	0.473000													49	135					0	0	0.014410	0	0
LBR	3930	broad.mit.edu	37	1	225592349	225592349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:225592349G>A	ENST00000338179.2	-	12	1668	c.1543C>T	c.(1543-1545)Ccc>Tcc	p.P515S	LBR_ENST00000272163.4_Missense_Mutation_p.P515S	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	515					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGATCACTGGGATTTTTCCGG	0.279000													18	61					0	0	0.006122	0	0
MORC2	22880	broad.mit.edu	37	22	31331110	31331110	+	Silent	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:31331110A>C	ENST00000215862.4	-	20	3028	c.1665T>G	c.(1663-1665)ccT>ccG	p.P555P	MORC2_ENST00000397641.2_Silent_p.P617P	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	617							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGCAGGTAAAGGGGGCGACC	0.572000													15	55					0	0	0.002450	0	0
KIF21B	23046	broad.mit.edu	37	1	200960046	200960046	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200960046G>A	ENST00000332129.2	-	18	3002	c.2687_splice	c.e18+1	p.R896_splice	KIF21B_ENST00000360529.5_Splice_Site_p.R896_splice|KIF21B_ENST00000461742.2_Splice_Site_p.R896_splice|KIF21B_ENST00000422435.2_Splice_Site_p.R896_splice	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	896					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R896R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACCTTACCGGGCAGGACGG	0.647000													61	115					0	0	0.014410	0	0
PHF8	23133	broad.mit.edu	37	X	54037565	54037565	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:54037565G>A	ENST00000338154.6	-	8	1440	c.936C>T	c.(934-936)ttC>ttT	p.F312F	PHF8_ENST00000357988.5_Silent_p.F348F|PHF8_ENST00000338946.6_Silent_p.F312F|PHF8_ENST00000322659.8_Silent_p.F312F	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	348	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTGTGGGAATGAAAAGTGTCT	0.498000													28	35					0	0	0.008361	0	0
PDE1A	5136	broad.mit.edu	37	2	183051210	183051210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:183051210G>A	ENST00000435564.1	-	12	1561	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	PDE1A_ENST00000410103.1_Missense_Mutation_p.S454F|PDE1A_ENST00000351439.5_Missense_Mutation_p.S438F|PDE1A_ENST00000346717.4_Missense_Mutation_p.S420F|PDE1A_ENST00000409365.1_Missense_Mutation_p.S438F|PDE1A_ENST00000536095.1_Missense_Mutation_p.S350F|PDE1A_ENST00000358139.2_Missense_Mutation_p.S454F|PDE1A_ENST00000331935.6_Missense_Mutation_p.S454F|PDE1A_ENST00000456212.1_Missense_Mutation_p.S454F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	454	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TGCCACATAGGAAGAAGTTTC	0.338000													5	33					0	0	0.001168	0	0
AP3B2	8120	broad.mit.edu	37	15	83335593	83335593	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:83335593G>A	ENST00000261722.3	-	15	1965	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	AP3B2_ENST00000535359.1_Silent_p.I586I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.I554I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	586					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGAAGGGACGATGAGCTGCC	0.587000													66	140					0	0	0.014410	0	0
SMAD9	4093	broad.mit.edu	37	13	37453547	37453547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:37453547G>A	ENST00000379826.4	-	2	622	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	SMAD9_ENST00000350148.5_Missense_Mutation_p.R94C|SMAD9_ENST00000399275.2_Missense_Mutation_p.R94C	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CGCCACACGCGACAGTAAATC	0.627000													23	54					0	0	0.003954	0	0
PUS7L	83448	broad.mit.edu	37	12	44124202	44124202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:44124202C>T	ENST00000416848.2	-	9	2571	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	PUS7L_ENST00000551923.1_Missense_Mutation_p.E695K|PUS7L_ENST00000431332.3_Missense_Mutation_p.E382K|PUS7L_ENST00000344862.5_Missense_Mutation_p.E695K	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	695					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCATTATTTCCTTCAGACAA	0.378000													14	40					0	0	0.001855	0	0
KMT2C	58508	broad.mit.edu	37	7	151874091	151874091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:151874091G>A	ENST00000355193.2	-	38	8665	c.8447C>T	c.(8446-8448)tCc>tTc	p.S2816F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S2816F					lysine (K)-specific methyltransferase 2C																		GGTAACAGTGGATTTTTTCTG	0.323000													46	103					0	0	0.013114	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657286	72657286	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:72657286G>A	ENST00000425256.1	-	0	2625					NR_002164.1																						ggccctgccaggagttttctc	0.448000													35	147					0	0	0.004289	0	0
PEAK1	79834	broad.mit.edu	37	15	77425473	77425473	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:77425473G>A	ENST00000560626.2	-	6	4426	c.3951C>T	c.(3949-3951)ctC>ctT	p.L1317L	PEAK1_ENST00000312493.4_Silent_p.L1317L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1317	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										CTCCAAAACGGAGCTGGTCTT	0.468000													22	71					0	0	0.003330	0	0
HTR1B	3351	broad.mit.edu	37	6	78172713	78172713	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:78172713G>A	ENST00000369947.2	-	1	777	c.408C>T	c.(406-408)tcC>tcT	p.S136S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	136					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTGCAGGATGGAGGCAGTGC	0.607000													27	48					0	0	0.005443	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:77401601C>T	ENST00000282849.5	-	4	933	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R172Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTTTTTCGTGTCCTTAT	0.463000													15	66					0	0	0.004007	0	0
XIST	7503	broad.mit.edu	37	X	73065804	73065804	+	RNA	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:73065804G>T	ENST00000429829.1	-	0	6784					NR_001564.2																						TTATTCAGATGGAATGGGCAA	0.463000													68	93					5.39075e-54	5.53448e-54	0.014410	1	0
ZNF418	147686	broad.mit.edu	37	19	58438668	58438668	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:58438668G>T	ENST00000396147.1	-	4	1172	c.881C>A	c.(880-882)tCt>tAt	p.S294Y	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.S294Y|ZNF418_ENST00000425570.3_Missense_Mutation_p.S315Y|ZNF418_ENST00000599852.1_Missense_Mutation_p.S209Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ATGACTAAAAGATTTCCCACA	0.428000													76	141					4.8811e-34	5.00674e-34	0.014410	1	0
CMBL	134147	broad.mit.edu	37	5	10290680	10290680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:10290680C>T	ENST00000296658.3	-	2	615	c.195G>A	c.(193-195)atG>atA	p.M65I	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	65						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TTCCTGAGATCATGTCAGCTA	0.353000													71	152					0	0	0.014410	0	0
IQSEC2	23096	broad.mit.edu	37	X	53283775	53283775	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:53283775G>A	ENST00000396435.3	-	4	1538	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	IQSEC2_ENST00000375365.2_Silent_p.S241S|IQSEC2_ENST00000375368.5_Silent_p.S436S	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	436					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						ATGTGGTGACGGAGCTTCCAC	0.577000													27	59					0	0	0.008361	0	0
PPP4R4	57718	broad.mit.edu	37	14	94741824	94741824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94741824G>A	ENST00000304338.3	+	24	2717	c.2563G>A	c.(2563-2565)Gga>Aga	p.G855R		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	855						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAAGAGCAGTGGAAGTAAAGA	0.453000													30	76					0	0	0.007291	0	0
UNC13C	440279	broad.mit.edu	37	15	54306718	54306718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:54306718G>A	ENST00000545554.1	+	1	1618	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D540N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D540N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCACAGAGTGATTTTTTCAC	0.368000													13	47					0	0	0.003163	0	0
SAGE1	55511	broad.mit.edu	37	X	134991025	134991025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:134991025G>A	ENST00000535938.1	+	13	1611	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.A482T|SAGE1_ENST00000324447.3_Missense_Mutation_p.A482T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	482										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTTTCCAGATGCTACCATTAC	0.433000													37	56					0	0	0.006999	0	0
STK33	65975	broad.mit.edu	37	11	8474411	8474411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:8474411C>T	ENST00000447869.1	-	7	1747	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	STK33_ENST00000396672.1_Missense_Mutation_p.E277K|STK33_ENST00000396673.1_Missense_Mutation_p.E277K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.E90K|STK33_ENST00000534493.1_Missense_Mutation_p.E236K|STK33_ENST00000315204.1_Missense_Mutation_p.E277K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	277	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGCATGGCTTCACTCCTACTT	0.438000													73	138					0	0	0.014410	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666695	50666695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:50666695C>T	ENST00000371824.1	+	7	1203	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	ELAVL4_ENST00000357083.4_Missense_Mutation_p.R333C|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R319C|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R316C|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R321C|ELAVL4_ENST00000371823.4_Missense_Mutation_p.R330C|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R335C			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	330	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.R333C(1)|p.R330C(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AAAGGTGATTCGTGACTTCAA	0.542000													35	94					0	0	0.006999	0	0
PCDH8	5100	broad.mit.edu	37	13	53422434	53422434	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:53422434G>A	ENST00000377942.3	-	1	341	c.138C>T	c.(136-138)atC>atT	p.I46I	PCDH8_ENST00000338862.4_Silent_p.I46I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	46	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCAGGGTCCCGATGACCGTGC	0.602000													109	121					0	0	0.014410	0	0
PADI3	51702	broad.mit.edu	37	1	17601173	17601173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:17601173C>T	ENST00000375460.3	+	11	1239	c.1199C>T	c.(1198-1200)tCt>tTt	p.S400F		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	400					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCGACAGGTCTGTGAGTGGC	0.607000											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	72					0	0	0.012213	0	0
GPC3	2719	broad.mit.edu	37	X	132730588	132730588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:132730588C>T	ENST00000370818.3	-	7	1898	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	GPC3_ENST00000543339.1_Missense_Mutation_p.D431N|GPC3_ENST00000394299.2_Missense_Mutation_p.D508N	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)					AGGTTTTTATCCAGAACTCTA	0.448000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				42	95					0	0	0.009718	0	0
CATSPERD	257062	broad.mit.edu	37	19	5746063	5746063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:5746063C>T	ENST00000381624.3	+	9	858	c.797C>T	c.(796-798)tCc>tTc	p.S266F	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	266						integral to membrane											CTGTTGTTTTCCCATAATGCA	0.602000													72	210					0	0	0.014410	0	0
ANKS1B	56899	broad.mit.edu	37	12	99478707	99478707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:99478707G>A	ENST00000547776.2	-	16	2620	c.2621C>T	c.(2620-2622)cCa>cTa	p.P874L	ANKS1B_ENST00000550693.2_Missense_Mutation_p.P100L|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P874L|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P100L|ANKS1B_ENST00000547446.1_Missense_Mutation_p.P69L|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P450L|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P100L|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P100L|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P100L|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P100L|ANKS1B_ENST00000549025.2_Missense_Mutation_p.P43L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	874	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTCACCTTTGGAAGGAGCTG	0.413000													4	12					0	0	0.009096	0	0
GUCA1A	2978	broad.mit.edu	37	6	42141371	42141371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:42141371G>A	ENST00000394237.1	+	3	996	c.20G>A	c.(19-21)gGa>gAa	p.G7E	GUCA1A_ENST00000053469.4_Missense_Mutation_p.G7E|GUCA1A_ENST00000541991.1_Missense_Mutation_p.G7E|GUCA1A_ENST00000372958.1_Missense_Mutation_p.G7E			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	7					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGATGGAGGGAAAGTCAGTG	0.592000													26	103					0	0	0.005443	0	0
HYDIN	54768	broad.mit.edu	37	16	71025993	71025993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:71025993C>T	ENST00000393567.2	-	24	3915	c.3765G>A	c.(3763-3765)atG>atA	p.M1255I	HYDIN_ENST00000448089.2_Missense_Mutation_p.M1207I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1255										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATTTAAATCCATCTCGGGGG	0.453000													9	69					0	0	0.006214	0	0
ROCK1	6093	broad.mit.edu	37	18	18550323	18550323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:18550323G>A	ENST00000399799.1	-	23	3746	c.2806C>T	c.(2806-2808)Cac>Tac	p.H936Y		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	936	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTAACAGTGTGATCTTTATCT	0.368000													33	36					0	0	0.004878	0	0
H3F3C	440093	broad.mit.edu	37	12	31944699	31944699	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:31944699T>A	ENST00000340398.3	-	1	476	c.402A>T	c.(400-402)agA>agT	p.R134S		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	134					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TCACTTAAGCTCTCTCTCCCC	0.408000										HNSCC(67;0.2)			45	189					0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	68989631	68989631	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:68989631G>A	ENST00000288368.4	+	15	1846		c.e15-1		PREX2_ENST00000529398.1_Splice_Site	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTGGTTAACAGGGAGATTGCC	0.443000													24	55					0	0	0.003954	0	0
RPRD2	23248	broad.mit.edu	37	1	150443485	150443485	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:150443485A>G	ENST00000401000.4	+	10	2048	c.1983A>G	c.(1981-1983)ttA>ttG	p.L661L	RPRD2_ENST00000539519.1_Silent_p.L661L|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.L687L			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	687	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCTTAAACTTAAACATCCCAA	0.502000													59	113					0	0	0.014410	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935446	151935446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151935446C>T	ENST00000393902.3	-	3	1288	c.721G>A	c.(721-723)Gat>Aat	p.D241N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	241	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTTGGGATCCCCCAAGATA	0.542000													133	217					0	0	0.014410	0	0
OSBPL6	114880	broad.mit.edu	37	2	179236866	179236866	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179236866A>T	ENST00000190611.4	+	14	1677	c.1301A>T	c.(1300-1302)aAt>aTt	p.N434I	OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000315022.2_Missense_Mutation_p.N438I|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000409045.3_Missense_Mutation_p.N403I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.N459I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	434					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTCAACCAGAATGCTGAACTA	0.333000													26	62					0	0	0.008361	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749146	43749146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43749146C>T	ENST00000263801.3	-	12	1897	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	TP53BP1_ENST00000382039.3_Missense_Mutation_p.E554K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E554K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E554K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	549					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GACATGGGTTCCGTATCCTCA	0.408000								Other conserved DNA damage response genes					38	84					0	0	0.004289	0	0
MDGA1	266727	broad.mit.edu	37	6	37606422	37606422	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:37606422C>G	ENST00000434837.2	-	15	3736	c.2558G>C	c.(2557-2559)cGg>cCg	p.R853P	MDGA1_ENST00000505425.1_Missense_Mutation_p.R853P|MDGA1_ENST00000297153.7_Missense_Mutation_p.R857P	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	853	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTTCCGGGACCGCACCAGGAG	0.617000													8	31					0	0	0.003080	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838356	22838356	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:22838356C>T	ENST00000404138.1	+	12	2701	c.2190C>T	c.(2188-2190)gaC>gaT	p.D730D	ZBTB40_ENST00000375647.4_Silent_p.D730D|ZBTB40_ENST00000374651.4_Silent_p.D618D	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	730					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCTCCCCAGACCCTGCCAAGA	0.547000													12	47					0	0	0.010729	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028248	21028248	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21028248C>T	ENST00000381545.3	+	9	1026	c.807C>T	c.(805-807)tcC>tcT	p.S269S	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.S269S|SLCO1B3_ENST00000553473.1_Silent_p.S269S|SLCO1B3_ENST00000261196.2_Silent_p.S269S|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	269					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GACTATTTTCCATTATTTCTT	0.363000													39	121					0	0	0.004878	0	0
PLCH2	9651	broad.mit.edu	37	1	2419097	2419097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2419097C>T	ENST00000449969.1	+	8	1255	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	PLCH2_ENST00000378486.3_Missense_Mutation_p.S392F|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.S392F|PLCH2_ENST00000378488.3_Missense_Mutation_p.S392F|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	392	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACTCTGACTTCCAAGATCCTC	0.597000													22	60					0	0	0.014323	0	0
MAEL	84944	broad.mit.edu	37	1	166991034	166991034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:166991034C>T	ENST00000367872.4	+	12	1491	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.S385L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	416					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TGTGACACTTCACTCTCACCT	0.413000													33	66					0	0	0.012213	0	0
PLCB4	5332	broad.mit.edu	37	20	9457375	9457375	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9457375C>T	ENST00000378501.2	+	35	3486	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S	PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000334005.3_Silent_p.S1157S|PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	490					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						TTTTGAAATCCTGTCATGCAG	0.368000													8	33					0	0	0.003080	0	0
BRAT1	221927	broad.mit.edu	37	7	2579448	2579448	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:2579448G>A	ENST00000340611.4	-	11	1726	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	490					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGAGGGGGCCGAGATCAGAGC	0.652000													4	40					0	0	0.000602	0	0
CR1	1378	broad.mit.edu	37	1	207758069	207758069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207758069G>A	ENST00000367049.4	+	33	5378	c.5378G>A	c.(5377-5379)gGa>gAa	p.G1793E	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.G1343E|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.G1343E|CR1_ENST00000367051.1_Missense_Mutation_p.G1343E|CR1_ENST00000367052.1_Missense_Mutation_p.G1343E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1343	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTCCCTATGGAAAAGAAATA	0.473000													57	115					0	0	0.014410	0	0
KRT71	112802	broad.mit.edu	37	12	52943127	52943127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52943127C>T	ENST00000267119.5	-	3	736	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	223	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TTGTTGATTTCCTCCTCATAC	0.572000													54	220					0	0	0.014410	0	0
ZNF135	7694	broad.mit.edu	37	19	58579314	58579314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:58579314C>T	ENST00000506786.1	+	5	1890	c.1336C>T	c.(1336-1338)Cac>Tac	p.H446Y	ZNF135_ENST00000439855.2_Missense_Mutation_p.H488Y|ZNF135_ENST00000401053.4_Missense_Mutation_p.H512Y|ZNF135_ENST00000313434.5_Missense_Mutation_p.H488Y|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.H500Y			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	500					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGCGAATCCACACAGGGGA	0.572000													15	43					0	0	0.003163	0	0
DNAJC21	134218	broad.mit.edu	37	5	34936318	34936318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:34936318G>A	ENST00000382021.2	+	4	612	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E129K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E129K	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	129					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGTGTTAGAGGAAGAGGTTGA	0.328000													59	184					0	0	0.014410	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066861	40066861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:40066861C>T	ENST00000336649.4	+	29	4459	c.4459C>T	c.(4459-4461)Cac>Tac	p.H1487Y	CACNA1I_ENST00000404898.1_Missense_Mutation_p.H1446Y|CACNA1I_ENST00000402142.3_Missense_Mutation_p.H1481Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H1446Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H1481Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.H1446Y			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1481					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCTCATCCACTCCATGTG	0.587000													66	273					0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	38976621	38976621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:38976621C>T	ENST00000355481.4	+	34	5457	c.5326C>T	c.(5326-5328)Cat>Tat	p.H1776Y	RYR1_ENST00000360985.3_Missense_Mutation_p.H1776Y|RYR1_ENST00000359596.3_Missense_Mutation_p.H1776Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1776	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCCCGCATCATTTCTCGCC	0.687000													46	50					0	0	0.014410	0	0
SOCS5	9655	broad.mit.edu	37	2	46987134	46987134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:46987134C>T	ENST00000306503.5	+	2	1637	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	SOCS5_ENST00000394861.2_Missense_Mutation_p.R489C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	489	SOCS box.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GTATATCTGTCGCGCGGTAAT	0.373000													23	65					0	0	0.002780	0	0
CNGB3	54714	broad.mit.edu	37	8	87683207	87683207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:87683207C>T	ENST00000320005.5	-	4	505	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	153					signal transduction|visual perception	integral to membrane	cGMP binding	p.G153V(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGAGAGATCTCCCTCTACCAA	0.493000													63	215					0	0	0.014410	0	0
APOB	338	broad.mit.edu	37	2	21229889	21229889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:21229889G>A	ENST00000233242.1	-	26	9978	c.9851C>T	c.(9850-9852)tCc>tTc	p.S3284F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3284					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACCTAGGATGGAGAAACTAGG	0.458000													49	59					0	0	0.014410	0	0
TUSC2	11334	broad.mit.edu	37	3	50363596	50363596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50363596G>A	ENST00000232496.4	-	3	432	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	TUSC2_ENST00000462137.1_Intron	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2	97					cell cycle|cell proliferation|cell-cell signaling		protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGATGCGGGGGTGATCCAGC	0.592000													8	14					0	0	0.006214	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808729	18808729	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18808729C>T	ENST00000400664.1	+	1	1306	c.1254C>T	c.(1252-1254)atC>atT	p.I418I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	418						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCCATATCCCGCTCACCC	0.652000													51	83					0	0	0.014410	0	0
FAN1	22909	broad.mit.edu	37	15	31196961	31196961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:31196961C>T	ENST00000362065.4	+	2	386	c.95C>T	c.(94-96)tCg>tTg	p.S32L	FAN1_ENST00000565466.1_Missense_Mutation_p.S32L|FAN1_ENST00000561607.1_Missense_Mutation_p.S32L|FAN1_ENST00000561594.1_Missense_Mutation_p.S32L	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	32					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCTATTATTTCGTGTTTTAAC	0.398000								Direct reversal of damage					50	115					0	0	0.014410	0	0
SPG11	80208	broad.mit.edu	37	15	44887479	44887479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:44887479C>T	ENST00000261866.7	-	26	4629	c.4613G>A	c.(4612-4614)aGa>aAa	p.R1538K	SPG11_ENST00000558319.1_Missense_Mutation_p.R1538K|SPG11_ENST00000535302.2_Missense_Mutation_p.R1538K|SPG11_ENST00000427534.2_Missense_Mutation_p.R1538K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1538					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGGAAACCTCTGATGAGAGT	0.393000													27	89					0	0	0.006320	0	0
RIT1	6016	broad.mit.edu	37	1	155874197	155874197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:155874197G>A	ENST00000368323.3	-	5	538	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	RIT1_ENST00000539040.1_Missense_Mutation_p.R76C|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.R129C	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	112					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.R112C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TTAAACTCACGAACTTCATGG	0.463000													43	66					0	0	0.010771	0	0
TMTC4	84899	broad.mit.edu	37	13	101287406	101287406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:101287406G>A	ENST00000342624.5	-	11	1504	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	TMTC4_ENST00000376234.3_Missense_Mutation_p.P397S|TMTC4_ENST00000328767.5_Missense_Mutation_p.P286S|TMTC4_ENST00000462211.1_5'UTR	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	397						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTACTCGCGGGGAGAAATGGG	0.488000													23	17					0	0	0.003330	0	0
BEND2	139105	broad.mit.edu	37	X	18234812	18234812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:18234812C>T	ENST00000380033.4	-	2	199	c.67G>A	c.(67-69)Gat>Aat	p.D23N	BEND2_ENST00000380030.3_Missense_Mutation_p.D23N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	23										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATACTGCAATCATTGTTATCA	0.338000													27	43					0	0	0.003954	0	0
IFNA7	3444	broad.mit.edu	37	9	21201635	21201635	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:21201635A>G	ENST00000239347.3	-	1	569	c.530T>C	c.(529-531)tTt>tCt	p.F177S		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	177					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTTTGTTGAAAAAGAGAAGGA	0.373000													65	222					0	0	0.014410	0	0
ETNK1	55500	broad.mit.edu	37	12	22811976	22811976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:22811976C>T	ENST00000266517.4	+	3	801	c.712C>T	c.(712-714)Cat>Tat	p.H238Y		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	238				RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).	phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTAAAATCCATGCTATTCA	0.378000													14	42					0	0	0.004007	0	0
NBEAP1	606	broad.mit.edu	37	15	20874833	20874833	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:20874833G>A	ENST00000556948.1	-	0	415																											CTGTCAGCAGGATTAATAACC	0.343000													12	104					0	0	0.013537	0	0
TMEM184B	25829	broad.mit.edu	37	22	38627283	38627283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38627283G>A	ENST00000361906.3	-	4	624	c.416C>T	c.(415-417)tCc>tTc	p.S139F	TMEM184B_ENST00000464059.1_5'UTR|TMEM184B_ENST00000361684.4_Missense_Mutation_p.S139F	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	139						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CGACATGATGGAACTTTCTCC	0.507000													133	230					0	0	0.014410	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263676	140263676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140263676C>T	ENST00000289272.2	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S608L|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAATTG	0.682000													74	126					0	0	0.014410	0	0
SVOPL	136306	broad.mit.edu	37	7	138312185	138312185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:138312185C>T	ENST00000421622.1	-	8	939	c.731G>A	c.(730-732)gGc>gAc	p.G244D	SVOPL_ENST00000288513.5_Missense_Mutation_p.G212D|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000419765.3_Missense_Mutation_p.G364D|SVOPL_ENST00000436657.1_Missense_Mutation_p.G212D			Q8N434	SVOPL_HUMAN	SVOP-like	364						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GAAATTGATGCCCAGTATATT	0.418000													11	53					0	0	0.001855	0	0
ANXA10	11199	broad.mit.edu	37	4	169049279	169049279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:169049279G>A	ENST00000359299.3	+	2	249	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	21							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ATCCCATAATGGATGCCCAAA	0.363000													21	22					0	0	0.003330	0	0
PLCB1	23236	broad.mit.edu	37	20	8665694	8665694	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8665694C>T	ENST00000378641.3	+	10	1453	c.978C>T	c.(976-978)ttC>ttT	p.F326F	PLCB1_ENST00000378637.2_Silent_p.F326F|PLCB1_ENST00000338037.6_Silent_p.F326F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	326	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCACTATTTCATTAATTCCT	0.413000													81	223					0	0	0.014410	0	0
COL5A3	50509	broad.mit.edu	37	19	10081882	10081882	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10081882G>A	ENST00000264828.3	-	52	3912	c.3828_splice	c.e52+1	p.S1276_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1276	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACACTCACTGAAACTCCAGG	0.542000													14	57					0	0	0.007413	0	0
NALCN	259232	broad.mit.edu	37	13	101755619	101755619	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:101755619G>A	ENST00000251127.6	-	26	3042	c.2961C>T	c.(2959-2961)gtC>gtT	p.V987V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	987						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)					GGCACCGAAGGACCATTAGAA	0.443000													61	36					0	0	0.014410	0	0
SYNE2	23224	broad.mit.edu	37	14	64593101	64593101	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:64593101C>T	ENST00000357395.3	+	73	13910	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.F1171F|SYNE2_ENST00000394768.2_Silent_p.F922F|SYNE2_ENST00000358025.3_Silent_p.F4537F|SYNE2_ENST00000554584.1_Silent_p.F4488F|SYNE2_ENST00000344113.4_Silent_p.F4537F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4537					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGAACTATTCCTGACCCTCA	0.418000													25	46					0	0	0.005443	0	0
CCDC39	339829	broad.mit.edu	37	3	180359974	180359974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:180359974C>T	ENST00000273654.4	-	19	2552	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N	CCDC39_ENST00000442201.2_Missense_Mutation_p.D561N			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	561					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAAGATTGTCCTCTATCATC	0.284000													8	30					0	0	0.003080	0	0
STYK1	55359	broad.mit.edu	37	12	10787204	10787204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:10787204C>T	ENST00000075503.3	-	3	534	c.14G>A	c.(13-15)cGg>cAg	p.R5Q		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	5						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CAGGAGCATCCGTGTCATGCC	0.488000										HNSCC(73;0.22)			14	71					0	0	0.004007	0	0
NKD1	85407	broad.mit.edu	37	16	50667136	50667136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:50667136C>T	ENST00000268459.3	+	10	1081	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCAGAACTGCCCCCCCGCACC	0.602000													24	116					0	0	0.014323	0	0
CRLF1	9244	broad.mit.edu	37	19	18705159	18705159	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18705159G>T	ENST00000392386.3	-	7	1303	c.1110C>A	c.(1108-1110)ttC>ttA	p.F370L	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	370					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCCAGCCCAGGAACTGCTTGA	0.711000													31	39					1.08312e-15	1.10571e-15	0.009535	1	0
HELZ2	85441	broad.mit.edu	37	20	62195150	62195150	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:62195150G>A	ENST00000467148.1	-	8	5094	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I	HELZ2_ENST00000427522.2_Silent_p.I1106I	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGTACCTGCGGATGGGCGAGG	0.701000													10	25					0	0	0.010729	0	0
CD300C	10871	broad.mit.edu	37	17	72539092	72539092	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72539092G>A	ENST00000330793.1	-	3	795	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	145	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGGTGCCCATGGAGCTCTGGG	0.622000													47	120					0	0	0.014410	0	0
BRINP3	339479	broad.mit.edu	37	1	190423983	190423983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:190423983G>A	ENST00000367462.3	-	2	269	c.38C>T	c.(37-39)tCt>tTt	p.S13F	FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		13						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCCATCAGAGAGAACAATTC	0.498000													15	42					0	0	0.007413	0	0
ENAM	10117	broad.mit.edu	37	4	71509961	71509961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:71509961G>A	ENST00000396073.3	+	9	3099	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	940					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGAGAAGAGGGAAAGCCAAAA	0.458000													27	60					0	0	0.005443	0	0
CFHR4	10877	broad.mit.edu	37	1	196876504	196876504	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:196876504C>T	ENST00000367416.2	+	5	809	c.672C>T	c.(670-672)ttC>ttT	p.F224F	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.F224F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CCACGTCCTTCCCGCAAAAAG	0.408000													36	42					0	0	0.004289	0	0
CR1	1378	broad.mit.edu	37	1	207789919	207789919	+	Splice_Site	SNP	G	G	A	rs55638044		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207789919G>A	ENST00000367049.4	+	41	6661		c.e41-1		CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000400960.2_Splice_Site|CR1_ENST00000367051.1_Splice_Site|CR1_ENST00000367052.1_Splice_Site	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)						complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCTTTCTAGAAATCTTTTG	0.358000													58	117					0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32010301	32010301	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32010301G>A	ENST00000375244.3	-	40	12342	c.12141C>T	c.(12139-12141)ttC>ttT	p.F4047F	TNXB_ENST00000375247.2_Silent_p.F4045F|TNXB_ENST00000451343.1_Silent_p.F476F			P22105	TENX_HUMAN	tenascin XB	4092	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCCGTTGAGGAAGATGGTGC	0.662000													62	205					0	0	0.014410	0	0
PTPRF	5792	broad.mit.edu	37	1	44084328	44084328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:44084328C>T	ENST00000359947.4	+	26	4739	c.4399C>T	c.(4399-4401)Cgt>Tgt	p.R1467C	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1458C|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1458C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1467C|PTPRF_ENST00000422171.2_Missense_Mutation_p.R826C|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1467	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGCCAGCCCGTGGCACCGA	0.597000													65	155					0	0	0.014410	0	0
ENAM	10117	broad.mit.edu	37	4	71500027	71500027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:71500027G>A	ENST00000396073.3	+	6	494	c.213G>A	c.(211-213)atG>atA	p.M71I		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	71					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCTTTCAGATGGCACACCTGG	0.493000													25	163					0	0	0.005443	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:43762387C>T	ENST00000244293.7	-	4	997	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000596730.1_Missense_Mutation_p.E218K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K|PSG9_ENST00000418820.2_Missense_Mutation_p.E311K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K|PSG9_ENST00000593948.1_Missense_Mutation_p.E311K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	404	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000													104	170					0	0	0.014410	0	0
ABCA1	19	broad.mit.edu	37	9	107568612	107568612	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107568612G>A	ENST00000374736.3	-	31	4768	c.4374C>T	c.(4372-4374)aaC>aaT	p.N1458N		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1458					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGTGAAGGGTTCTGCATTG	0.592000													27	58					0	0	0.003954	0	0
SSX6	280657	broad.mit.edu	37	X	47979002	47979002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:47979002G>A	ENST00000319275.3	+	7	625	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	SSX6_ENST00000376932.2_Missense_Mutation_p.E185K																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						CGACCCTGAGGAAGATGACAA	0.493000													181	297					0	0	0.014410	0	0
LRWD1	222229	broad.mit.edu	37	7	102113410	102113410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:102113410G>A	ENST00000292616.5	+	15	2010	c.1858G>A	c.(1858-1860)Gtg>Atg	p.V620M		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	620					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAAGACCATGGTGAACACAGT	0.632000													49	134					0	0	0.014410	0	0
OR13C9	286362	broad.mit.edu	37	9	107380314	107380314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107380314G>A	ENST00000259362.1	-	1	171	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AAGTACATAGGGGTGTGAAGG	0.443000													26	68					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9065098	9065098	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9065098T>C	ENST00000397910.4	-	3	22551	c.22348A>G	c.(22348-22350)Agt>Ggt	p.S7450G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7452	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						CTGCTCAAACTTGGAGGTGAA	0.483000													37	110					0	0	0.006999	0	0
CCR9	10803	broad.mit.edu	37	3	45943267	45943267	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:45943267G>A	ENST00000357632.2	+	3	1167	c.987G>A	c.(985-987)gtG>gtA	p.V329V	LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.V317V|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000355983.2_Silent_p.V317V|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	329					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGATCTCGTGAAAACCCTGA	0.512000													32	85					0	0	0.013726	0	0
DOCK3	1795	broad.mit.edu	37	3	51196700	51196700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:51196700G>A	ENST00000266037.9	+	11	877	c.854G>A	c.(853-855)aGa>aAa	p.R285K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	285						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATATGAAGAGAGATTTGTAT	0.358000													67	92					0	0	0.014410	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956034	18956034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:18956034G>A	ENST00000302797.3	-	1	522	c.298C>T	c.(298-300)Cct>Tct	p.P100S	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	100					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCATCACAGGATAGAGGATT	0.537000													68	284					0	0	0.014410	0	0
HEG1	57493	broad.mit.edu	37	3	124732623	124732623	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124732623G>A	ENST00000311127.4	-	6	1867	c.1800C>T	c.(1798-1800)tcC>tcT	p.S600S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	600	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CATGAAAAAAGGAGGAATACT	0.413000													31	72					0	0	0.008361	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167266	130167266	+	Silent	SNP	C	C	T	rs144432732	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:130167266C>T	ENST00000373371.3	+	8	1235	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Silent_p.I382I|SLC2A8_ENST00000373352.1_Silent_p.I119I	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	382						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCCTCTTCATCGCCGGTAAGG	0.701000													33	84					0	0	0.003755	0	0
NLRP13	126204	broad.mit.edu	37	19	56424166	56424166	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56424166G>A	ENST00000588751.1	-	5	1041	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	NLRP13_ENST00000342929.3_Silent_p.L339L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	339	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGTCACTGGGAGCTCCTGGT	0.453000													37	60					0	0	0.005524	0	0
VASN	114990	broad.mit.edu	37	16	4431686	4431686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:4431686G>A	ENST00000304735.3	+	2	963	c.808G>A	c.(808-810)Gat>Aat	p.D270N	CORO7_ENST00000574025.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	270						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						GCAGGAGCTGGATGTGAGCAA	0.726000													10	25					0	0	0.008291	0	0
MYOM3	127294	broad.mit.edu	37	1	24400740	24400740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:24400740C>T	ENST00000330966.7	-	23	3043	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.E960K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E960K			Q5VTT5	MYOM3_HUMAN	myomesin 3	960										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)		AGGCCGGGTTCTTTCAGGATG	0.582000													47	124					0	0	0.014410	0	0
ANGPT1	284	broad.mit.edu	37	8	108264161	108264161	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:108264161C>T	ENST00000520734.1	-	8	1104	c.819G>A	c.(817-819)ggG>ggA	p.G273G	ANGPT1_ENST00000520052.1_Silent_p.G272G|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	473					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCCACTTTATCCCATTCAGTT	0.408000													37	84					0	0	0.006230	0	0
LY9	4063	broad.mit.edu	37	1	160766091	160766091	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160766091C>T	ENST00000263285.5	+	1	144	c.114C>T	c.(112-114)ttC>ttT	p.F38F	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Silent_p.F38F|LY9_ENST00000341032.4_Silent_p.F38F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_5'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	38					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCTCCTCTTCCTGCTCATGG	0.493000													134	213					0	0	0.014410	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885827	88885827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:88885827G>A	ENST00000319675.3	-	1	469	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	125								p.R125W(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCACCTTCCGATTAGGGACG	0.557000													28	101					0	0	0.008361	0	0
ANK3	288	broad.mit.edu	37	10	61831431	61831431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:61831431G>A	ENST00000280772.1	-	37	9399	c.9208C>T	c.(9208-9210)Ccc>Tcc	p.P3070S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3070					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCATCAATGGGACTGTGGTCG	0.463000													46	70					0	0	0.014410	0	0
CACNA1C	775	broad.mit.edu	37	12	2621981	2621981	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:2621981G>A	ENST00000399655.1	+	9	1486	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	CACNA1C_ENST00000399597.1_Silent_p.E407E|CACNA1C_ENST00000399621.1_Silent_p.E407E|CACNA1C_ENST00000327702.7_Silent_p.E407E|CACNA1C_ENST00000347598.4_Silent_p.E407E|CACNA1C_ENST00000399641.1_Silent_p.E407E|CACNA1C_ENST00000399634.1_Silent_p.E407E|CACNA1C_ENST00000399591.1_Silent_p.E407E|CACNA1C_ENST00000399606.1_Silent_p.E407E|CACNA1C_ENST00000399595.1_Silent_p.E407E|CACNA1C_ENST00000399638.1_Silent_p.E407E|CACNA1C_ENST00000399603.1_Silent_p.E407E|CACNA1C_ENST00000402845.3_Silent_p.E407E|CACNA1C_ENST00000480911.1_Silent_p.E407E|CACNA1C_ENST00000399601.1_Silent_p.E407E|CACNA1C_ENST00000335762.5_Silent_p.E407E|CACNA1C_ENST00000399649.1_Silent_p.E407E|CACNA1C_ENST00000399644.1_Silent_p.E407E|CACNA1C_ENST00000399637.1_Silent_p.E407E|CACNA1C_ENST00000399629.1_Silent_p.E407E|CACNA1C_ENST00000406454.3_Silent_p.E407E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399617.1_Silent_p.E407E|CACNA1C_ENST00000344100.3_Silent_p.E407E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	407					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCACCAGAGAGTTTTCCAAAG	0.562000													8	22					0	0	0.003080	0	0
FMO1	2326	broad.mit.edu	37	1	171251419	171251419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171251419C>T	ENST00000354841.4	+	6	1261	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	FMO1_ENST00000402921.2_Missense_Mutation_p.S314F|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.S377F			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	377					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCTTGGGCTCCATGATACCT	0.478000													17	84					0	0	0.007413	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869676	50869676	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:50869676C>T	ENST00000359139.3	+	11	1594	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	PPP6R2_ENST00000395741.3_Silent_p.S401S|PPP6R2_ENST00000395744.3_Silent_p.S400S|PPP6R2_ENST00000216061.5_Silent_p.S400S	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	400						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTATTCTCTCCCACGCTGCCC	0.557000													189	294					0	0	0.014410	0	0
SORCS3	22986	broad.mit.edu	37	10	107005328	107005328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:107005328C>T	ENST00000369701.3	+	21	3124	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	966						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)		AGCAGCATTTCCTTCACATTC	0.448000													59	81					0	0	0.014410	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999393	112999393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:112999393C>T	ENST00000271277.6	+	6	1504	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	427						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACATCCTCTCCTTGCTCTTC	0.557000													139	725					0	0	0.014410	0	0
OR4K2	390431	broad.mit.edu	37	14	20345023	20345023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20345023G>A	ENST00000298642.2	+	1	633	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTCTTTATGATCTCAACAA	0.403000													91	372					0	0	0.014410	0	0
TYR	7299	broad.mit.edu	37	11	88911834	88911834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:88911834G>A	ENST00000263321.5	+	1	1215	c.713G>A	c.(712-714)tGg>tAg	p.W238*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	238					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TATTGGGACTGGCGGGATGCA	0.473000													53	55					0	0	0.014410	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189193	7189193	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7189193A>G	ENST00000317370.8	+	10	1560	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	SLC2A4_ENST00000424875.2_Missense_Mutation_p.N421S|SLC2A4_ENST00000571308.1_Missense_Mutation_p.N431S	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	431					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGGACGAGCAACTTCATCATT	0.637000													39	51					0	0	0.008740	0	0
SLC22A4	6583	broad.mit.edu	37	5	131647922	131647922	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:131647922C>T	ENST00000200652.3	+	2	636	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLC22A4_ENST00000491257.1_3'UTR|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	154					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TAGGCGTGCTCCTCGGCTCCT	0.597000													72	86					0	0	0.014410	0	0
WDR27	253769	broad.mit.edu	37	6	170002355	170002355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:170002355G>A	ENST00000333572.6	-	23	2903	c.2384C>T	c.(2383-2385)cCt>cTt	p.P795L	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.P795L|WDR27_ENST00000423258.1_Missense_Mutation_p.P668L			A2RRH5	WDR27_HUMAN	WD repeat domain 27	765										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TCGTCCACAAGGACTGAAAGC	0.483000													3	5					0	0	0.009096	0	0
SI	6476	broad.mit.edu	37	3	164735827	164735827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164735827G>A	ENST00000264382.3	-	29	3513	c.3451C>T	c.(3451-3453)Ccc>Tcc	p.P1151S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1151	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGTAATAGGGATGAAATCCA	0.313000										HNSCC(35;0.089)			11	46					0	0	0.013537	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353911	77353911	+	Silent	SNP	G	G	A	rs145904992		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:77353911G>A	ENST00000282849.5	-	16	2785	c.2367C>T	c.(2365-2367)ctC>ctT	p.L789L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	789	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCGAACTGCGAGGTAACTGG	0.537000													16	35					0	0	0.003163	0	0
ATG9B	285973	broad.mit.edu	37	7	150721147	150721147	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:150721147G>A	ENST00000605938.1	-	1	439	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.L122L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Silent_p.L122L	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	122	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGGGGCCAGGGGTGGGGTG	0.647000													9	26					0	0	0.004482	0	0
FAT1	2195	broad.mit.edu	37	4	187517878	187517878	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:187517878G>A	ENST00000441802.2	-	25	13025	c.12816C>T	c.(12814-12816)tcC>tcT	p.S4272S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4272					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCTTCGAAGGAATTTCGGT	0.532000										HNSCC(5;0.00058)			13	49					0	0	0.003163	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679415	45679415	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45679415G>A	ENST00000270172.3	-	5	732	c.249C>T	c.(247-249)gcC>gcT	p.A83A	DNMT3L_ENST00000418993.1_Silent_p.A83A	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	83	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		ACAGGAAGAGGGCATCCAGGA	0.592000													44	108					0	0	0.014410	0	0
OR10G7	390265	broad.mit.edu	37	11	123909203	123909203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:123909203C>T	ENST00000330487.5	-	1	514	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGTTGGGTCCACAGTAGGG	0.557000													78	127					0	0	0.014410	0	0
DDX27	55661	broad.mit.edu	37	20	47850127	47850127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:47850127C>T	ENST00000371764.4	+	11	1256	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	416	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTTCTGTCTCCTTGAAGAAT	0.542000													102	249					0	0	0.014410	0	0
EYA4	2070	broad.mit.edu	37	6	133767775	133767775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:133767775G>A	ENST00000367895.5	+	4	555	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	EYA4_ENST00000525849.1_Missense_Mutation_p.E31K|EYA4_ENST00000355167.3_Missense_Mutation_p.E31K|EYA4_ENST00000355286.6_Missense_Mutation_p.E31K|EYA4_ENST00000430974.2_Missense_Mutation_p.E31K|EYA4_ENST00000452339.2_Missense_Mutation_p.E31K|EYA4_ENST00000431403.2_Missense_Mutation_p.E31K|EYA4_ENST00000531901.1_Missense_Mutation_p.E31K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	31					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGGTCTATGGAAATGCAGGA	0.398000													35	51					0	0	0.005524	0	0
CHI3L1	1116	broad.mit.edu	37	1	203152895	203152895	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203152895G>A	ENST00000255409.3	-	5	464	c.339C>T	c.(337-339)acC>acT	p.T113T		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	113					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GGCGACTCTGGGTGTTGGAGG	0.552000													40	117					0	0	0.014410	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216338	4216338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4216338C>T	ENST00000600132.1	+	17	1604	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000318934.4_Missense_Mutation_p.S443L|ANKRD24_ENST00000262970.5_Missense_Mutation_p.S533L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	443										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CACCTGGCCTCGCTGCAGGAA	0.632000													5	7					0	0	0.001168	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878173	24878173	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24878173C>T	ENST00000382554.3	+	4	1491	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	391					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCAATTTCCCCTTCTGGCAGA	0.562000													17	43					0	0	0.004007	0	0
CASZ1	54897	broad.mit.edu	37	1	10725204	10725204	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:10725204C>T	ENST00000377022.3	-	5	758	c.441G>A	c.(439-441)gaG>gaA	p.E147E	CASZ1_ENST00000344008.5_Silent_p.E147E|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AATCCTTCTCCTCCAGGGCAC	0.677000													23	63					0	0	0.003330	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340052	42340052	+	Missense_Mutation	SNP	C	C	T	rs56366151		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:42340052C>T	ENST00000262418.6	-	3	213	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	20					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTTCATATTCCTCCTGCTCC	0.597000													16	52					0	0	0.004007	0	0
HPSE	10855	broad.mit.edu	37	4	84234441	84234441	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:84234441C>T	ENST00000405413.2	-	5	636		c.e5-1		HPSE_ENST00000513463.1_Intron|HPSE_ENST00000311412.5_Splice_Site|HPSE_ENST00000512196.1_Splice_Site	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase						carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACAGAGCTTCCTAAAAGAAAA	0.378000													25	46					0	0	0.004656	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572734	140572734	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140572734G>A	ENST00000239446.4	+	1	793	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		203	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATCGGGAGGAGCAGGGAG	0.512000													109	190					0	0	0.014410	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382381	101382381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:101382381G>A	ENST00000372780.1	+	3	798	c.579G>A	c.(577-579)tgG>tgA	p.W193*	TCEAL2_ENST00000329035.2_Nonsense_Mutation_p.W193*	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CGTTTTTGTGGATGCAAAGAA	0.463000													113	203					0	0	0.014410	0	0
ABAT	18	broad.mit.edu	37	16	8839922	8839922	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:8839922G>A	ENST00000396600.2	+	3	1073	c.135G>A	c.(133-135)ctG>ctA	p.L45L	ABAT_ENST00000268251.8_Silent_p.L45L|ABAT_ENST00000425191.2_Silent_p.L45L|ABAT_ENST00000567812.1_Silent_p.L60L|ABAT_ENST00000569156.1_Silent_p.L45L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	45					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGGCCTCTGATGAAGACGG	0.473000													12	74					0	0	0.002450	0	0
ABCB1	5243	broad.mit.edu	37	7	87179492	87179492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:87179492C>T	ENST00000265724.3	-	13	1762	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G385R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	449	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTCACCATCCCCTCTGTGGGG	0.527000													24	63					0	0	0.003330	0	0
TMEM44	93109	broad.mit.edu	37	3	194337856	194337856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:194337856G>A	ENST00000392432.2	-	7	1101	c.896C>T	c.(895-897)tCc>tTc	p.S299F	TMEM44_ENST00000473092.1_Missense_Mutation_p.S252F|TMEM44_ENST00000347147.4_Missense_Mutation_p.S252F|TMEM44_ENST00000273580.7_Missense_Mutation_p.S252F|TMEM44_ENST00000381975.3_Missense_Mutation_p.S252F	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	299						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ACGGCCGAGGGAGGTCAGGAA	0.682000													5	7					0	0	0.000602	0	0
OPRK1	4986	broad.mit.edu	37	8	54142358	54142358	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:54142358G>A	ENST00000265572.3	-	4	939	c.642C>T	c.(640-642)ttC>ttT	p.F214F	OPRK1_ENST00000520287.1_Silent_p.F214F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.F125F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	214					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CATCATCTGGGAACTGCAAGG	0.478000													17	36					0	0	0.007413	0	0
PDE4D	5144	broad.mit.edu	37	5	59284325	59284325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:59284325C>T	ENST00000502484.2	-	3	485	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	PDE4D_ENST00000546160.1_Missense_Mutation_p.E88K	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCACTGGATTCTGCAGAAGTG	0.443000													23	21					0	0	0.014323	0	0
SSX7	280658	broad.mit.edu	37	X	52681979	52681979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:52681979G>A	ENST00000298181.5	-	3	283	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTTCTCCAAGGATTTCATCTT	0.378000													41	78					0	0	0.010771	0	0
C3	718	broad.mit.edu	37	19	6690727	6690727	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6690727C>T	ENST00000245907.6	-	27	3494	c.3402G>A	c.(3400-3402)cgG>cgA	p.R1134R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1134					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGTTGTTGTTCCGTAATCCAC	0.537000													16	44					0	0	0.003163	0	0
CSE1L	1434	broad.mit.edu	37	20	47686748	47686748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:47686748C>T	ENST00000262982.2	+	8	805	c.682C>T	c.(682-684)Cct>Tct	p.P228S	CSE1L_ENST00000396192.3_Missense_Mutation_p.P228S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P11S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	228					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTAGGATCTCCCTGAATTTTT	0.279000													31	98					0	0	0.009535	0	0
LRRC56	115399	broad.mit.edu	37	11	551919	551919	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:551919C>T	ENST00000270115.7	+	11	1490	c.990C>T	c.(988-990)ctC>ctT	p.L330L		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	330										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCAAGTCCTCTGTGGGAACC	0.652000													15	62					0	0	0.004990	0	0
SAGE1	55511	broad.mit.edu	37	X	134993770	134993770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:134993770G>A	ENST00000535938.1	+	18	2346	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	SAGE1_ENST00000537770.1_Missense_Mutation_p.E351K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E727K|SAGE1_ENST00000324447.3_Missense_Mutation_p.E727K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	727								p.E727*(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGGAGGAGGAGATGGAAAA	0.428000													64	88					0	0	0.014410	0	0
CFHR2	3080	broad.mit.edu	37	1	196918596	196918596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:196918596G>A	ENST00000367415.4	+	2	184	c.70G>A	c.(70-72)Gat>Aat	p.D24N	CFHR2_ENST00000367421.3_Missense_Mutation_p.D24N|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	24	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AATGTTCTGTGATTTTCCAAA	0.284000													14	43					0	0	0.003163	0	0
PVALB	5816	broad.mit.edu	37	22	37213032	37213032	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:37213032C>T	ENST00000216200.5	-	2	73	c.18G>A	c.(16-18)ttG>ttA	p.L6L	PVALB_ENST00000417718.2_Silent_p.L6L|CITF22-24E5.1_ENST00000417792.1_RNA	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	6							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						CAGCGTTCAGCAAGTCTGTCA	0.567000													25	64					0	0	0.007291	0	0
UNC13B	10497	broad.mit.edu	37	9	35399233	35399233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35399233G>A	ENST00000378495.3	+	33	4125	c.3903G>A	c.(3901-3903)atG>atA	p.M1301I	UNC13B_ENST00000396787.1_Missense_Mutation_p.M1313I|UNC13B_ENST00000378496.4_Missense_Mutation_p.M1301I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1301	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCGTGGTGATGAACACAATGG	0.562000													53	120					0	0	0.014410	0	0
KIF7	374654	broad.mit.edu	37	15	90171866	90171866	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:90171866C>T	ENST00000394412.3	-	19	3892	c.3816G>A	c.(3814-3816)ccG>ccA	p.P1272P	KIF7_ENST00000558928.1_5'UTR	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1272					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCAAGGGTAACGGAGCGTGGA	0.697000													48	94					0	0	0.014410	0	0
KRT19	3880	broad.mit.edu	37	17	39681451	39681451	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39681451G>A	ENST00000361566.3	-	2	555	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				ACTTGGTTCGGAAGTCATCTG	0.567000													68	222					0	0	0.014410	0	0
HSD17B8	7923	broad.mit.edu	37	6	33173925	33173925	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33173925C>T	ENST00000374662.3	+	7	693	c.666C>T	c.(664-666)atC>atT	p.I222I	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	222					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	CTGAAATGATCCCGATGGGAC	0.458000													34	104					0	0	0.004878	0	0
ZNF658	26149	broad.mit.edu	37	9	40772611	40772611	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:40772611C>T	ENST00000602553.1	-	5	2958	c.2664G>A	c.(2662-2664)ggG>ggA	p.G888G	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.G888G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAAAGTCTTCCCACAGTCAT	0.448000													36	107					0	0	0.014410	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804347	75804347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:75804347G>A	ENST00000550916.1	+	2	415	c.368G>A	c.(367-369)gGc>gAc	p.G123D	GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.G123D|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.G123D|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.G58D|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.G123D|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.G16D	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	123						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGTGGGTCGGCCCTGAAAAT	0.353000													15	41					0	0	0.004990	0	0
KLHL18	23276	broad.mit.edu	37	3	47361193	47361193	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:47361193C>T	ENST00000232766.5	+	2	200	c.180C>T	c.(178-180)atC>atT	p.I60I	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	60										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGCCTCGATCCCGTATTTCC	0.433000													70	231					0	0	0.014410	0	0
NRK	203447	broad.mit.edu	37	X	105150443	105150443	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:105150443G>A	ENST00000428173.2	+	11	1185	c.882G>A	c.(880-882)acG>acA	p.T294T	NRK_ENST00000243300.9_Silent_p.T294T			Q7Z2Y5	NRK_HUMAN	Nik related kinase	294	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAAAGTGTACGATAAAAAATT	0.378000										HNSCC(51;0.14)			4	5					0	0	0.009096	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908087	164908087	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164908087G>A	ENST00000475390.1	-	2	975	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SLITRK3_ENST00000241274.3_Silent_p.L178L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	178						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTTAAAATCAGAACCCTCAAT	0.388000										HNSCC(40;0.11)			69	90					0	0	0.014410	0	0
WWC1	23286	broad.mit.edu	37	5	167850906	167850906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:167850906C>T	ENST00000265293.4	+	11	2145	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	WWC1_ENST00000521089.1_Missense_Mutation_p.S548F	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	548					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCACCCTGTTCCCCTCTCATG	0.612000													55	78					0	0	0.014410	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153057	37153057	+	Missense_Mutation	SNP	G	G	A	rs149535012	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:37153057G>A	ENST00000331299.5	-	9	1329	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	SLC25A21_ENST00000555449.1_Missense_Mutation_p.P272S	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	272					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATAATCTTGGGAAGCAGGCCT	0.343000													15	54					0	0	0.006122	0	0
LRRC31	79782	broad.mit.edu	37	3	169574611	169574611	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:169574611C>A	ENST00000316428.5	-	4	594	c.537G>T	c.(535-537)tgG>tgT	p.W179C	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.W123C|LRRC31_ENST00000523069.1_Missense_Mutation_p.W179C	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	179										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTTACTGTTCCAAGACAAAT	0.423000													86	112					7.49063e-41	7.68575e-41	0.014410	1	0
TP53	7157	broad.mit.edu	37	17	7578530	7578530	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7578530A>G	ENST00000420246.2	-	5	532	c.400T>C	c.(400-402)Ttt>Ctt	p.F134L	TP53_ENST00000269305.4_Missense_Mutation_p.F134L|TP53_ENST00000413465.2_Missense_Mutation_p.F134L|TP53_ENST00000455263.2_Missense_Mutation_p.F134L|TP53_ENST00000359597.4_Missense_Mutation_p.F134L|TP53_ENST00000445888.2_Missense_Mutation_p.F134L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	134	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F134L(16)|p.F134V(12)|p.0?(8)|p.C135fs*35(5)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F2V(1)|p.F41V(1)|p.S127fs*36(1)|p.?(1)|p.Y126fs*11(1)|p.F134fs*39(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F41L(1)|p.F2L(1)|p.M133fs*13(1)|p.M40fs*36(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGTTGGCAAAACATCTTGTTG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	32					0	0	0.010504	0	0
S100PBP	64766	broad.mit.edu	37	1	33291810	33291810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:33291810C>T	ENST00000373475.5	+	3	364	c.110C>T	c.(109-111)tCc>tTc	p.S37F	S100PBP_ENST00000373476.1_Missense_Mutation_p.S37F|S100PBP_ENST00000398243.3_Missense_Mutation_p.S37F|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	37						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTGGATGACTCCTTGCTGGAG	0.478000													72	158					0	0	0.014410	0	0
HEPHL1	341208	broad.mit.edu	37	11	93819200	93819200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:93819200G>A	ENST00000315765.9	+	11	1933	c.1925G>A	c.(1924-1926)aGa>aAa	p.R642K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	642	Plastocyanin-like 4.				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)				AAAAGGGATAGAGTTTCCTGG	0.448000													22	39					0	0	0.005443	0	0
BRPF3	27154	broad.mit.edu	37	6	36179135	36179135	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:36179135C>T	ENST00000357641.6	+	7	2533	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S	BRPF3_ENST00000534400.1_Silent_p.S760S|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	760					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCATGCGGTCCAGTGGGGCCC	0.632000													20	66					0	0	0.008871	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431625	233431625	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:233431625C>T	ENST00000409514.1	+	5	504	c.462C>T	c.(460-462)gcC>gcT	p.A154A	EIF4E2_ENST00000409495.1_Silent_p.A154A|EIF4E2_ENST00000409322.1_Silent_p.A109A|EIF4E2_ENST00000258416.3_Silent_p.A154A|EIF4E2_ENST00000409394.1_Silent_p.A109A|EIF4E2_ENST00000409098.1_Silent_p.A154A|EIF4E2_ENST00000409167.3_Silent_p.A109A			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	154	EIF4EBP1/2/3 binding.				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCATTTTGGCCATGCTGGGGG	0.527000													28	96					0	0	0.009535	0	0
ISLR	3671	broad.mit.edu	37	15	74468381	74468381	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74468381G>A	ENST00000249842.3	+	2	1539	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	ISLR_ENST00000395118.1_Silent_p.G394G|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	394					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGTGCTGGGAACCCTGAGG	0.617000													27	77					0	0	0.009535	0	0
MYOCD	93649	broad.mit.edu	37	17	12656353	12656353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:12656353C>T	ENST00000425538.1	+	10	1948	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	MYOCD_ENST00000343344.4_Missense_Mutation_p.S583F|MYOCD_ENST00000395988.1_Missense_Mutation_p.S487F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	583					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTTTTGCATCCCAAGTACCT	0.517000													38	54					0	0	0.004289	0	0
OR52E4	390081	broad.mit.edu	37	11	5906312	5906312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5906312C>T	ENST00000316987.2	+	1	812	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACACATCGTTTTGGCCA	0.428000													10	58					0	0	0.006214	0	0
ACOXL	55289	broad.mit.edu	37	2	111789261	111789261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:111789261G>A	ENST00000389811.4	+	16	1653	c.1429G>A	c.(1429-1431)Gct>Act	p.A477T	ACOXL_ENST00000439055.1_Missense_Mutation_p.A447T			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	477					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.A477T(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCACCACGTGGCTTCTCTGTC	0.493000													29	63					0	0	0.012213	0	0
PRKD2	25865	broad.mit.edu	37	19	47204181	47204181	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:47204181G>A	ENST00000433867.1	-	8	1473	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PRKD2_ENST00000601806.1_Silent_p.F175F|PRKD2_ENST00000291281.4_Silent_p.F332F|PRKD2_ENST00000600194.1_Silent_p.F175F|PRKD2_ENST00000595515.1_Silent_p.F332F	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	332					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CAGCCTCGCTGAAATCGGTGG	0.637000													32	54					0	0	0.003271	0	0
SPTA1	6708	broad.mit.edu	37	1	158606460	158606460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158606460C>T	ENST00000368148.3	-	37	5461	c.5281G>A	c.(5281-5283)Gag>Aag	p.E1761K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1761K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1761					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCACCAGCTCCCCCTCTAGG	0.463000													46	100					0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	90084058	90084058	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:90084058C>T	ENST00000405460.2	+	68	13920	c.13824C>T	c.(13822-13824)ttC>ttT	p.F4608F	GPR98_ENST00000425867.2_Silent_p.F269F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4608	Calx-beta 31.				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			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)		AAGAGACATTCATTATTAAAC	0.358000													13	34					0	0	0.001855	0	0
MYOM3	127294	broad.mit.edu	37	1	24433675	24433675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:24433675C>T	ENST00000330966.7	-	4	455	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.R97Q|MYOM3_ENST00000374434.3_Missense_Mutation_p.R97Q			Q5VTT5	MYOM3_HUMAN	myomesin 3	97										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)		CTTCTGCCCTCGCTCCTCCAG	0.682000													5	24					0	0	0.000602	0	0
ZNF750	79755	broad.mit.edu	37	17	80788495	80788495	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80788495C>T	ENST00000269394.3	-	3	2528	c.1695G>A	c.(1693-1695)agG>agA	p.R565R	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.R166R|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	565						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAAGGCAGGCCTCGGAGCCT	0.622000													64	146					0	0	0.014410	0	0
FANCI	55215	broad.mit.edu	37	15	89848400	89848400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:89848400C>T	ENST00000310775.7	+	29	3199	c.3113C>T	c.(3112-3114)tCg>tTg	p.S1038L	FANCI_ENST00000300027.8_Missense_Mutation_p.S978L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1038					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTGCATGTTTCGTATAAGAGT	0.438000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				80	157					0	0	0.014410	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464316	141464316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141464316C>T	ENST00000247879.2	+	1	420	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	120					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCCCACATTCCTCTGGCTCAA	0.478000													74	177					0	0	0.014410	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892219	205892219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205892219C>T	ENST00000367135.3	-	16	1877	c.1764G>A	c.(1762-1764)atG>atA	p.M588I	SLC26A9_ENST00000367134.2_Missense_Mutation_p.M588I|SLC26A9_ENST00000340781.4_Missense_Mutation_p.M588I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	588	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)			CCTTGGTTTTCATGAATAGAG	0.542000													80	140					0	0	0.014410	0	0
BPIFA3	128861	broad.mit.edu	37	20	31814248	31814248	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:31814248C>T	ENST00000375454.3	+	5	783	c.573C>T	c.(571-573)aaC>aaT	p.N191N	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.N155N	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	191						extracellular region	lipid binding										TTCTCTACAACCTCAAAGAGA	0.428000													34	68					0	0	0.005524	0	0
DCX	1641	broad.mit.edu	37	X	110544971	110544971	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:110544971C>T	ENST00000338081.3	-	7	1441	c.1269_splice	c.e7-1	p.D424_splice	DCX_ENST00000488120.1_Splice_Site_p.D343_splice|DCX_ENST00000356220.3_Splice_Site_p.D348_splice|DCX_ENST00000371993.2_Splice_Site_p.D343_splice|DCX_ENST00000356915.2_Splice_Site_p.D348_splice	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	424					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGGTACAGGTCCTATAAGAAG	0.393000													29	39					0	0	0.012213	0	0
HERC2	8924	broad.mit.edu	37	15	28420712	28420712	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:28420712G>A	ENST00000261609.7	-	64	9885	c.9777C>T	c.(9775-9777)atC>atT	p.I3259I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3259					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.I3259I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCACATGCACGATCTTCTTCC	0.637000													24	49					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9067811	9067811	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9067811G>A	ENST00000397910.4	-	3	19838	c.19635C>T	c.(19633-19635)ccC>ccT	p.P6545P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6547	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						GGCCAGAGGTGGGGAGTGAAG	0.498000													11	27					0	0	0.010729	0	0
SSTR1	6751	broad.mit.edu	37	14	38678629	38678629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:38678629C>T	ENST00000267377.2	+	3	652	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	12					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCTCCTTCCTCCTCTCCTAGC	0.746000													4	22					0	0	0.000602	0	0
KCNK5	8645	broad.mit.edu	37	6	39158965	39158965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:39158965C>T	ENST00000359534.3	-	5	1539	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	401					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCTCGCATTCCTCGCTGATG	0.627000													30	84					0	0	0.012213	0	0
GLMN	11146	broad.mit.edu	37	1	92755792	92755792	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:92755792G>A	ENST00000370360.3	-	5	438	c.357C>T	c.(355-357)tcC>tcT	p.S119S	GLMN_ENST00000534881.1_Silent_p.S119S	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	119					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GAATACTTTGGGATATCTGTT	0.343000									Multiple Glomus Tumors (of the Skin), Familial				86	88					0	0	0.014410	0	0
PXDN	7837	broad.mit.edu	37	2	1648500	1648500	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:1648500G>A	ENST00000252804.4	-	18	3683	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1211					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.I1211I(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GAAACAGGTCGATGTTGAGTG	0.498000													14	26					0	0	0.003163	0	0
OR6Y1	391112	broad.mit.edu	37	1	158516942	158516942	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158516942C>T	ENST00000302617.3	-	1	953	c.954G>A	c.(952-954)caG>caA	p.Q318Q		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCCCATTTCCCTGGGGCCCAC	0.453000													23	62					0	0	0.014323	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140715	143140715	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143140715A>G	ENST00000332690.1	+	1	170	c.170A>G	c.(169-171)aAg>aGg	p.K57R	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	57					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCTTGTGATAAGTTATTGGTT	0.493000													31	76					0	0	0.008361	0	0
UNC13C	440279	broad.mit.edu	37	15	54841850	54841850	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:54841850C>T	ENST00000545554.1	+	27	5838	c.5838C>T	c.(5836-5838)ttC>ttT	p.F1946F	UNC13C_ENST00000260323.11_Silent_p.F1946F|UNC13C_ENST00000537900.1_Silent_p.F1944F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1946	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATGATTTTCATTGCAGCTA	0.328000													32	89					0	0	0.003755	0	0
ADCY1	107	broad.mit.edu	37	7	45726174	45726174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:45726174G>A	ENST00000297323.7	+	14	2378	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	786					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCGCAGCTACGAGCCGATTGT	0.632000													15	101					0	0	0.004990	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100514720	100514720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:100514720G>A	ENST00000268070.4	-	22	3280	c.3175C>T	c.(3175-3177)Cgg>Tgg	p.R1059W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1059	PLAC.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGGATGACCCGGCAATATACC	0.567000													56	108					0	0	0.014410	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530474	84530474	+	RNA	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:84530474C>G	ENST00000527857.1	+	0	496					NR_026851.1																						CCCTTTGTGTCCCCTTTGGCT	0.532000													10	41					0	0	0.010729	0	0
GLI2	2736	broad.mit.edu	37	2	121748242	121748242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:121748242G>A	ENST00000452319.1	+	14	4812	c.4752G>A	c.(4750-4752)atG>atA	p.M1584I	GLI2_ENST00000361492.4_Missense_Mutation_p.M1584I			P10070	GLI2_HUMAN	GLI family zinc finger 2	1584					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCTGAACATGATGACCTAGA	0.602000													45	93					0	0	0.013114	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013462	142013462	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142013462C>T	ENST00000390357.3	+	0	346																											GAAGACTCAGCCCTGTATCTC	0.572000													45	156					0	0	0.014410	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711524	45711524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:45711524C>T	ENST00000310806.4	-	4	1314	c.856G>A	c.(856-858)Gag>Aag	p.E286K	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	286					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGAGAGTCTCAGCATTAGTA	0.368000													50	114					0	0	0.014410	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591825	46591825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:46591825C>T	ENST00000398637.5	-	15	1835	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	SLC38A1_ENST00000439706.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000549049.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E381K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	381					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTAGCCAGTTCAAATAAAGAT	0.368000													17	43					0	0	0.004990	0	0
CDH12	1010	broad.mit.edu	37	5	21752268	21752268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:21752268C>T	ENST00000382254.1	-	15	3049	c.1963G>A	c.(1963-1965)Gac>Aac	p.D655N	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D615N|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.D655N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	655					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D655Y(1)|p.D655H(1)		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						ATGACGTTGTCTCTGATGTCT	0.453000										HNSCC(59;0.17)			27	47					0	0	0.003954	0	0
C16orf59	80178	broad.mit.edu	37	16	2514086	2514086	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:2514086C>T	ENST00000569496.1	+	9	1070	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	C16orf59_ENST00000563531.1_Silent_p.P337P|C16orf59_ENST00000361837.4_Silent_p.P337P|C16orf59_ENST00000483320.1_Silent_p.P170P			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	337										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGAGGCCCCCCGGAGCCTCGC	0.682000													15	48					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179447838	179447838	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179447838T>C	ENST00000589042.1	-	313	65916	c.65692A>G	c.(65692-65694)Aaa>Gaa	p.K21898E	TTN_ENST00000591111.1_Missense_Mutation_p.K20257E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K12833E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K12958E|TTN_ENST00000342992.6_Missense_Mutation_p.K19330E|TTN_ENST00000342175.6_Missense_Mutation_p.K13025E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20257	Fibronectin type-III 59.						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)			CCATCTTTTTTCCAAGAAACT	0.463000													3	15					0	0	0.000602	0	0
GPR112	139378	broad.mit.edu	37	X	135496359	135496359	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:135496359G>A	ENST00000394143.1	+	25	9369	c.9078G>A	c.(9076-9078)caG>caA	p.Q3026Q	GPR112_ENST00000412101.1_Silent_p.Q2821Q|GPR112_ENST00000394141.1_Silent_p.Q2821Q|GPR112_ENST00000370652.1_Silent_p.Q3026Q|GPR112_ENST00000287534.4_Silent_p.Q2745Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3026					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GATATAAACAGGAGGGACTAA	0.378000													47	90					0	0	0.014410	0	0
HAX1	10456	broad.mit.edu	37	1	154245239	154245239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:154245239C>T	ENST00000328703.7	+	1	253	c.40C>T	c.(40-42)Cct>Tct	p.P14S	HAX1_ENST00000457918.2_Missense_Mutation_p.P14S|HAX1_ENST00000532105.1_5'UTR|HAX1_ENST00000483970.2_Missense_Mutation_p.P14S	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	14	Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCGGCTTTCCTGGACCTCG	0.567000									Kostmann syndrome				21	110					0	0	0.012319	0	0
ANKS1B	56899	broad.mit.edu	37	12	100169344	100169344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:100169344G>A	ENST00000547776.2	-	7	942	c.943C>T	c.(943-945)Cct>Tct	p.P315S	ANKS1B_ENST00000329257.7_Missense_Mutation_p.P315S|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	315						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTGGGAAGGAGACTCAACA	0.393000													14	52					0	0	0.004990	0	0
LST3	0	broad.mit.edu	37	12	21175919	21175919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21175919C>T	ENST00000381541.3	+	5	682	c.617C>T	c.(616-618)tCc>tTc	p.S206F	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.S159F|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S206F																							GGACATTCTTCCTTGTATTTA	0.328000													12	40					0	0	0.010729	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676432	7676432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7676432C>T	ENST00000446248.2	+	12	1335	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.H385Y	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	385					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GTCCATGTCCCATATGGAGGC	0.657000													17	34					0	0	0.004990	0	0
ALX4	60529	broad.mit.edu	37	11	44297126	44297126	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:44297126C>T	ENST00000329255.3	-	2	652	c.549G>A	c.(547-549)aaG>aaA	p.K183K		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	183					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCCCAGCCTCCTTGACACTCA	0.617000													38	132					0	0	0.005524	0	0
CLEC6A	93978	broad.mit.edu	37	12	8630024	8630024	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:8630024G>A	ENST00000382073.3	+	6	780	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	198	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AAACTAGAAGGAATTCAATAT	0.378000													13	47					0	0	0.001855	0	0
IP6K3	117283	broad.mit.edu	37	6	33694681	33694681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33694681G>A	ENST00000451316.1	-	5	951	c.416C>T	c.(415-417)cCg>cTg	p.P139L	IP6K3_ENST00000293756.4_Missense_Mutation_p.P139L	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	139					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AGCCTTGGCCGGGCTGCGGCG	0.627000													54	136					0	0	0.014410	0	0
SSPO	23145	broad.mit.edu	37	7	149490419	149490419	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149490419G>A	ENST00000378016.2	+	0	5895							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCCTGTGAGGGGTGTGAGC	0.647000													21	51					0	0	0.003330	0	0
OR10K2	391107	broad.mit.edu	37	1	158389972	158389972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158389972G>A	ENST00000314902.2	-	1	684	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGTGTGGAAGGAAACTGAAGT	0.448000													25	41					0	0	0.003954	0	0
FASLG	356	broad.mit.edu	37	1	172628510	172628510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:172628510C>T	ENST00000367721.2	+	1	353	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	FASLG_ENST00000340030.3_Missense_Mutation_p.P57S	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	57	Poly-Pro.|Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						actaccacctccgccgccgcc	0.632000													19	22					0	0	0.007413	0	0
AMPD1	270	broad.mit.edu	37	1	115220063	115220063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:115220063G>A	ENST00000369538.3	-	9	1431	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	AMPD1_ENST00000353928.6_Missense_Mutation_p.P433S|AMPD1_ENST00000520113.2_Missense_Mutation_p.P466S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	433					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CACTCATCAGGACTGCGGCCA	0.567000													82	90					0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32039805	32039805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32039805C>T	ENST00000375244.3	-	13	5153	c.4952G>A	c.(4951-4953)gGg>gAg	p.G1651E	TNXB_ENST00000375247.2_Missense_Mutation_p.G1651E			P22105	TENX_HUMAN	tenascin XB	1733					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGTCGTTTCCCATCCTGGAT	0.612000													54	129					0	0	0.014410	0	0
ROBO1	6091	broad.mit.edu	37	3	78710221	78710221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:78710221C>T	ENST00000436010.2	-	14	3159	c.2162G>A	c.(2161-2163)gGa>gAa	p.G721E	ROBO1_ENST00000467549.1_Missense_Mutation_p.G724E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G760E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G724E			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	760	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTATCTGCTCCTTGAAATTC	0.388000													10	16					0	0	0.006214	0	0
OR5T3	390154	broad.mit.edu	37	11	56019945	56019945	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56019945T>A	ENST00000303059.3	+	1	270	c.270T>A	c.(268-270)taT>taA	p.Y90*		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACCCCATGTATTATTTTCTTA	0.348000													26	38					0	0	0.004656	0	0
ACTN1	87	broad.mit.edu	37	14	69378929	69378929	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:69378929A>T	ENST00000193403.6	-	4	754	c.371T>A	c.(370-372)cTg>cAg	p.L124Q	ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000376839.3_Missense_Mutation_p.L59Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.L124Q|ACTN1_ENST00000438964.2_Missense_Mutation_p.L124Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.L124Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	124	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GATCATGCCCAGGGTCATCTT	0.537000											OREG0022758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	139					0	0	0.010771	0	0
IQCA1	79781	broad.mit.edu	37	2	237300635	237300635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:237300635C>T	ENST00000409907.3	-	11	1671	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	IQCA1_ENST00000309507.5_Missense_Mutation_p.G462E|IQCA1_ENST00000431676.2_Missense_Mutation_p.G425E|AC019068.2_ENST00000413353.1_RNA			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	466	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTTTTTCTTTCCTGCTTTCAC	0.498000													93	291					0	0	0.014410	0	0
HERC1	8925	broad.mit.edu	37	15	63954088	63954088	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:63954088G>C	ENST00000443617.2	-	45	9121	c.9034C>G	c.(9034-9036)Cgc>Ggc	p.R3012G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3012					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCATTGCTGCGATAGCCCTGG	0.537000													61	180					0	0	0.014410	0	0
GRB14	2888	broad.mit.edu	37	2	165404237	165404237	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:165404237G>A	ENST00000263915.3	-	3	952	c.414C>T	c.(412-414)atC>atT	p.I138I	GRB14_ENST00000543549.1_Silent_p.I51I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	138	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GATTCTTCAGGATCAACAGCT	0.438000													14	43					0	0	0.004007	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320803	79320803	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:79320803C>T	ENST00000428286.1	-	8	6510	c.5310G>A	c.(5308-5310)gtG>gtA	p.V1770V	PRUNE2_ENST00000376718.3_Silent_p.V2129V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2129					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTGGATTCCACTTCAGGTC	0.488000													38	123					0	0	0.005524	0	0
RCBTB2	1102	broad.mit.edu	37	13	49073831	49073831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:49073831G>A	ENST00000344532.3	-	13	1733	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L	RCBTB2_ENST00000430805.2_Missense_Mutation_p.S442L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.S163L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	437	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AACAGGATATGAAAATTCACT	0.418000													40	53					0	0	0.007835	0	0
FSTL4	23105	broad.mit.edu	37	5	132736599	132736599	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:132736599C>T	ENST00000265342.7	-	4	489	c.240G>A	c.(238-240)agG>agA	p.R80R		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	80						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCTGTCTTCCTGCTGAGCA	0.607000													37	43					0	0	0.004289	0	0
PQLC3	130814	broad.mit.edu	37	2	11300786	11300786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:11300786G>A	ENST00000295083.3	+	3	437	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	PQLC3_ENST00000402361.1_Missense_Mutation_p.G88R|PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.G88R	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	88						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCATTTTAACGGGAACGTGAA	0.517000													31	226					0	0	0.003271	0	0
C10orf68	79741	broad.mit.edu	37	10	33123776	33123776	+	Missense_Mutation	SNP	G	G	A	rs143370393	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:33123776G>A	ENST00000375030.2	+	15	1610	c.992G>A	c.(991-993)gGa>gAa	p.G331E	C10orf68_ENST00000375025.4_Missense_Mutation_p.G408E|C10orf68_ENST00000375028.3_Missense_Mutation_p.G348E			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	372										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GGTGTTAATGGAAAAGATATA	0.323000													4	5					0	0	0.009096	0	0
TSHB	7252	broad.mit.edu	37	1	115576718	115576718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:115576718C>T	ENST00000256592.1	+	3	355	c.287C>T	c.(286-288)tCc>tTc	p.S96F	TSHB_ENST00000369517.1_Missense_Mutation_p.S96F	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	96					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCCTATTTTTCCTATCCTGTT	0.433000													108	147					0	0	0.014410	0	0
VPS52	6293	broad.mit.edu	37	6	33231635	33231635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33231635G>A	ENST00000445902.2	-	16	1860	c.1642C>T	c.(1642-1644)Ctc>Ttc	p.L548F	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.L423F	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	548					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCACTCGGAGGACAAAATTC	0.527000													27	69					0	0	0.004656	0	0
PXDNL	137902	broad.mit.edu	37	8	52359611	52359611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:52359611G>A	ENST00000356297.4	-	12	1578	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	PXDNL_ENST00000543296.1_Missense_Mutation_p.S493L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	493	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCCCCAACGAACTGACTGC	0.468000													40	210					0	0	0.013114	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79577333	79577333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:79577333G>A	ENST00000369940.2	+	1	145	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	14	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AGTGTTCGTGGAACTGGTTCC	0.627000													50	95					0	0	0.014410	0	0
IMPG2	50939	broad.mit.edu	37	3	100949962	100949962	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:100949962G>A	ENST00000193391.7	-	16	3448	c.3261C>T	c.(3259-3261)taC>taT	p.Y1087Y		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1087	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCTTGCCTCGGTACCACCAGT	0.493000													99	132					0	0	0.014410	0	0
COL5A3	50509	broad.mit.edu	37	19	10088055	10088055	+	Missense_Mutation	SNP	C	C	T	rs148194988	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10088055C>T	ENST00000264828.3	-	43	3305	c.3220G>A	c.(3220-3222)Gag>Aag	p.E1074K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1074	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCCCTTCCTCGCCAGAAGGC	0.652000													97	279					0	0	0.014410	0	0
C8orf74	203076	broad.mit.edu	37	8	10555278	10555278	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10555278G>A	ENST00000304519.5	+	3	440	c.411G>A	c.(409-411)ctG>ctA	p.L137L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	137										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AGGTCGACCTGACCGTTGCCC	0.632000													69	273					0	0	0.014410	0	0
FBXO27	126433	broad.mit.edu	37	19	39516072	39516072	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:39516072G>A	ENST00000292853.4	-	6	950	c.831C>T	c.(829-831)atC>atT	p.I277I	FBXO27_ENST00000509137.2_Silent_p.I277I|FBXO27_ENST00000600828.1_Silent_p.I276I	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	277	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.I277I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGACTCGCACGATCACACTGG	0.587000													56	70					0	0	0.014410	0	0
ZNF827	152485	broad.mit.edu	37	4	146700653	146700653	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:146700653C>T	ENST00000508784.1	-	9	2621	c.2394G>A	c.(2392-2394)aaG>aaA	p.K798K	ZNF827_ENST00000379448.4_Silent_p.K798K|ZNF827_ENST00000513320.1_Silent_p.K448K			Q17R98	ZN827_HUMAN	zinc finger protein 827	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTAGGACTATCTTTTCTGTTT	0.418000													38	58					0	0	0.006230	0	0
GATAD2B	57459	broad.mit.edu	37	1	153788833	153788833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153788833G>A	ENST00000368655.4	-	7	1375	c.1132C>T	c.(1132-1134)Cat>Tat	p.H378Y		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	378	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAAGAAATGAAGTAAGGGA	0.502000													50	88					0	0	0.014410	0	0
BMP10	27302	broad.mit.edu	37	2	69098400	69098400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:69098400G>A	ENST00000295379.1	-	1	249	c.91C>T	c.(91-93)Cct>Tct	p.P31S		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	31					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TCTTCCAGAGGAGACTGCTCT	0.502000													19	57					0	0	0.006122	0	0
IGSF10	285313	broad.mit.edu	37	3	151163411	151163411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151163411C>T	ENST00000282466.3	-	4	4357	c.4358G>A	c.(4357-4359)aGg>aAg	p.R1453K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1453					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATTGCTTTCCTAGTTGTGGT	0.448000													97	161					0	0	0.014410	0	0
CACNA1A	773	broad.mit.edu	37	19	13366061	13366061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:13366061C>T	ENST00000360228.5	-	29	4602	c.4603G>A	c.(4603-4605)Gat>Aat	p.D1535N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1536N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1536					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGGCGAAATCAATGCAGGCC	0.617000													6	10					0	0	0.001984	0	0
C6	729	broad.mit.edu	37	5	41149420	41149420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41149420C>T	ENST00000263413.3	-	17	2810	c.2546G>A	c.(2545-2547)aGg>aAg	p.R849K	C6_ENST00000337836.5_Missense_Mutation_p.R849K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	849	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGTCTTGTCCTTTCAAGACC	0.418000													37	130					0	0	0.006230	0	0
EVPL	2125	broad.mit.edu	37	17	74005252	74005252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:74005252C>T	ENST00000301607.3	-	22	4287	c.4034G>A	c.(4033-4035)cGg>cAg	p.R1345Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R1367Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1345	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCGCGGCCCGCCTCTTCTG	0.682000													74	165					0	0	0.014410	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652518	121652518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:121652518C>T	ENST00000393386.2	+	12	3829	c.3418C>T	c.(3418-3420)Ctt>Ttt	p.L1140F	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1140					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGACACTTCGCTTAAACCTGT	0.413000													41	115					0	0	0.009718	0	0
ROBO3	64221	broad.mit.edu	37	11	124745128	124745128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124745128G>A	ENST00000397801.1	+	14	2387	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	ROBO3_ENST00000538940.1_Missense_Mutation_p.R710K	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	732	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACTGTGCTAAGAGGACTCCCT	0.587000													61	62					0	0	0.014410	0	0
DSC3	1825	broad.mit.edu	37	18	28574457	28574457	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:28574457G>A	ENST00000434452.1	-	16	2653	c.2499C>T	c.(2497-2499)tcC>tcT	p.S833S	DSC3_ENST00000360428.4_Intron	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	0					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)			GTCCTCTAATGGATTCCTACA	0.249000													26	31					0	0	0.007291	0	0
PROM1	8842	broad.mit.edu	37	4	16000066	16000066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:16000066G>A	ENST00000505450.1	-	14	2209	c.1597C>T	c.(1597-1599)Ctc>Ttc	p.L533F	PROM1_ENST00000447510.2_Missense_Mutation_p.L542F|PROM1_ENST00000543373.1_Missense_Mutation_p.L533F|PROM1_ENST00000540805.1_Missense_Mutation_p.L542F|PROM1_ENST00000508167.1_Missense_Mutation_p.L533F|PROM1_ENST00000510224.1_Missense_Mutation_p.L542F|PROM1_ENST00000539194.1_Missense_Mutation_p.L542F	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	542					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTCCCAGAGAGATAGTATTCC	0.308000													6	39					0	0	0.001168	0	0
KRT16	3868	broad.mit.edu	37	17	39768500	39768500	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39768500C>T	ENST00000301653.4	-	1	505	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	147	Coil 1A.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CACGGATCTTCACTTCCAGGT	0.577000													99	227					0	0	0.014410	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199749	71199749	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:71199749G>A	ENST00000554752.2	-	11	2336	c.2337C>T	c.(2335-2337)ccC>ccT	p.P779P	MAP3K9_ENST00000554146.1_Silent_p.P507P|MAP3K9_ENST00000555993.2_Silent_p.P793P|MAP3K9_ENST00000381250.4_Silent_p.P756P|MAP3K9_ENST00000553414.1_Silent_p.P512P			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	779					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCTCCTCCAGGGGAAGCAGCT	0.652000													28	130					0	0	0.012213	0	0
MTA2	9219	broad.mit.edu	37	11	62362077	62362077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:62362077G>A	ENST00000278823.2	-	16	1992	c.1603C>T	c.(1603-1605)Cct>Tct	p.P535S	MTA2_ENST00000527204.1_Missense_Mutation_p.P362S|MTA2_ENST00000524902.1_Missense_Mutation_p.P362S	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	535					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTACCCCGAGGTGTTTTTGGT	0.512000													40	44					0	0	0.006230	0	0
KIF21B	23046	broad.mit.edu	37	1	200973971	200973971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200973971C>T	ENST00000332129.2	-	6	1139	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	KIF21B_ENST00000360529.5_Missense_Mutation_p.A275T|KIF21B_ENST00000461742.2_Missense_Mutation_p.A275T|KIF21B_ENST00000422435.2_Missense_Mutation_p.A275T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	275	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGAGCCGGCCAGGTCCACA	0.592000													34	91					0	0	0.013726	0	0
AKAP4	8852	broad.mit.edu	37	X	49963310	49963310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:49963310C>T	ENST00000376056.2	-	2	244	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	AKAP4_ENST00000376058.2_Missense_Mutation_p.V32M|AKAP4_ENST00000376064.3_Missense_Mutation_p.V32M|AKAP4_ENST00000358526.2_Missense_Mutation_p.V41M|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	41					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TATCTTACCACTTTCCGGTCC	0.453000													11	27					0	0	0.008291	0	0
C3orf27	23434	broad.mit.edu	37	3	128292266	128292266	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:128292266G>A	ENST00000356020.2	-	3	1273	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	103								p.L103V(1)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TGGCACAGCAGAGTCCTGGCA	0.577000													80	112					0	0	0.014410	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978661	119978661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:119978661G>A	ENST00000307142.4	+	5	3554	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	SYNPO2_ENST00000448416.2_Silent_p.P121P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	774						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TAAACCAACCGATGGACTAGA	0.488000													45	79					0	0	0.009718	0	0
SCN5A	6331	broad.mit.edu	37	3	38663892	38663892	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38663892C>T	ENST00000413689.1	-	4	674	c.482_splice	c.e4+1	p.E161_splice	SCN5A_ENST00000414099.2_Splice_Site_p.E161_splice|SCN5A_ENST00000451551.2_Splice_Site_p.E161_splice|SCN5A_ENST00000450102.2_Splice_Site_p.E161_splice|SCN5A_ENST00000449557.2_Splice_Site_p.E161_splice|SCN5A_ENST00000455624.2_Splice_Site_p.E161_splice|SCN5A_ENST00000443581.1_Splice_Site_p.E161_splice|SCN5A_ENST00000425664.1_Splice_Site_p.E161_splice|SCN5A_ENST00000423572.2_Splice_Site_p.E161_splice|SCN5A_ENST00000333535.4_Splice_Site_p.E161_splice	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	161			E -> K (in BRS1 and PFHB1A).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATACTCACTCGACATACTTG	0.587000													8	33					0	0	0.003080	0	0
SAMD9	54809	broad.mit.edu	37	7	92731217	92731217	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:92731217G>A	ENST00000379958.2	-	3	4463	c.4194C>T	c.(4192-4194)atC>atT	p.I1398I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1398						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGTAGGTTGGATACAGGAGA	0.368000													52	132					0	0	0.014410	0	0
TPP1	1200	broad.mit.edu	37	11	6638288	6638288	+	Missense_Mutation	SNP	G	G	A	rs121908205		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6638288G>A	ENST00000299427.6	-	6	665	c.605C>T	c.(604-606)cCc>cTc	p.P202L	TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	202			P -> L (in CLN2; displays no residual enzyme activity; altered intracellular trafficking; dbSNP:rs121908205).		bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GATCACAGAGGGGGTTACCCC	0.587000													47	66					0	0	0.013114	0	0
LOC146880	146880	broad.mit.edu	37	17	62774376	62774376	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:62774376G>A	ENST00000400873.3	-	0	1019					NR_026899.1																						TCGCGGCTGGGGAGAGGGAGC	0.612000													6	12					0	0	0.003080	0	0
PHF2	5253	broad.mit.edu	37	9	96416852	96416852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:96416852C>T	ENST00000359246.4	+	7	1314	c.947C>T	c.(946-948)cCc>cTc	p.P316L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	316	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CTCTTCATCCCCTCAGGTGAG	0.597000													62	192					0	0	0.014410	0	0
PKHD1	5314	broad.mit.edu	37	6	51907899	51907899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:51907899C>T	ENST00000371117.3	-	27	3130	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	PKHD1_ENST00000340994.4_Missense_Mutation_p.G952E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	952	IPT/TIG 4.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAACCAGTTCCGGTAATGTA	0.353000													22	37					0	0	0.014323	0	0
MARCH10	162333	broad.mit.edu	37	17	60814370	60814370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:60814370C>T	ENST00000544856.2	-	7	1234	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.E287K|MARCH10_ENST00000456609.2_Missense_Mutation_p.E287K|MARCH10_ENST00000583600.1_Missense_Mutation_p.E325K			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	287							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCATCGCTTTCTCTTCTGCTG	0.473000													137	299					0	0	0.014410	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7671380	7671380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7671380G>A	ENST00000446248.2	+	4	645	c.544G>A	c.(544-546)Gag>Aag	p.E182K	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E182K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	182	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCGGCTGCAGGAGAAGACCGA	0.716000													6	12					0	0	0.001168	0	0
BPTF	2186	broad.mit.edu	37	17	65936603	65936603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:65936603C>T	ENST00000321892.4	+	21	6747	c.6686C>T	c.(6685-6687)tCc>tTc	p.S2229F	BPTF_ENST00000335221.5_Missense_Mutation_p.S2229F|BPTF_ENST00000424123.3_Missense_Mutation_p.S2090F|BPTF_ENST00000306378.6_Missense_Mutation_p.S2103F|BPTF_ENST00000577770.1_3'UTR			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2229					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCTGTCTCCACTGCAGTC	0.468000													15	39					0	0	0.006122	0	0
CTSE	1510	broad.mit.edu	37	1	206331149	206331149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:206331149G>A	ENST00000360218.2	+	8	1117	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	CTSE_ENST00000361052.3_Silent_p.G390G|CTSE_ENST00000432969.2_Missense_Mutation_p.G263E|CTSE_ENST00000358184.2_Silent_p.G385G	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	p.G385G(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TTGACCGTGGGAATAACCGTG	0.562000													45	197					0	0	0.011902	0	0
ZFP36	7538	broad.mit.edu	37	19	39898530	39898530	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:39898530T>A	ENST00000597629.1	+	2	264	c.190T>A	c.(190-192)Tcc>Acc	p.S64T	ZFP36_ENST00000248673.3_Missense_Mutation_p.S58T|ZFP36_ENST00000594045.1_3'UTR			P26651	TTP_HUMAN	ZFP36 ring finger protein	58					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCTGGCCGCTCCACCAGCCT	0.736000													33	38					0	0	0.013726	0	0
SPOCK3	50859	broad.mit.edu	37	4	168155141	168155141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:168155141G>A	ENST00000357154.3	-	2	321	c.184C>T	c.(184-186)Cga>Tga	p.R62*	SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000534949.1_Silent_p.S22S|SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.R62*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	62					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTACGTCTCGGAATTTGTTC	0.632000													14	85					0	0	0.004007	0	0
FBN1	2200	broad.mit.edu	37	15	48738928	48738928	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:48738928G>A	ENST00000316623.5	-	47	6218	c.5763C>T	c.(5761-5763)atC>atT	p.I1921I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1921	EGF-like 32; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGTGAGAAAGGATGAAACCAT	0.408000													22	44					0	0	0.002780	0	0
SYT10	341359	broad.mit.edu	37	12	33559866	33559866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:33559866C>T	ENST00000228567.3	-	3	1231	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R131Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	312	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATGTAGTTTTCGGTTGCTTAG	0.353000													21	60					0	0	0.014323	0	0
HORMAD2	150280	broad.mit.edu	37	22	30500398	30500398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:30500398G>A	ENST00000336726.6	+	5	621	c.266G>A	c.(265-267)gGt>gAt	p.G89D	HORMAD2_ENST00000403975.1_Missense_Mutation_p.G89D	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	89	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			AGGATTCAAGGTTGTTTTGAT	0.299000													47	82					0	0	0.014410	0	0
TERF1	7013	broad.mit.edu	37	8	73921227	73921227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:73921227G>A	ENST00000276602.6	+	1	129	c.106G>A	c.(106-108)Gag>Aag	p.E36K	TERF1_ENST00000276603.5_Missense_Mutation_p.E36K	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	36	Asp/Glu-rich (acidic).				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGAAACGACGAGGAGCAGTT	0.662000													13	32					0	0	0.013537	0	0
TCTN1	79600	broad.mit.edu	37	12	111066751	111066751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:111066751C>T	ENST00000550703.2	+	4	808	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000377654.3_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551590.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	0					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TGATTCTTTTCATCCCATCAC	0.338000													30	40					0	0	0.010818	0	0
SYNM	23336	broad.mit.edu	37	15	99670731	99670731	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:99670731C>T	ENST00000336292.6	+	5	2283	c.2163C>T	c.(2161-2163)gcC>gcT	p.A721A	SYNM_ENST00000328642.7_Silent_p.A721A|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Silent_p.A436A	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	722	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCAAGTCAGCCGAGCAGATGA	0.512000													23	48					0	0	0.012319	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817085	22817085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:22817085C>T	ENST00000404138.1	+	3	1155	c.644C>T	c.(643-645)cCc>cTc	p.P215L	ZBTB40_ENST00000375647.4_Missense_Mutation_p.P215L|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P215L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	215					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCTTGTTCCCCCTCCCCTGCT	0.473000													24	79					0	0	0.002780	0	0
PCSK5	5125	broad.mit.edu	37	9	78784642	78784642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:78784642G>A	ENST00000545128.1	+	13	2180	c.1642G>A	c.(1642-1644)Gga>Aga	p.G548R	PCSK5_ENST00000376767.3_Missense_Mutation_p.G548R|PCSK5_ENST00000376752.4_Missense_Mutation_p.G548R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	548	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCCATGGAAGGATTCAAAAA	0.418000													21	74					0	0	0.012319	0	0
TMEM154	201799	broad.mit.edu	37	4	153564299	153564299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:153564299G>A	ENST00000304385.3	-	5	650	c.419C>T	c.(418-420)tCt>tTt	p.S140F		NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	140						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCCATAACAGAGGGTGTATC	0.338000													12	69					0	0	0.001855	0	0
UNC79	57578	broad.mit.edu	37	14	94089029	94089029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94089029G>A	ENST00000553484.1	+	31	5670	c.5516G>A	c.(5515-5517)aGg>aAg	p.R1839K	UNC79_ENST00000555664.1_Missense_Mutation_p.R1817K|UNC79_ENST00000393151.2_Missense_Mutation_p.R1817K|UNC79_ENST00000256339.4_Missense_Mutation_p.R1640K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1817						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AATCCTGAAAGGAAGGTGGAA	0.473000													9	39					0	0	0.004482	0	0
RNF17	56163	broad.mit.edu	37	13	25418018	25418018	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25418018T>G	ENST00000255324.5	+	20	2792	c.2740T>G	c.(2740-2742)Tat>Gat	p.Y914D	RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.Y914D	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	914					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCAGTCACTTTATAATAAGGA	0.313000													27	37					0	0	0.006320	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067169	46067169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46067169C>T	ENST00000334670.8	+	1	839	c.794C>T	c.(793-795)tCc>tTc	p.S265F	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	259						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCCTGCCAGTCCAGCTGCTGC	0.692000													50	112					0	0	0.014410	0	0
ABCB4	5244	broad.mit.edu	37	7	87060831	87060831	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:87060831G>A	ENST00000265723.4	-	15	1893	c.1782C>T	c.(1780-1782)gtC>gtT	p.V594V	ABCB4_ENST00000545634.1_Silent_p.V594V|ABCB4_ENST00000359206.3_Silent_p.V594V|ABCB4_ENST00000453593.1_Silent_p.V594V|ABCB4_ENST00000358400.3_Silent_p.V594V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	594	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGCATTTCGGACCGTAGACA	0.488000													42	121					0	0	0.010771	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127195	45127195	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:45127195G>A	ENST00000575173.1	-	0	418																											CCCTACCACAGGTGAGAGACA	0.473000													41	87					0	0	0.007835	0	0
ITPR2	3709	broad.mit.edu	37	12	26572051	26572051	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:26572051G>A	ENST00000381340.3	-	50	7457	c.7041C>T	c.(7039-7041)ctC>ctT	p.L2347L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2347					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCACGTGATAGAGAAAGGCCA	0.448000													15	46					0	0	0.004990	0	0
RHPN2	85415	broad.mit.edu	37	19	33512498	33512498	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:33512498G>A	ENST00000254260.3	-	4	404	c.369C>T	c.(367-369)gtC>gtT	p.V123V	RHPN2_ENST00000400226.4_Intron	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	123	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTGCAAAGTCGACGTCTTTCG	0.493000													25	48					0	0	0.005443	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366725	40366725	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:40366725G>A	ENST00000406785.1	-	7	2442	c.2253C>T	c.(2251-2253)gtC>gtT	p.V751V	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.V787V|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.V787V|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.V751V|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.V751V|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.V782V|SLC8A1_ENST00000542024.1_Silent_p.V751V|SLC8A1_ENST00000405901.3_Silent_p.V782V|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.V751V|SLC8A1_ENST00000408028.2_Silent_p.V779V|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	787					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGGCAAACAGGACCTTCCAGA	0.502000													30	65					0	0	0.008361	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598433	151598433	+	Silent	SNP	C	C	T	rs145165680		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151598433C>T	ENST00000362032.4	+	3	207	c.102C>T	c.(100-102)ttC>ttT	p.F34F	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGATTGAGTTCGTTGTGGGAG	0.423000													49	194					0	0	0.014410	0	0
F8	2157	broad.mit.edu	37	X	154156898	154156898	+	Missense_Mutation	SNP	C	C	T	rs137852373		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:154156898C>T	ENST00000360256.4	-	14	5367	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1723	F5/8 type A 3.|Plastocyanin-like 5.		E -> K (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGAGCCTCTCCACTGCAGCA	0.413000													19	16					0	0	0.014323	0	0
PCLO	27445	broad.mit.edu	37	7	82538228	82538228	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:82538228C>G	ENST00000423517.2	-	8	13739	c.13402G>C	c.(13402-13404)Gtc>Ctc	p.V4468L	PCLO_ENST00000333891.8_Missense_Mutation_p.V4468L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4399	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGAGTGGACCAATCTTTCC	0.413000													12	27					0	0	0.013537	0	0
YTHDC1	91746	broad.mit.edu	37	4	69182129	69182129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69182129G>A	ENST00000344157.4	-	16	2197	c.1862C>T	c.(1861-1863)cCt>cTt	p.P621L	YTHDC1_ENST00000579690.1_Missense_Mutation_p.P629L|YTHDC1_ENST00000355665.3_Missense_Mutation_p.P603L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	621	Pro-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTGATAGTAAGGATGGTGTGG	0.438000													40	105					0	0	0.006230	0	0
DEFB112	245915	broad.mit.edu	37	6	50016362	50016362	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:50016362C>T	ENST00000322246.4	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	1					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCAATAATTTCATAAGAGTGC	0.323000													13	29					0	0	0.013537	0	0
TC2N	123036	broad.mit.edu	37	14	92251509	92251509	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:92251509G>A	ENST00000435962.2	-	11	1682	c.1359C>T	c.(1357-1359)ggC>ggT	p.G453G	TC2N_ENST00000556018.1_Silent_p.G389G|TC2N_ENST00000360594.5_Silent_p.G453G|TC2N_ENST00000340892.5_Silent_p.G453G	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	453	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TACTAACCTGGCCCACAAAGT	0.318000													24	87					0	0	0.003954	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178229	39178229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:39178229G>A	ENST00000297668.6	-	5	740	c.667C>T	c.(667-669)Cac>Tac	p.H223Y	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.H135Y|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.H223Y|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.H223Y|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.H223Y	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	223	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTTCTCTGTGAAGTAGAATT	0.303000													37	115					0	0	0.009718	0	0
DNAH5	1767	broad.mit.edu	37	5	13701465	13701465	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13701465G>A	ENST00000265104.4	-	77	13523	c.13419C>T	c.(13417-13419)ttC>ttT	p.F4473F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4473					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)					GTCGGCCATTGAAAACCCACG	0.438000									Kartagener syndrome				41	92					0	0	0.007835	0	0
POTEG	404785	broad.mit.edu	37	14	19553789	19553789	+	Missense_Mutation	SNP	G	G	A	rs145666754		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:19553789G>A	ENST00000409832.3	+	1	425	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	125										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACTACGACGACAGCGCTTT	0.592000													72	801					0	0	0.014410	0	0
MKX	283078	broad.mit.edu	37	10	28023670	28023670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:28023670G>A	ENST00000375790.5	-	5	985	c.553C>T	c.(553-555)Cca>Tca	p.P185S	MKX_ENST00000419761.1_Missense_Mutation_p.P185S			Q8IYA7	MKX_HUMAN	mohawk homeobox	185					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGGTGAACTGGGGTATTATAG	0.493000													34	43					0	0	0.003271	0	0
MYLK2	85366	broad.mit.edu	37	20	30408016	30408016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:30408016C>T	ENST00000375994.2	+	2	413	c.140C>T	c.(139-141)cCa>cTa	p.P47L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P47L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	47					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTCCGGATCCACCCACCCTG	0.597000													42	96					0	0	0.009718	0	0
TP53I3	9540	broad.mit.edu	37	2	24305773	24305773	+	Nonsense_Mutation	SNP	G	G	A	rs143715832	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:24305773G>A	ENST00000238721.4	-	2	1242	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	TP53I3_ENST00000313482.4_Nonsense_Mutation_p.Q130*|TP53I3_ENST00000335934.4_Nonsense_Mutation_p.Q130*|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Nonsense_Mutation_p.Q130*|TP53I3_ENST00000417886.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	130					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAACAGCTGGAAGGCGGTG	0.572000													14	26					0	0	0.004007	0	0
NUP188	23511	broad.mit.edu	37	9	131768355	131768355	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:131768355C>T	ENST00000372577.2	+	42	4917	c.4896C>T	c.(4894-4896)acC>acT	p.T1632T		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1632					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGCCCCTCACCCAGGCAGTGG	0.522000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	172					0	0	0.009718	0	0
EDARADD	128178	broad.mit.edu	37	1	236572530	236572530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:236572530G>A	ENST00000359362.5	+	2	260	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	EDARADD_ENST00000334232.4_Missense_Mutation_p.E26K	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	26					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TATGGTAAAGGAACCAGTGGA	0.323000													41	97					0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6128845	6128845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6128845G>A	ENST00000261405.5	-	28	3993	c.3739C>T	c.(3739-3741)Ccc>Tcc	p.P1247S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1247					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCATCTGTGGGAGGCACCACC	0.567000													19	45					0	0	0.008871	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514238	47514238	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:47514238G>A	ENST00000371901.3	+	10	1459	c.1207_splice	c.e10-1	p.G403_splice	CYP4X1_ENST00000538609.1_Splice_Site_p.G402_splice	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	403						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTTTCTTAGGGATCACCGTGG	0.428000													81	196					0	0	0.014410	0	0
UPF3B	65109	broad.mit.edu	37	X	118974617	118974617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:118974617G>A	ENST00000276201.2	-	8	907	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	UPF3B_ENST00000345865.2_Intron|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	280	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ACATTTTTCTGATTCACAGCT	0.378000													19	31					0	0	0.008871	0	0
GPR113	165082	broad.mit.edu	37	2	26537355	26537355	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:26537355G>A	ENST00000333478.6	-	4	1044	c.462C>T	c.(460-462)ttC>ttT	p.F154F	GPR113_ENST00000421160.2_Silent_p.F284F|GPR113_ENST00000311519.1_Silent_p.F353F|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000459892.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	353					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCAGCTGGAAGCCAGGGG	0.617000													38	61					0	0	0.014410	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190579	72190579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:72190579C>T	ENST00000555818.1	+	16	4835	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S950F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1475F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1475F|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1496					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	p.S1496F(1)		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)		ACCATAAACTCCGTGGGATTT	0.478000													48	106					0	0	0.014410	0	0
COLQ	8292	broad.mit.edu	37	3	15499767	15499767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:15499767C>T	ENST00000383788.5	-	13	1005	c.880G>A	c.(880-882)Gga>Aga	p.G294R	COLQ_ENST00000435459.2_Missense_Mutation_p.G284R|COLQ_ENST00000383787.2_Missense_Mutation_p.G285R|COLQ_ENST00000603808.1_Missense_Mutation_p.G294R|COLQ_ENST00000383781.4_Missense_Mutation_p.G284R|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383786.5_Missense_Mutation_p.G260R	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	294					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATAGTGGGTCCACAAAGACAT	0.517000													115	183					0	0	0.014410	0	0
PLVAP	83483	broad.mit.edu	37	19	17476205	17476205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17476205C>T	ENST00000252590.4	-	3	1130	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	357						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTCTCGTTCCTTCCGCAGC	0.622000													68	193					0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166897931	166897931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:166897931G>A	ENST00000423058.2	-	13	2242	c.2225C>T	c.(2224-2226)tCc>tTc	p.S742F	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S714F|SCN1A_ENST00000375405.3_Missense_Mutation_p.S731F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S742F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	742						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAATATGTTGGAAAATTTATA	0.373000													50	129					0	0	0.014410	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136856	40136856	+	Silent	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:40136856C>A	ENST00000278198.2	-	2	2950	c.987G>T	c.(985-987)cgG>cgT	p.R329R	LRRC4C_ENST00000528697.1_Silent_p.R329R|LRRC4C_ENST00000530763.1_Silent_p.R329R|LRRC4C_ENST00000527150.1_Silent_p.R329R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	329	LRRCT.				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)				GAGTGTTACACCGGGCACAAC	0.507000													7	40					5.18039e-06	5.26177e-06	0.003080	1	0
LRRC16B	90668	broad.mit.edu	37	14	24529923	24529923	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24529923C>T	ENST00000342740.5	+	25	2302	c.2148C>T	c.(2146-2148)ctC>ctT	p.L716L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	716										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATGAGCTACTCTACGCTCGGG	0.627000													17	48					0	0	0.004007	0	0
OR51F2	119694	broad.mit.edu	37	11	4842709	4842709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4842709C>T	ENST00000322110.5	+	1	159	c.94C>T	c.(94-96)Cca>Tca	p.P32S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGGGCATTCCAGGCCTGAA	0.473000													47	232					0	0	0.013114	0	0
OR11H6	122748	broad.mit.edu	37	14	20692828	20692828	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20692828G>A	ENST00000315519.2	+	1	1038	c.960G>A	c.(958-960)aaG>aaA	p.K320K		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATGCTCTAAAGAGAGTCCTGG	0.368000													41	120					0	0	0.008740	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590704	125590704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:125590704C>T	ENST00000504087.1	-	4	4765	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G1064E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1243	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATGACTCTGTCCTAAGGACTG	0.403000													53	116					0	0	0.014410	0	0
SCN10A	6336	broad.mit.edu	37	3	38753898	38753898	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38753898G>A	ENST00000449082.2	-	22	3842	c.3843C>T	c.(3841-3843)atC>atT	p.I1281I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1281					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGACATTCATGATGGATGGGA	0.552000													40	120					0	0	0.006999	0	0
STAT4	6775	broad.mit.edu	37	2	191894583	191894583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:191894583G>A	ENST00000392320.2	-	24	2544	c.2230C>T	c.(2230-2232)Cct>Tct	p.P744S	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.P744S	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	744					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCAGAATAAGGAGACTTCATC	0.323000													58	162					0	0	0.014410	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413429	50413429	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50413429G>A	ENST00000435965.1	-	19	1911	c.1738C>T	c.(1738-1740)Ctg>Ttg	p.L580L	CACNA2D2_ENST00000360963.3_Silent_p.L511L|CACNA2D2_ENST00000479441.1_Silent_p.L580L|CACNA2D2_ENST00000424201.2_Silent_p.L580L|CACNA2D2_ENST00000429770.1_Silent_p.L580L|CACNA2D2_ENST00000423994.2_Silent_p.L580L|CACNA2D2_ENST00000395083.1_Silent_p.L580L|CACNA2D2_ENST00000266039.3_Silent_p.L580L			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	580					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCCGCATCCAGGAAGTCCAGA	0.602000													74	237					0	0	0.014410	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797942	148797942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:148797942G>A	ENST00000355220.5	+	5	898	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E237K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	266	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATATTTAGGGAAGCCTCTGT	0.473000													117	133					0	0	0.014410	0	0
USP24	23358	broad.mit.edu	37	1	55598327	55598327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:55598327G>A	ENST00000294383.6	-	31	3427	c.3428C>T	c.(3427-3429)tCc>tTc	p.S1143F	USP24_ENST00000407756.1_Missense_Mutation_p.S983F	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1143	Ser-rich.				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGATGACAGGGATGGAGATTT	0.393000													23	25					0	0	0.012319	0	0
ABCC1	4363	broad.mit.edu	37	16	16110399	16110399	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:16110399T>A	ENST00000399408.2	+	5	711	c.536T>A	c.(535-537)tTt>tAt	p.F179Y	ABCC1_ENST00000351154.5_Missense_Mutation_p.F179Y|ABCC1_ENST00000349029.5_Missense_Mutation_p.F179Y|ABCC1_ENST00000346370.5_Missense_Mutation_p.F179Y|ABCC1_ENST00000345148.5_Missense_Mutation_p.F179Y|ABCC1_ENST00000399410.3_Missense_Mutation_p.F179Y			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	179					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TACGTCTACTTTTCCCTCTTA	0.507000													78	397					0	0	0.014410	0	0
COL21A1	81578	broad.mit.edu	37	6	56044665	56044665	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:56044665C>T	ENST00000244728.5	-	3	748	c.351G>A	c.(349-351)ggG>ggA	p.G117G	COL21A1_ENST00000535941.1_Silent_p.G117G|COL21A1_ENST00000370819.1_Silent_p.G117G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	117	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGATGGCCTTCCCTGTCTTTG	0.478000													13	40					0	0	0.013537	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899650	156899650	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:156899650C>G	ENST00000311946.7	+	6	1199	c.1083C>G	c.(1081-1083)taC>taG	p.Y361*	NIPAL4_ENST00000435489.2_Nonsense_Mutation_p.Y342*|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	361						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCATCTACTACGTGTTCTTCA	0.537000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	75					0	0	0.006999	0	0
KIF7	374654	broad.mit.edu	37	15	90185521	90185521	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:90185521G>A	ENST00000394412.3	-	11	2383	c.2307C>T	c.(2305-2307)ctC>ctT	p.L769L		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	769					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTTGCCCTCGAGCTCCCGCA	0.692000													12	33					0	0	0.013537	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417665	1417665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1417665C>T	ENST00000308647.7	+	6	778	c.662C>T	c.(661-663)aCc>aTc	p.T221I	ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000378741.3_Missense_Mutation_p.T53I	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	221							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACCGTCAGACCGTCTTGGAG	0.692000													19	56					0	0	0.003954	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885075	88885075	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:88885075G>A	ENST00000319675.3	-	1	1221	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	375										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GTGCTCCTCGGAAGCCCCCGA	0.592000													22	52					0	0	0.012319	0	0
RGPD4	285190	broad.mit.edu	37	2	108488581	108488581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:108488581G>A	ENST00000408999.3	+	20	4198	c.4121G>A	c.(4120-4122)tGg>tAg	p.W1374*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.W1374*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1374	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTTGGTCAATGGAAAGAAAGG	0.353000													77	187					0	0	0.014410	0	0
LRP10	26020	broad.mit.edu	37	14	23344855	23344855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23344855C>T	ENST00000359591.4	+	5	1389	c.698C>T	c.(697-699)gCc>gTc	p.A233V	LRP10_ENST00000546834.1_Missense_Mutation_p.A233V	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	233	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CGGCGGCTGGCCGTGCGCTTC	0.622000													57	134					0	0	0.014410	0	0
THAP4	51078	broad.mit.edu	37	2	242542425	242542425	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242542425G>A	ENST00000407315.1	-	4	1901	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	THAP4_ENST00000402545.1_Silent_p.P78P|THAP4_ENST00000402136.1_Silent_p.P78P	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	490							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGTTGGTGTCGGGCTTGAGGC	0.622000													46	144					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13781069	13781069	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13781069C>T	ENST00000265104.4	-	53	8925		c.e53-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					CACGAGAGATCTGTAATATGG	0.398000									Kartagener syndrome				7	22					0	0	0.004482	0	0
AANAT	15	broad.mit.edu	37	17	74464834	74464834	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:74464834C>T	ENST00000250615.3	+	5	1148	c.141C>T	c.(139-141)tcC>tcT	p.S47S	AANAT_ENST00000392492.3_Silent_p.S2S	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	2	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CCAGAATGTCCACGCAGAGCA	0.657000													7	28					0	0	0.004482	0	0
ZNF362	149076	broad.mit.edu	37	1	33736189	33736189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:33736189C>T	ENST00000539719.1	+	2	184	c.14C>T	c.(13-15)tCa>tTa	p.S5L	ZNF362_ENST00000373428.5_Missense_Mutation_p.S5L|ZNF362_ENST00000490959.2_3'UTR	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				agtagaagttcaccaagtggg	0.498000													55	160					0	0	0.014410	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461387	5461387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:5461387C>T	ENST00000296564.7	+	13	2162	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	647										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AATCCCCAGTCTTCTTCTGGG	0.393000													37	104					0	0	0.005524	0	0
FBN2	2201	broad.mit.edu	37	5	127610313	127610313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:127610313C>T	ENST00000508053.1	-	66	8631	c.7657G>A	c.(7657-7659)Ggg>Agg	p.G2553R	FBN2_ENST00000262464.4_Missense_Mutation_p.G2553R			P35556	FBN2_HUMAN	fibrillin 2	2553	EGF-like 43; 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)		CAGGTAAACCCCCCCAGGGTG	0.418000													27	37					0	0	0.010818	0	0
VPS13D	55187	broad.mit.edu	37	1	12461714	12461714	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12461714C>T	ENST00000358136.3	+	62	11968	c.11838C>T	c.(11836-11838)ctC>ctT	p.L3946L	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.L3921L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3945					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAAACTGCTCCTCAAGCTGC	0.393000													46	117					0	0	0.014410	0	0
SULT2A1	6822	broad.mit.edu	37	19	48385458	48385458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:48385458G>A	ENST00000222002.3	-	3	494	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	119				L -> D (in Ref. 1; AA sequence).	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)		TTTCTCATGAGATAAATCACC	0.328000													49	57					0	0	0.014410	0	0
ZNF208	7757	broad.mit.edu	37	19	22154826	22154826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22154826C>T	ENST00000397126.4	-	4	3158	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.368000													27	42					0	0	0.004656	0	0
MYOM2	9172	broad.mit.edu	37	8	2046756	2046756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2046756G>A	ENST00000262113.4	+	19	2524	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K	MYOM2_ENST00000523438.1_Missense_Mutation_p.E220K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	795	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGCATCGGGGAGCCCTCAGA	0.582000													7	33					0	0	0.003080	0	0
SYNRG	11276	broad.mit.edu	37	17	35900499	35900499	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:35900499G>A	ENST00000339208.6	-	16	3489	c.3349C>T	c.(3349-3351)Ctg>Ttg	p.L1117L	SYNRG_ENST00000502449.2_Silent_p.L994L|SYNRG_ENST00000345615.4_Silent_p.L1039L|SYNRG_ENST00000346661.4_Silent_p.L1117L|SYNRG_ENST00000394378.2_Silent_p.L1039L|SYNRG_ENST00000591288.1_Silent_p.L911L|SYNRG_ENST00000585472.1_Silent_p.L1038L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1117					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCCCGTCAGGTCTTTGTAC	0.537000													52	123					0	0	0.014410	0	0
UMODL1	89766	broad.mit.edu	37	21	43505421	43505421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:43505421G>A	ENST00000400427.1	+	4	682	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	UMODL1_ENST00000400424.1_Missense_Mutation_p.G96S|UMODL1_ENST00000408910.2_Missense_Mutation_p.G168S|UMODL1_ENST00000408989.2_Missense_Mutation_p.G168S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	168	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGACCCTGTGGGCTCCTGGTA	0.542000													56	204					0	0	0.014410	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854280	12854280	+	Missense_Mutation	SNP	C	C	A	rs2790782	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12854280C>A	ENST00000332296.7	+	3	607	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	168										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATACCTCTTCCAGTGGGTTT	0.443000													36	474					2.02627e-32	2.07719e-32	0.014410	1	0
HCN1	348980	broad.mit.edu	37	5	45267263	45267263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:45267263C>T	ENST00000303230.4	-	7	1768	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	571						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCAGGACCTCGTTGAAATTG	0.428000													47	124					0	0	0.014410	0	0
LEF1	51176	broad.mit.edu	37	4	109002742	109002742	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:109002742C>T	ENST00000265165.1	-	6	1376	c.722_splice	c.e6+1	p.R241_splice	LEF1_ENST00000510624.1_Intron|LEF1_ENST00000379951.2_Intron|LEF1_ENST00000438313.2_Intron	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	241	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTCCACCTACCTGGACATGGA	0.562000													8	43					0	0	0.008291	0	0
LAMA2	3908	broad.mit.edu	37	6	129498907	129498907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:129498907C>T	ENST00000421865.2	+	10	1412	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	455	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGCTGTGATCGGTGTGCCAG	0.483000													17	16					0	0	0.006122	0	0
AOC4P	90586	broad.mit.edu	37	17	41020078	41020078	+	RNA	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:41020078G>C	ENST00000585538.1	+	0	917					NR_002773.1																						GGACTATCCAGAAGGTGTTCT	0.587000													29	62					0	0	0.009535	0	0
ADRA2B	151	broad.mit.edu	37	2	96781134	96781134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96781134G>A	ENST00000409345.3	-	1	850	c.755C>T	c.(754-756)tCc>tTc	p.S252F		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	252					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTCCCCAGTGGACTTCGAGTG	0.647000													15	40					0	0	0.006122	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897173	205897173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205897173G>A	ENST00000367135.3	-	9	1071	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	SLC26A9_ENST00000367134.2_Missense_Mutation_p.P320S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P320S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	320						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)			ACCGGGGTGGGGAACCTGCCG	0.632000													9	53					0	0	0.006214	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381838	19381838	+	Silent	SNP	G	G	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:19381838G>C	ENST00000389363.4	-	2	264	c.192C>G	c.(190-192)ctC>ctG	p.L64L	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	64						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CACCAGCATAGAGTGGGTCAT	0.592000													73	259					0	0	0.014410	0	0
IDO2	169355	broad.mit.edu	37	8	39840215	39840215	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:39840215G>A	ENST00000502986.2	+	5	641	c.399G>A	c.(397-399)agG>agA	p.R133R	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.R120R|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	120					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AAGTCTCCAGGAACTTGGGGC	0.468000													11	23					0	0	0.010729	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:156812213G>A	ENST00000368195.3	-	18	3610	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000													84	148					0	0	0.014410	0	0
SYTL4	94121	broad.mit.edu	37	X	99933419	99933419	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:99933419G>A	ENST00000455616.1	-	17	2182	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	SYTL4_ENST00000454200.2_Silent_p.F614F|SYTL4_ENST00000263033.5_Silent_p.F612F|SYTL4_ENST00000372989.1_Silent_p.F612F|SYTL4_ENST00000276141.6_Silent_p.F612F|SYTL4_ENST00000491602.1_5'UTR			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	612	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCTCCCAGGAAGTCATTGC	0.527000													34	51					0	0	0.003755	0	0
KCNA3	3738	broad.mit.edu	37	1	111216508	111216508	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:111216508G>A	ENST00000369769.2	-	1	1147	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	308						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.F308F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGCAGTTCGAAGGAGAACC	0.547000													45	227					0	0	0.009718	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134201	91134201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:91134201C>T	ENST00000373094.1	+	2	3807	c.2962C>T	c.(2962-2964)Ccc>Tcc	p.P988S	PCDH11X_ENST00000373088.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P988S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P988S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P988S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	988					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P988T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGTTCAGATCCCTACAGCGT	0.493000													79	113					0	0	0.014410	0	0
DPP10	57628	broad.mit.edu	37	2	116447276	116447276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:116447276C>T	ENST00000410059.1	+	6	935	c.455C>T	c.(454-456)tCg>tTg	p.S152L	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.S145L|DPP10_ENST00000409163.1_Missense_Mutation_p.S102L|DPP10_ENST00000393147.2_Missense_Mutation_p.S156L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	152					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.S145L(2)|p.S152L(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCATTATTCGTATACTGCT	0.264000													7	11					0	0	0.003080	0	0
PRKAA2	5563	broad.mit.edu	37	1	57170074	57170074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57170074C>T	ENST00000371244.4	+	7	1285	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	407			R -> Q (in a gastric adenocarcinoma sample; somatic mutation).		carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TCTTGGAATCCGAAGTCAGAG	0.413000													33	100					0	0	0.012213	0	0
FGB	2244	broad.mit.edu	37	4	155491730	155491730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155491730G>A	ENST00000302068.4	+	8	1467	c.1404G>A	c.(1402-1404)atG>atA	p.M468I	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.M249I	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	468	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGTATGGATGAATTGGAAGG	0.468000													23	39					0	0	0.003330	0	0
ZNF841	284371	broad.mit.edu	37	19	52569368	52569368	+	Silent	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:52569368T>C	ENST00000389534.4	-	7	2226	c.1767A>G	c.(1765-1767)agA>agG	p.R589R	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.R589R|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Silent_p.R473R	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CGGTATGCATTCTTTGATGAC	0.413000													56	64					0	0	0.014410	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663112	22663112	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:22663112C>T	ENST00000426066.1	+	0	551					NR_027293.1																						TGGATAAATCCATAAAAATTG	0.289000													6	23					0	0	0.001984	0	0
CLYBL	171425	broad.mit.edu	37	13	100511124	100511124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:100511124C>T	ENST00000376355.3	+	3	290	c.259C>T	c.(259-261)Cga>Tga	p.R87*	CLYBL_ENST00000376354.1_Nonsense_Mutation_p.R87*|CLYBL_ENST00000339105.4_Nonsense_Mutation_p.R87*|CLYBL_ENST00000376360.1_Nonsense_Mutation_p.R87*|CLYBL_ENST00000444838.2_Nonsense_Mutation_p.R87*	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	87					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAATGAAGCTCGACTGAGAAT	0.388000													42	30					0	0	0.010771	0	0
F5	2153	broad.mit.edu	37	1	169483583	169483583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169483583G>A	ENST00000367796.3	-	25	6859	c.6658C>T	c.(6658-6660)Cgc>Tgc	p.R2220C	F5_ENST00000367797.3_Missense_Mutation_p.R2215C|F5_ENST00000495481.1_5'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2215	F5/8 type C 2.				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)	AGTTCCAGGCGAAGTGCAATA	0.383000													19	35					0	0	0.012319	0	0
RPH3AL	9501	broad.mit.edu	37	17	131580	131580	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:131580C>T	ENST00000331302.7	-	6	724	c.417G>A	c.(415-417)aaG>aaA	p.K139K	RPH3AL_ENST00000536489.2_Intron|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000323434.8_Intron	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	139	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CACTGCAGATCTTACACAGCC	0.592000													57	59					0	0	0.014410	0	0
COL18A1	80781	broad.mit.edu	37	21	46916463	46916463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46916463C>T	ENST00000359759.4	+	29	3824	c.3803C>T	c.(3802-3804)aCt>aTt	p.T1268I	COL18A1_ENST00000355480.5_Missense_Mutation_p.T1033I|COL18A1_ENST00000400337.2_Missense_Mutation_p.T853I|COL18A1_ENST00000459895.1_3'UTR			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1268	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCTCCAGGGACTCCTGTTTAC	0.647000													48	136					0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166900267	166900267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:166900267G>A	ENST00000423058.2	-	11	1972	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S652F|SCN1A_ENST00000375405.3_Missense_Mutation_p.S652F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S652F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	652						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACCAACCAAGGAAACCACACC	0.493000													30	61					0	0	0.013726	0	0
ZNF212	7988	broad.mit.edu	37	7	148951428	148951428	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148951428C>T	ENST00000335870.2	+	5	1538	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGCAGCACCTCCTGCAGCACC	0.647000													48	129					0	0	0.014410	0	0
PLCB4	5332	broad.mit.edu	37	20	9376218	9376218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9376218C>T	ENST00000378501.2	+	16	1478	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	PLCB4_ENST00000378473.3_Missense_Mutation_p.S488F|PLCB4_ENST00000278655.4_Missense_Mutation_p.S488F|PLCB4_ENST00000334005.3_Missense_Mutation_p.S488F|PLCB4_ENST00000414679.2_Missense_Mutation_p.S488F|PLCB4_ENST00000378493.1_Missense_Mutation_p.S488F|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	488					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						GAATCTGCCTCCCCAGCAAAC	0.393000													21	64					0	0	0.002780	0	0
MYO1H	283446	broad.mit.edu	37	12	109876414	109876414	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:109876414G>A	ENST00000310903.5	+	23	2341	c.2235G>A	c.(2233-2235)cgG>cgA	p.R745R	MYO1H_ENST00000431443.2_Silent_p.R755R			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGCCGTGCGGATTATCAGAA	0.512000													8	12					0	0	0.006214	0	0
MUC2	4583	broad.mit.edu	37	11	1093756	1093756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1093756C>T	ENST00000441003.2	+	30	5602	c.5575C>T	c.(5575-5577)Cct>Tct	p.P1859S	MUC2_ENST00000333592.6_Missense_Mutation_p.P147S|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1862						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTCCTCAACCCCTCAGACCTC	0.617000													70	450					0	0	0.014410	0	0
AKAP12	9590	broad.mit.edu	37	6	151671651	151671651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:151671651G>A	ENST00000402676.2	+	4	2365	c.2125G>A	c.(2125-2127)Gga>Aga	p.G709R	AKAP12_ENST00000354675.6_Missense_Mutation_p.G611R|AKAP12_ENST00000359755.5_Missense_Mutation_p.G604R|AKAP12_ENST00000253332.1_Missense_Mutation_p.G709R	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	709					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCAATGGGAGGAGACCACCA	0.512000													49	88					0	0	0.014410	0	0
DLG2	1740	broad.mit.edu	37	11	83180405	83180405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:83180405G>A	ENST00000398309.2	-	20	2613	c.2143C>T	c.(2143-2145)Cca>Tca	p.P715S	DLG2_ENST00000426717.2_Missense_Mutation_p.P179S|DLG2_ENST00000543673.1_Missense_Mutation_p.P820S|DLG2_ENST00000376104.2_Missense_Mutation_p.P820S|DLG2_ENST00000404783.3_Missense_Mutation_p.P193S|DLG2_ENST00000376106.3_Missense_Mutation_p.P179S|DLG2_ENST00000537455.1_Missense_Mutation_p.P465S|DLG2_ENST00000330014.6_Missense_Mutation_p.P636S|DLG2_ENST00000532653.1_Missense_Mutation_p.P697S|DLG2_ENST00000531015.1_Missense_Mutation_p.P682S|DLG2_ENST00000524982.1_Missense_Mutation_p.P711S|DLG2_ENST00000280241.8_Missense_Mutation_p.P754S|DLG2_ENST00000418306.2_Missense_Mutation_p.P594S	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	715	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTCGCTTTGGCCTCGTAGTA	0.378000													26	34					0	0	0.004656	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463551	61463551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:61463551G>A	ENST00000398019.2	+	5	713	c.388G>A	c.(388-390)Gac>Aac	p.D130N	SERPINB7_ENST00000336429.2_Missense_Mutation_p.D130N|SERPINB7_ENST00000546027.1_Missense_Mutation_p.D130N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.D113N	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	130					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGAGCGAGTTGACTTTACGAA	0.333000													35	32					0	0	0.004289	0	0
LAMC3	10319	broad.mit.edu	37	9	133961020	133961020	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:133961020G>A	ENST00000361069.4	+	25	4273	c.4140G>A	c.(4138-4140)gcG>gcA	p.A1380A	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1380	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAAGCAGGCGGAGAGGATGC	0.597000													32	83					0	0	0.009535	0	0
BMP8A	353500	broad.mit.edu	37	1	39988140	39988140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:39988140G>A	ENST00000331593.5	+	5	1280	c.934G>A	c.(934-936)Gac>Aac	p.D312N	RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000417869.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	312					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCTTCCAGGACCTTGGCTG	0.562000													46	147					0	0	0.014410	0	0
STX10	8677	broad.mit.edu	37	19	13255265	13255265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:13255265C>T	ENST00000587230.1	-	8	773	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	STX10_ENST00000589083.1_3'UTR|STX10_ENST00000242770.5_3'UTR|STX10_ENST00000343587.5_Missense_Mutation_p.G188R	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	237					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			AGAAGCACCCCCACTAGCACG	0.617000													12	26					0	0	0.001855	0	0
GSDMB	55876	broad.mit.edu	37	17	38063225	38063225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38063225G>A	ENST00000418519.1	-	7	846	c.716C>T	c.(715-717)tCa>tTa	p.S239L	GSDMB_ENST00000520542.1_Intron|GSDMB_ENST00000394175.2_Intron|GSDMB_ENST00000309481.7_Missense_Mutation_p.S226L|GSDMB_ENST00000394179.1_Intron|GSDMB_ENST00000360317.3_Missense_Mutation_p.S239L	NM_001165958.1	NP_001159430.1	Q8TAX9	GSDMB_HUMAN	gasdermin B	237						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TAAACAGGATGAAGCACCATC	0.512000													40	68					0	0	0.011902	0	0
GALC	2581	broad.mit.edu	37	14	88448555	88448555	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:88448555A>T	ENST00000261304.2	-	6	721	c.615T>A	c.(613-615)taT>taA	p.Y205*	GALC_ENST00000544807.2_Nonsense_Mutation_p.Y149*|GALC_ENST00000393568.4_Nonsense_Mutation_p.Y182*|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393569.2_Nonsense_Mutation_p.Y179*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	205					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACACCTTAATATAATTGGCAT	0.289000													23	41					0	0	0.004656	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621279	65621279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:65621279G>A	ENST00000327987.4	-	14	2664	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	805										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGTAACCCGGGCCGCTGCA	0.677000													35	88					0	0	0.003755	0	0
ZNF438	220929	broad.mit.edu	37	10	31138079	31138079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:31138079G>A	ENST00000538351.1	-	7	1862	c.1108C>T	c.(1108-1110)Ccc>Tcc	p.P370S	ZNF438_ENST00000413025.1_Missense_Mutation_p.P419S|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.P419S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P409S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P419S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P409S|ZNF438_ENST00000452305.1_Missense_Mutation_p.P409S|ZNF438_ENST00000436087.2_Missense_Mutation_p.P419S	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P419S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AATTCTTGGGGATCATTTTTT	0.403000													25	56					0	0	0.003330	0	0
PLCB4	5332	broad.mit.edu	37	20	9449219	9449219	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9449219G>A	ENST00000378501.2	+	32	3229	c.3212_splice	c.e32-1	p.E1072_splice	PLCB4_ENST00000378473.3_Splice_Site_p.E1084_splice|PLCB4_ENST00000278655.4_Splice_Site_p.E1072_splice|PLCB4_ENST00000334005.3_Splice_Site_p.E1072_splice|PLCB4_ENST00000414679.2_Splice_Site_p.E1084_splice|PLCB4_ENST00000378493.1_Splice_Site_p.E1072_splice|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1072					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						AATACATAGGGAAAGCAAGGA	0.403000													39	85					0	0	0.014410	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976931	29976931	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29976931G>A	ENST00000376797.3	-	0	748				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							GATAGAAAAGGAGGGAGCTAC	0.547000													55	118					0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130283890	130283890	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:130283890C>T	ENST00000358511.6	+	3	745	c.714C>T	c.(712-714)atC>atT	p.I238I	COL6A6_ENST00000453409.2_Silent_p.I238I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	238	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATATGTCAATCAATGGAAGTG	0.428000													157	199					0	0	0.014410	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967099	106967099	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106967099C>T	ENST00000390622.2	-	0	604																											CTGCTCAGCTCCATGTAGACT	0.542000													108	286					0	0	0.014410	0	0
LGR5	8549	broad.mit.edu	37	12	71977622	71977622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:71977622C>T	ENST00000266674.5	+	18	2143	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	LGR5_ENST00000540815.2_Missense_Mutation_p.A587V|LGR5_ENST00000536515.1_Missense_Mutation_p.A539V|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	611						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCTCCAGTGCCGTGCTGGCT	0.512000													104	350					0	0	0.014410	0	0
EXOC4	60412	broad.mit.edu	37	7	132937894	132937894	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:132937894A>C	ENST00000253861.4	+	1	66	c.37A>C	c.(37-39)Aca>Cca	p.T13P	EXOC4_ENST00000393161.2_Missense_Mutation_p.T13P	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	13					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATACAGAAGCACAGTCAGCAA	0.597000													45	128					0	0	0.014410	0	0
EPB41	2035	broad.mit.edu	37	1	29379626	29379626	+	Silent	SNP	C	C	T	rs145888614	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:29379626C>T	ENST00000343067.4	+	12	1774	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V	EPB41_ENST00000373797.1_Silent_p.V549V|EPB41_ENST00000398863.2_Silent_p.V549V|EPB41_ENST00000347529.3_Silent_p.V514V|EPB41_ENST00000373800.3_Silent_p.V340V|EPB41_ENST00000356093.2_Silent_p.V549V|EPB41_ENST00000349460.4_Silent_p.V340V|EPB41_ENST00000373798.1_Silent_p.V549V	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	549	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.V340V(1)|p.V549V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGCAGCTGTCGATTCGGCAG	0.483000													17	50					0	0	0.004990	0	0
ING2	3622	broad.mit.edu	37	4	184431602	184431602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:184431602C>T	ENST00000302327.3	+	2	542	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	ING2_ENST00000434682.2_Missense_Mutation_p.R74W	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	114					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGTGGAAAATCGGGCAAGACA	0.418000													23	166					0	0	0.002780	0	0
MYLK	4638	broad.mit.edu	37	3	123451911	123451911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:123451911C>T	ENST00000360772.3	-	12	1726	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	MYLK_ENST00000360304.3_Missense_Mutation_p.E450K|MYLK_ENST00000359169.1_Missense_Mutation_p.E450K|MYLK_ENST00000475616.1_Missense_Mutation_p.E450K|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	450	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGGGTGCCTTCCAGGAACCAG	0.572000													20	34					0	0	0.003330	0	0
OR4C15	81309	broad.mit.edu	37	11	55322738	55322738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55322738C>T	ENST00000314644.2	+	1	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTGCTTTTTCCCTTGACAAA	0.403000										HNSCC(20;0.049)			37	70					0	0	0.006230	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023706	18023706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18023706G>A	ENST00000361221.3	+	29	3830	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1185Q|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R997Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R927Q|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1185Q|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1224					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTGCGCAGCCGGCCCTGCGCC	0.682000													25	57					0	0	0.003954	0	0
PLCB1	23236	broad.mit.edu	37	20	8630085	8630085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8630085C>T	ENST00000378641.3	+	7	1058	c.583C>T	c.(583-585)Cca>Tca	p.P195S	PLCB1_ENST00000378637.2_Missense_Mutation_p.P195S|PLCB1_ENST00000338037.6_Missense_Mutation_p.P195S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	195					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTGTAGTCTTCCATCTTCAAG	0.408000													36	69					0	0	0.006999	0	0
CHD8	57680	broad.mit.edu	37	14	21894394	21894394	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21894394T>G	ENST00000399982.2	-	4	1673	c.1609A>C	c.(1609-1611)Act>Cct	p.T537P	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.T258P|CHD8_ENST00000557364.1_Missense_Mutation_p.T537P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	537					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)		ACTACAGGAGTGATGGTGCTA	0.353000													14	21					0	0	0.003163	0	0
FLNB	2317	broad.mit.edu	37	3	58154221	58154221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58154221C>T	ENST00000295956.4	+	44	7418	c.7253C>T	c.(7252-7254)tCc>tTc	p.S2418F	FLNB_ENST00000429972.2_Missense_Mutation_p.S2407F|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.S2238F|FLNB_ENST00000493452.1_Missense_Mutation_p.S2225F|FLNB_ENST00000358537.3_Missense_Mutation_p.S2394F|FLNB_ENST00000490882.1_Missense_Mutation_p.S2449F|FLNB_ENST00000348383.5_Missense_Mutation_p.S2377F|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2418	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGACATTATCCGTCACCATC	0.488000													46	60					0	0	0.014410	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118352031	118352031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:118352031G>A	ENST00000528052.1	+	4	379	c.308G>A	c.(307-309)aGc>aAc	p.S103N	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S103N|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S103N|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.S103N			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	103					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GGAGATGAGAGCTGGGTGACA	0.483000													48	48					0	0	0.014410	0	0
TGM6	343641	broad.mit.edu	37	20	2375243	2375243	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:2375243G>A	ENST00000202625.2	+	2	214	c.153G>A	c.(151-153)gaG>gaA	p.E51E	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.E51E	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	51					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGACTGTGAGGAGATCCTCA	0.592000													13	25					0	0	0.013537	0	0
CDSN	1041	broad.mit.edu	37	6	31084228	31084228	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31084228C>T	ENST00000376288.2	-	2	1190	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	388	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGCAGGGTCCCTTGGAGCCCG	0.637000													6	18					0	0	0.001168	0	0
AP3B2	8120	broad.mit.edu	37	15	83333168	83333168	+	Missense_Mutation	SNP	C	C	T	rs34200105		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:83333168C>T	ENST00000261722.3	-	18	2362	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	AP3B2_ENST00000535359.1_Missense_Mutation_p.D738N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.D687N	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	719	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCTTCATTGTCGGACTCACTG	0.572000													36	89					0	0	0.004878	0	0
OBSCN	84033	broad.mit.edu	37	1	228491558	228491558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:228491558C>T	ENST00000570156.2	+	52	13995	c.13921C>T	c.(13921-13923)Cgt>Tgt	p.R4641C	OBSCN_ENST00000366707.4_Missense_Mutation_p.R1331C|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3684	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATTCGTGGCCTGGC	0.597000													75	126					0	0	0.014410	0	0
C5AR1	728	broad.mit.edu	37	19	47823154	47823154	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:47823154C>T	ENST00000355085.3	+	2	142	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	40					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACATCCTGGCCTTGGTCATCT	0.552000													51	77					0	0	0.014410	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871953	51871953	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:51871953G>A	ENST00000371497.5	+	2	2843	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	TSHZ2_ENST00000603338.2_Silent_p.K649K|TSHZ2_ENST00000329613.6_Silent_p.K649K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	652					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)			GTCCCCTGAAGGAGGAGGAGA	0.582000													24	93					0	0	0.003954	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949744	45949744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45949744G>A	ENST00000323084.4	-	5	792	c.727C>T	c.(727-729)Cca>Tca	p.P243S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.P175S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	243					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGACCCGTGGGATGGACAGC	0.637000													29	72					0	0	0.003271	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482006	76482006	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:76482006C>T	ENST00000307431.8	+	6	1018	c.633C>T	c.(631-633)ttC>ttT	p.F211F	CNTNAP4_ENST00000476707.1_Silent_p.F215F|CNTNAP4_ENST00000478060.1_Silent_p.F187F|CNTNAP4_ENST00000377504.4_Silent_p.F211F|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	212					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTGAAATTCAAAACCATGC	0.378000													22	40					0	0	0.014323	0	0
HEPH	9843	broad.mit.edu	37	X	65486505	65486505	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:65486505C>T	ENST00000519389.1	+	21	3809	c.3630C>T	c.(3628-3630)ttC>ttT	p.F1210F	HEPH_ENST00000343002.2_Silent_p.F1156F|HEPH_ENST00000419594.1_Silent_p.F967F|HEPH_ENST00000374727.3_Silent_p.F1159F|HEPH_ENST00000336279.5_Silent_p.F889F|HEPH_ENST00000441993.2_Silent_p.F1158F			Q9BQS7	HEPH_HUMAN	hephaestin	1156					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCTGTCTTTCAAACAGTAAC	0.507000													15	8					0	0	0.002450	0	0
TP63	8626	broad.mit.edu	37	3	189608668	189608668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:189608668G>A	ENST00000264731.3	+	13	1832	c.1743G>A	c.(1741-1743)atG>atA	p.M581I	TP63_ENST00000392460.3_Intron|TP63_ENST00000440651.2_Missense_Mutation_p.M577I|TP63_ENST00000392463.2_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.M483I|TP63_ENST00000449992.1_Missense_Mutation_p.M402I|TP63_ENST00000354600.5_Missense_Mutation_p.M487I|TP63_ENST00000382063.4_Missense_Mutation_p.M496I|TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	581	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATTACTCCATGGATGTAAGTA	0.408000										HNSCC(45;0.13)			20	60					0	0	0.008871	0	0
AFM	173	broad.mit.edu	37	4	74347571	74347571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:74347571C>T	ENST00000226355.3	+	1	172	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	27	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACACAACCTCGGGATATAGG	0.294000													27	51					0	0	0.009535	0	0
DNAH5	1767	broad.mit.edu	37	5	13817791	13817791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13817791G>A	ENST00000265104.4	-	42	6958	c.6854C>T	c.(6853-6855)cCa>cTa	p.P2285L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2285	AAA 2 (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)					TTCCCGATGTGGTTTTCCACA	0.423000									Kartagener syndrome				28	64					0	0	0.010818	0	0
ATAD3B	83858	broad.mit.edu	37	1	1416287	1416287	+	Missense_Mutation	SNP	C	C	T	rs145500839		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1416287C>T	ENST00000308647.7	+	5	601	c.485C>T	c.(484-486)tCc>tTc	p.S162F	ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	162							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CAGGAGGAGTCCGTGCAGAAG	0.552000													36	139					0	0	0.014410	0	0
HTT	3064	broad.mit.edu	37	4	3240606	3240606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:3240606C>T	ENST00000355072.5	+	66	9261	c.9116C>T	c.(9115-9117)tCc>tTc	p.S3039F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	3039					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)		GTCATGCTGTCCCTCTCCAAC	0.652000													8	27					0	0	0.004482	0	0
ZNF645	158506	broad.mit.edu	37	X	22292216	22292216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:22292216G>A	ENST00000323684.1	+	1	1152	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	370						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCAGTTCACCGAAAATCAAGA	0.448000													48	76					0	0	0.014410	0	0
TDRD5	163589	broad.mit.edu	37	1	179620077	179620077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:179620077G>A	ENST00000444136.1	+	12	2126	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	TDRD5_ENST00000367614.1_Missense_Mutation_p.E626K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E626K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	626					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGTAGTGGATGAATATGTAGA	0.398000													59	167					0	0	0.014410	0	0
ARID5A	10865	broad.mit.edu	37	2	97217345	97217345	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:97217345G>A	ENST00000454558.2	+	7	2053	c.876G>A	c.(874-876)agG>agA	p.R292R	ARID5A_ENST00000357485.3_Silent_p.R360R			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	360					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AGCACCCCAGGGACTTCTTCT	0.632000													16	33					0	0	0.004007	0	0
PPP1R10	5514	broad.mit.edu	37	6	30573710	30573710	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30573710G>A	ENST00000376511.2	-	10	1395	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	281	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCTGTGGCGGGATGATCTTCA	0.453000													239	535					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9072587	9072587	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9072587G>A	ENST00000397910.4	-	3	15062	c.14859C>T	c.(14857-14859)tcC>tcT	p.S4953S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4955	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						TGGTTTCTGTGGAGATGTCTA	0.512000													37	94					0	0	0.004878	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702020	96702020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:96702020G>A	ENST00000260682.6	+	3	415	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	135					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCGGAATTTTGGGATGGGGAA	0.502000													45	48					0	0	0.014410	0	0
ADCY1	107	broad.mit.edu	37	7	45753460	45753460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:45753460C>T	ENST00000297323.7	+	20	3248	c.3226C>T	c.(3226-3228)Cca>Tca	p.P1076S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1076					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAAAATGTGTCCATTTGGGAG	0.587000													17	152					0	0	0.006122	0	0
THSD7B	80731	broad.mit.edu	37	2	137928362	137928362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:137928362G>A	ENST00000409968.1	+	7	1755	c.1577G>A	c.(1576-1578)gGg>gAg	p.G526E	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G495E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G526E|THSD7B_ENST00000485379.1_3'UTR					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)		GGGCCTGCAGGGCATTGCCCT	0.473000													11	39					0	0	0.008291	0	0
KLK8	11202	broad.mit.edu	37	19	51503822	51503822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51503822C>T	ENST00000600767.1	-	4	577	c.88G>A	c.(88-90)Gag>Aag	p.E30K	KLK9_ENST00000376832.4_3'UTR|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.E75K|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000347619.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.E30K			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	30					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACCTTGTCCTCCTGTGCCCTG	0.632000													40	62					0	0	0.006999	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101771	69101771	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69101771T>C	ENST00000332644.5	-	4	418	c.257A>G	c.(256-258)cAa>cGa	p.Q86R		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	86	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ACTGGAATTTTGAAATGCATT	0.249000													7	27					0	0	0.001984	0	0
ADCK1	57143	broad.mit.edu	37	14	78353448	78353448	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:78353448C>T	ENST00000238561.5	+	5	537	c.438C>T	c.(436-438)ttC>ttT	p.F146F	ADCK1_ENST00000341211.5_Silent_p.F78F	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	153						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGATTTGTTCCAGAGCTTCG	0.592000													73	196					0	0	0.014410	0	0
TMOD3	29766	broad.mit.edu	37	15	52194155	52194155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:52194155C>T	ENST00000308580.7	+	9	1227	c.946C>T	c.(946-948)Ctt>Ttt	p.L316F	TMOD3_ENST00000544199.1_Missense_Mutation_p.L316F	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	316						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TACAAATATCCTTAAATTTGG	0.368000													32	70					0	0	0.012213	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000													37	50					0	0	0.006999	0	0
FAM196A	642938	broad.mit.edu	37	10	128973812	128973812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:128973812G>A	ENST00000522781.1	-	4	1403	c.848C>T	c.(847-849)cCg>cTg	p.P283L	FAM196A_ENST00000424811.2_Missense_Mutation_p.P283L|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	283										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTCATCTGCCGGGCAGAGTGA	0.662000													29	28					0	0	0.007291	0	0
NOD2	64127	broad.mit.edu	37	16	50765676	50765676	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:50765676C>T	ENST00000300589.2	+	12	3174	c.3069C>T	c.(3067-3069)ttC>ttT	p.F1023F		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	1023					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAACACTTTCTCTCTAGAGG	0.478000													25	54					0	0	0.006320	0	0
MBD5	55777	broad.mit.edu	37	2	149270438	149270438	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:149270438G>A	ENST00000407073.1	+	15	5410		c.e15-1		MBD5_ENST00000404807.1_Splice_Site	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5							chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTTATTTCCAGGTACACCAAA	0.433000													29	99					0	0	0.008361	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589279	140589279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140589279G>A	ENST00000239450.2	+	1	989	c.800G>A	c.(799-801)tGg>tAg	p.W267*	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		267	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCAGCCTGGGATTTAGAC	0.428000													107	214					0	0	0.014410	0	0
SRPK1	6732	broad.mit.edu	37	6	35856695	35856695	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:35856695A>G	ENST00000373825.2	-	4	484	c.199T>C	c.(199-201)Tat>Cat	p.Y67H	SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR|SRPK1_ENST00000423325.2_Missense_Mutation_p.Y51H			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	67					cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ACAAGATGATAACCTCCTGGA	0.363000													61	142					0	0	0.014410	0	0
ADCK3	56997	broad.mit.edu	37	1	227153028	227153028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:227153028C>T	ENST00000366779.1	+	8	3276	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366776.1_Missense_Mutation_p.P94S|ADCK3_ENST00000366778.1_Missense_Mutation_p.P117S|ADCK3_ENST00000366777.3_Missense_Mutation_p.P169S|ADCK3_ENST00000366775.1_Missense_Mutation_p.P14S|ADCK3_ENST00000478406.1_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	169					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGACCAATCCCCTGTTGGGGG	0.617000													15	50					0	0	0.004007	0	0
ACVRL1	94	broad.mit.edu	37	12	52309284	52309284	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52309284G>A	ENST00000550683.1	+	6	1191	c.1090_splice	c.e6+1	p.G364_splice	ACVRL1_ENST00000388922.4_Splice_Site_p.G350_splice|ACVRL1_ENST00000419526.2_Splice_Site_p.G176_splice	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	350	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CGCCGACCTGGGTGAGCCGGG	0.622000													15	36					0	0	0.003163	0	0
COBLL1	22837	broad.mit.edu	37	2	165551228	165551228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:165551228G>A	ENST00000375458.2	-	11	2895	c.2674C>T	c.(2674-2676)Cct>Tct	p.P892S	COBLL1_ENST00000342193.4_Missense_Mutation_p.P930S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P997S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P930S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P968S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	968										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GCAGGATTAGGGGCAGCATGG	0.478000													10	36					0	0	0.008291	0	0
ERMN	57471	broad.mit.edu	37	2	158178150	158178150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:158178150C>T	ENST00000410096.1	-	3	779	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	ERMN_ENST00000420719.2_Missense_Mutation_p.R143Q|ERMN_ENST00000397283.2_Missense_Mutation_p.R176Q|ERMN_ENST00000535935.1_Missense_Mutation_p.R57Q	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	163						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GCTAGGTTTTCGAAATCCCAG	0.418000													47	82					0	0	0.014410	0	0
SSPO	23145	broad.mit.edu	37	7	149481963	149481963	+	RNA	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149481963C>A	ENST00000378016.2	+	0	2753							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCCACTGCCCTTCACAGGGG	0.617000													44	157					2.01872e-29	2.06882e-29	0.014410	1	0
NPNT	255743	broad.mit.edu	37	4	106861298	106861298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:106861298G>A	ENST00000379987.2	+	6	788	c.572G>A	c.(571-573)gGg>gAg	p.G191E	NPNT_ENST00000305572.8_Missense_Mutation_p.G191E|NPNT_ENST00000453617.2_Missense_Mutation_p.G208E|NPNT_ENST00000427316.2_Missense_Mutation_p.G221E|NPNT_ENST00000514622.1_Missense_Mutation_p.G191E|NPNT_ENST00000506666.1_Missense_Mutation_p.G221E	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	191	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AACACTTTTGGGAGCTACATC	0.398000													21	62					0	0	0.010504	0	0
SPIB	6689	broad.mit.edu	37	19	50923207	50923207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:50923207G>A	ENST00000595883.1	+	2	53	c.28G>A	c.(28-30)Gac>Aac	p.D10N	SPIB_ENST00000597855.1_Missense_Mutation_p.D10N|SPIB_ENST00000270632.7_Missense_Mutation_p.D10N|SPIB_ENST00000596074.1_Missense_Mutation_p.D10N|SPIB_ENST00000439922.2_5'UTR	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	10	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTCCAGGCTCGACGGGCCACA	0.647000													14	13					0	0	0.004990	0	0
ALOX15B	247	broad.mit.edu	37	17	7943291	7943291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7943291G>A	ENST00000380183.4	+	3	578	c.439G>A	c.(439-441)Gag>Aag	p.E147K	ALOX15B_ENST00000573359.1_Missense_Mutation_p.E147K|ALOX15B_ENST00000380173.2_Missense_Mutation_p.E147K|ALOX15B_ENST00000572022.1_Missense_Mutation_p.E147K	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	147	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						GGCCCGGCAGGAGATGTACCA	0.607000													27	45					0	0	0.004656	0	0
DOCK3	1795	broad.mit.edu	37	3	51284163	51284163	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:51284163C>T	ENST00000266037.9	+	22	2132	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	703						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCAGGGAGCTCATCCGCTGTT	0.428000													12	50					0	0	0.003163	0	0
PDE11A	50940	broad.mit.edu	37	2	178879164	178879164	+	Silent	SNP	G	G	A	rs144284382		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:178879164G>A	ENST00000286063.5	-	2	1253	c.936C>T	c.(934-936)atC>atT	p.I312I	PDE11A_ENST00000358450.4_Silent_p.I62I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	312	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.I62I(1)|p.I312I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTAGCTTGTCGATTTCATCAT	0.393000									Primary Pigmented Nodular Adrenocortical Disease, Familial				13	31					0	0	0.013537	0	0
RHOU	58480	broad.mit.edu	37	1	228871726	228871726	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:228871726C>T	ENST00000366691.3	+	1	903	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	79					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CCGAGTACATCCCTACTGCCT	0.716000													28	48					0	0	0.010818	0	0
ZNF675	171392	broad.mit.edu	37	19	23837110	23837110	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:23837110C>A	ENST00000359788.4	-	4	793	c.625G>T	c.(625-627)Gtt>Ttt	p.V209F	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	209				Missing (in Ref. 2; BAC04216).	bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GATTGGTTAACAGCTTTTTCA	0.323000													28	19					4.59853e-10	4.68326e-10	0.005443	1	0
SLC17A6	57084	broad.mit.edu	37	11	22399224	22399224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:22399224G>A	ENST00000263160.3	+	12	2124	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	563					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAAGAAAGAGGAATTTGTACA	0.363000													5	46					0	0	0.000602	0	0
ZP4	57829	broad.mit.edu	37	1	238048779	238048779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:238048779G>A	ENST00000366570.4	-	8	1230	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	358	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCCAGGTAGGGGTCTGTTCTG	0.537000													30	59					0	0	0.008361	0	0
MALAT1	378938	broad.mit.edu	37	11	65272040	65272040	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65272040G>A	ENST00000534336.1	+	0	6808					NR_002819.2																						GATTGAAGCTGAGTACATTTT	0.393000													23	30					0	0	0.014323	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788196	3788196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:3788196C>T	ENST00000440314.2	-	6	882	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.E137K|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.E137K	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	137					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			ACCTTCTCTTCATGGCGCTGG	0.557000													32	80					0	0	0.012213	0	0
FLNB	2317	broad.mit.edu	37	3	58155360	58155360	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58155360C>T	ENST00000295956.4	+	45	7626	c.7461C>T	c.(7459-7461)tcC>tcT	p.S2487S	FLNB_ENST00000429972.2_Silent_p.S2476S|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Silent_p.S2307S|FLNB_ENST00000493452.1_Silent_p.S2294S|FLNB_ENST00000358537.3_Silent_p.S2463S|FLNB_ENST00000490882.1_Silent_p.S2518S|FLNB_ENST00000348383.5_Silent_p.S2446S|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2487	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).			S -> C (in Ref. 11; AAA35505).	actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACCTCATCCATCCTGGTGG	0.587000													83	350					0	0	0.014410	0	0
PRR23A	729627	broad.mit.edu	37	3	138724853	138724853	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138724853C>T	ENST00000383163.2	-	1	257	c.258G>A	c.(256-258)tcG>tcA	p.S86S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	86										endometrium(3)|kidney(1)|lung(7)	11						CTCGCAGGATCGACGTTGGCG	0.662000													10	45					0	0	0.006214	0	0
OTOR	56914	broad.mit.edu	37	20	16729070	16729070	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:16729070C>T	ENST00000246081.2	+	1	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	8					sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGTTACTTTTCCTCCCGGGTC	0.443000													72	164					0	0	0.014410	0	0
PTPRC	5788	broad.mit.edu	37	1	198703337	198703337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:198703337C>T	ENST00000367376.2	+	21	2320	c.2149C>T	c.(2149-2151)Ccc>Tcc	p.P717S	PTPRC_ENST00000348564.6_Missense_Mutation_p.P558S|PTPRC_ENST00000352140.3_Missense_Mutation_p.P669S|PTPRC_ENST00000594404.1_Missense_Mutation_p.P556S|PTPRC_ENST00000442510.2_Missense_Mutation_p.P719S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTCAAAGAACCCAGGAAATA	0.299000													8	29					0	0	0.003080	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066222	128066222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:128066222G>A	ENST00000409947.1	-	16	1855	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	MAP3K2_ENST00000344908.5_Missense_Mutation_p.P525S			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	525	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATCCAGTATGGTGTGCCCGTG	0.488000													56	154					0	0	0.014410	0	0
HOMER2	9455	broad.mit.edu	37	15	83544044	83544044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:83544044G>A	ENST00000304231.8	-	3	467	c.275C>T	c.(274-276)tCt>tTt	p.S92F	HOMER2_ENST00000450735.2_Missense_Mutation_p.S92F|HOMER2_ENST00000399166.2_Missense_Mutation_p.S92F|HOMER2_ENST00000426485.1_Missense_Mutation_p.S92F	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	92	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						CTGCTGCTCAGAGGAAAACCC	0.517000													21	49					0	0	0.010504	0	0
CCDC178	374864	broad.mit.edu	37	18	30672787	30672787	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:30672787T>C	ENST00000383096.3	-	21	2508	c.2326A>G	c.(2326-2328)Aat>Gat	p.N776D	CCDC178_ENST00000403303.1_Missense_Mutation_p.N776D|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.N776D|CCDC178_ENST00000583930.1_Missense_Mutation_p.N776D|CCDC178_ENST00000300227.8_Missense_Mutation_p.N738D|CCDC178_ENST00000579947.1_Missense_Mutation_p.N776D|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000581852.1_Intron					coiled-coil domain containing 178																		TTGAAATAATTGTCCTTTTCT	0.279000													19	30					0	0	0.008871	0	0
DSG4	147409	broad.mit.edu	37	18	28968889	28968889	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:28968889A>G	ENST00000359747.4	+	5	454	c.425A>G	c.(424-426)gAg>gGg	p.E142G	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E142G|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	142	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCCTCTTGAGCTTAGAGTC	0.398000													31	35					0	0	0.008361	0	0
OR1D2	4991	broad.mit.edu	37	17	2995956	2995956	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:2995956T>C	ENST00000331459.1	-	1	334	c.335A>G	c.(334-336)aAc>aGc	p.N112S		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	112					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGGATGAGGTTGTCCAGGGC	0.547000													46	56					0	0	0.014410	0	0
CT47B1	643311	broad.mit.edu	37	X	120008992	120008992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:120008992C>T	ENST00000371311.3	-	1	787	c.533G>A	c.(532-534)gGg>gAg	p.G178E		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	178										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGCTGCAGCCCCTGCACCCAG	0.701000													42	60					0	0	0.008740	0	0
KCNT1	57582	broad.mit.edu	37	9	138662882	138662882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:138662882G>A	ENST00000298480.5	+	18	2023	c.1949G>A	c.(1948-1950)gGg>gAg	p.G650E	KCNT1_ENST00000487664.1_Missense_Mutation_p.G605E|KCNT1_ENST00000263604.3_Missense_Mutation_p.G631E|KCNT1_ENST00000371757.2_Missense_Mutation_p.G650E|KCNT1_ENST00000491806.2_Missense_Mutation_p.G617E|KCNT1_ENST00000490355.2_Missense_Mutation_p.G631E|KCNT1_ENST00000486577.2_Missense_Mutation_p.G611E|KCNT1_ENST00000488444.2_Missense_Mutation_p.G631E			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	650						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCTTCTCGGGGCAGGGGCTG	0.657000													11	24					0	0	0.008291	0	0
TRIM35	23087	broad.mit.edu	37	8	27145626	27145626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:27145626G>A	ENST00000305364.4	-	6	1006	c.923C>T	c.(922-924)cCc>cTc	p.P308L	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	308	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TGCGGTGTTGGGGTCAAAGCT	0.597000													39	65					0	0	0.006230	0	0
INSL3	3640	broad.mit.edu	37	19	17927841	17927841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17927841C>T	ENST00000379695.5	-	3	380	c.313G>A	c.(313-315)Gac>Aac	p.D105N	INSL3_ENST00000317306.7_Missense_Mutation_p.R73Q	NM_001265587.1	NP_001252516.1	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	0					cell-cell signaling|spermatogenesis	soluble fraction	hormone activity|insulin receptor binding|signal transducer activity			breast(1)|lung(1)	2						GAGCAGATGTCGTCTCTCCAG	0.602000													44	60					0	0	0.013114	0	0
KRT78	196374	broad.mit.edu	37	12	53237949	53237949	+	Silent	SNP	C	C	T	rs140207612		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53237949C>T	ENST00000359499.4	-	6	656	c.645G>A	c.(643-645)acG>acA	p.T215T	KRT78_ENST00000304620.4_Silent_p.T325T			Q8N1N4	K2C78_HUMAN	keratin 78	325	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTGGACTTTCGTTTCCTGCA	0.532000													95	249					0	0	0.014410	0	0
HGF	3082	broad.mit.edu	37	7	81381451	81381451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:81381451G>A	ENST00000222390.5	-	5	836	c.610C>T	c.(610-612)Cct>Tct	p.P204S	HGF_ENST00000457544.2_Missense_Mutation_p.P199S|HGF_ENST00000453411.1_Missense_Mutation_p.P199S|HGF_ENST00000423064.2_Missense_Mutation_p.P204S|HGF_ENST00000444829.2_Missense_Mutation_p.P204S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	204	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GAACACTGAGGAATGTCACAG	0.458000													14	46					0	0	0.003163	0	0
MTRF1L	54516	broad.mit.edu	37	6	153314014	153314014	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:153314014G>A	ENST00000367233.5	-	5	782	c.783C>T	c.(781-783)gtC>gtT	p.V261V	MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.V225V|MTRF1L_ENST00000367231.5_Silent_p.V261V	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	261						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GAACTATCCGGACAGCACTGT	0.388000													60	96					0	0	0.014410	0	0
ADCY1	107	broad.mit.edu	37	7	45725734	45725734	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:45725734C>T	ENST00000297323.7	+	13	2269	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	749					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGGTGTCCTCCTTGCCAAAAA	0.602000													48	90					0	0	0.014410	0	0
ABCC9	10060	broad.mit.edu	37	12	21960358	21960358	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21960358A>T	ENST00000261200.4	-	36	4370	c.4371T>A	c.(4369-4371)ttT>ttA	p.F1457L	ABCC9_ENST00000345162.2_Missense_Mutation_p.F1421L|ABCC9_ENST00000261201.4_Missense_Mutation_p.F1457L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1457	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGGCAAGGCAAAATAGCTGTC	0.438000													16	55					0	0	0.004007	0	0
GPR78	27201	broad.mit.edu	37	4	8582718	8582718	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:8582718C>T	ENST00000382487.4	+	1	426	c.9C>T	c.(7-9)ccC>ccT	p.P3P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	3					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCATGGGCCCCGGCGAGGCGC	0.682000													9	20					0	0	0.006214	0	0
RUSC2	9853	broad.mit.edu	37	9	35555488	35555488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35555488C>T	ENST00000455600.1	+	3	3015	c.2446C>T	c.(2446-2448)Cca>Tca	p.P816S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	816						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAGCCTGCCCCCATGGAGCCA	0.627000													82	119					0	0	0.014410	0	0
IFIH1	64135	broad.mit.edu	37	2	163163287	163163287	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:163163287T>C	ENST00000263642.2	-	3	1096	c.701A>G	c.(700-702)gAg>gGg	p.E234G		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	234					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						GACCTCCTTCTCCAGATTTGG	0.383000													19	64					0	0	0.008871	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862794	10862794	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:10862794G>A	ENST00000559480.1	+	0	90																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGGCTGAGGTGAAGAAGCCTG	0.567000													15	148					0	0	0.004990	0	0
RET	5979	broad.mit.edu	37	10	43604645	43604645	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:43604645C>T	ENST00000355710.3	+	6	1462	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	RET_ENST00000340058.5_Silent_p.L410L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	410					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTACTCCCTCTCCGTGAGCA	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				28	38					0	0	0.007291	0	0
C12orf52	84934	broad.mit.edu	37	12	113629415	113629415	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:113629415C>T	ENST00000548278.1	+	4	1295	c.603C>T	c.(601-603)tcC>tcT	p.S201S	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.S225S|C12orf52_ENST00000549621.1_Silent_p.S201S	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	201	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTTCCCATTCCCTCACCCACC	0.612000													26	88					0	0	0.003954	0	0
CGNL1	84952	broad.mit.edu	37	15	57731026	57731026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:57731026C>T	ENST00000281282.5	+	2	907	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	277	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGATGTTCTTCCCTTCCGGCG	0.612000													30	60					0	0	0.008361	0	0
RTTN	25914	broad.mit.edu	37	18	67844067	67844067	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:67844067G>A	ENST00000255674.6	-	11	1606	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	RTTN_ENST00000454359.1_Silent_p.L440L|RTTN_ENST00000437017.1_Silent_p.L440L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	440							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCAACACCAGGAGTAGTTTCT	0.418000													37	62					0	0	0.005524	0	0
RABL6	55684	broad.mit.edu	37	9	139718065	139718065	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139718065C>T	ENST00000371663.4	+	2	494	c.219C>T	c.(217-219)atC>atT	p.I73I	RABL6_ENST00000311502.7_Silent_p.I73I|RABL6_ENST00000357466.2_Silent_p.I73I|RABL6_ENST00000371671.4_Silent_p.I73I|RABL6_ENST00000432842.2_Silent_p.I35I	NM_001173988.1|NM_024718.4	NP_001167459.1|NP_078994.3			RAB, member RAS oncogene family-like 6																		AGGAGTACATCCCCACACAGG	0.627000													23	29					0	0	0.002780	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688910	26688910	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:26688910G>A	ENST00000529632.2	+	2	829	c.633G>A	c.(631-633)gtG>gtA	p.V211V	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.V211V|SEZ6L_ENST00000248933.6_Silent_p.V211V|SEZ6L_ENST00000343706.4_Silent_p.V211V|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Silent_p.V211V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	211						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGCCCTATGTGGCCCACACAC	0.652000													50	200					0	0	0.014410	0	0
PCDH18	54510	broad.mit.edu	37	4	138451960	138451960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:138451960C>T	ENST00000344876.4	-	1	1669	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	PCDH18_ENST00000412923.2_Missense_Mutation_p.R428K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R208K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	428	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATACTCAGATCTCTTTTCTCT	0.353000													30	59					0	0	0.007291	0	0
RAB5A	5868	broad.mit.edu	37	3	20017216	20017216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:20017216C>T	ENST00000273047.4	+	3	823	c.287C>T	c.(286-288)gCc>gTc	p.A96V	RAB5A_ENST00000422242.1_Missense_Mutation_p.A82V	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	96					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						GCACAAGCAGCCATAGTTGTA	0.373000													25	96					0	0	0.004656	0	0
ENTPD1	953	broad.mit.edu	37	10	97625967	97625967	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:97625967T>C	ENST00000371203.5	+	9	1533	c.946T>C	c.(946-948)Tac>Cac	p.Y316H	ENTPD1_ENST00000539125.1_Missense_Mutation_p.Y316H|ENTPD1_ENST00000371205.4_Missense_Mutation_p.Y454H|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000371207.3_Missense_Mutation_p.Y466H|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.Y346H|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Y461H	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	454					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GACTTTGGGCTACATGCTGAA	0.522000													16	29					0	0	0.007413	0	0
IMPG2	50939	broad.mit.edu	37	3	100963295	100963295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:100963295G>A	ENST00000193391.7	-	13	2067	c.1880C>T	c.(1879-1881)cCa>cTa	p.P627L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	627					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTGGACAGTGGTTCAGCGCT	0.438000													69	72					0	0	0.014410	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017842	161017842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161017842C>T	ENST00000368013.3	-	12	3289	c.2969G>A	c.(2968-2970)aGg>aAg	p.R990K	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R779K|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R813K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	990					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCCCCATTCCTCCAAGAGGA	0.597000													99	148					0	0	0.014410	0	0
KLK14	43847	broad.mit.edu	37	19	51582952	51582952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51582952G>A	ENST00000391802.1	-	5	486	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	KLK14_ENST00000156499.2_Nonsense_Mutation_p.Q90*	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	90	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		AGGGCAACCTGAAGGATCCTG	0.662000													3	9					0	0	0.004672	0	0
GADL1	339896	broad.mit.edu	37	3	30885920	30885920	+	Silent	SNP	C	C	T	rs148964604		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:30885920C>T	ENST00000454381.3	-	7	736	c.690G>A	c.(688-690)ggG>ggA	p.G230G	GADL1_ENST00000282538.5_Silent_p.G230G			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	230					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CAGTGCCAATCCCAAGAAAAG	0.433000													99	131					0	0	0.014410	0	0
ASIC5	51802	broad.mit.edu	37	4	156773440	156773440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:156773440C>T	ENST00000537611.2	-	4	660	c.614G>A	c.(613-615)gGa>gAa	p.G205E		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	205						integral to membrane|plasma membrane											AAAACAATTTCCATATTCAGT	0.343000													6	35					0	0	0.001168	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818882	159818882	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:159818882G>A	ENST00000497452.1	-	0	517																											gggagaaaacggagaagagtt	0.458000													170	738					0	0	0.014410	0	0
SP140L	93349	broad.mit.edu	37	2	231256845	231256845	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:231256845C>T	ENST00000243810.6	+	12	1008	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SP140L_ENST00000415673.2_Silent_p.F336F|SP140L_ENST00000396563.4_Silent_p.F301F|SP140L_ENST00000444636.1_Silent_p.F336F			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	336	SAND.					nucleus	DNA binding|metal ion binding	p.F336F(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAAAATGGTTCACCCCCATGG	0.527000													27	63					0	0	0.004656	0	0
ZNF831	128611	broad.mit.edu	37	20	57829536	57829536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:57829536C>T	ENST00000371030.2	+	5	4772	c.4772C>T	c.(4771-4773)cCt>cTt	p.P1591L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1591						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACGTTTTTTCCTTCCAGAGGC	0.478000													29	81					0	0	0.007291	0	0
NSUN7	79730	broad.mit.edu	37	4	40776902	40776902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:40776902C>T	ENST00000381782.2	+	6	1255	c.760C>T	c.(760-762)Cca>Tca	p.P254S	NSUN7_ENST00000316607.5_Missense_Mutation_p.P254S|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTAATTTTTCCATCTCATCT	0.264000													23	49					0	0	0.012319	0	0
OR4C3	256144	broad.mit.edu	37	11	48346802	48346802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48346802C>T	ENST00000319856.4	+	1	331	c.310C>T	c.(310-312)Cct>Tct	p.P104S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCTATGGCTCCTAAACTCAT	0.463000													46	190					0	0	0.014410	0	0
ATP2B2	491	broad.mit.edu	37	3	10491134	10491134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:10491134G>A	ENST00000397077.1	-	4	669	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R32C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R32C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R32C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R32C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	32					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATGAGGGAGCGGAGCTCCTCC	0.557000													72	100					0	0	0.014410	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526761	78526761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:78526761C>T	ENST00000258873.4	-	1	288	c.83G>A	c.(82-84)aGc>aAc	p.S28N	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	28					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTCCTGCCGGCTCTCCTGTGG	0.567000													161	356					0	0	0.014410	0	0
C14orf37	145407	broad.mit.edu	37	14	58605247	58605247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:58605247G>A	ENST00000267485.7	-	2	1024	c.830C>T	c.(829-831)tCc>tTc	p.S277F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	277						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGTGTACTCGGAAGTTTCGAG	0.557000													61	86					0	0	0.014410	0	0
COL10A1	1300	broad.mit.edu	37	6	116442864	116442864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:116442864C>T	ENST00000327673.4	-	2	822	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	AL121963.1_ENST00000430695.1_Missense_Mutation_p.P82L|COL10A1_ENST00000243222.4_Missense_Mutation_p.G139S|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	139	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCTGGTGGGCCCCGGGGTCCT	0.607000													19	25					0	0	0.007413	0	0
OR51G1	79324	broad.mit.edu	37	11	4944799	4944799	+	Missense_Mutation	SNP	C	C	T	rs139551574	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4944799C>T	ENST00000321961.2	-	1	838	c.771G>A	c.(769-771)atG>atA	p.M257I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAGCCAATCATGGGGATGT	0.532000													30	49					0	0	0.007291	0	0
SHANK1	50944	broad.mit.edu	37	19	51165511	51165511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51165511C>T	ENST00000293441.1	-	23	6215	c.6197G>A	c.(6196-6198)gGg>gAg	p.G2066E	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2074E|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1453E|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2057E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2066					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAGGCTCCCCCGAGCCCCCC	0.687000													16	25					0	0	0.004990	0	0
MED12L	116931	broad.mit.edu	37	3	150881731	150881731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:150881731G>A	ENST00000474524.1	+	8	1197	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	MED12L_ENST00000422248.2_Missense_Mutation_p.E387K|MED12L_ENST00000309237.4_Missense_Mutation_p.E387K|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	387					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCACAAATGAAAATAAGAG	0.517000													25	86					0	0	0.003330	0	0
KRT75	9119	broad.mit.edu	37	12	52827812	52827812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52827812C>T	ENST00000252245.5	-	1	497	c.277G>A	c.(277-279)Gga>Aga	p.G93R		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	93	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGTTGACTCCAAACCTGTTG	0.617000													48	125					0	0	0.014410	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740201	37740201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:37740201C>T	ENST00000539465.1	+	15	2269	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	FRMPD1_ENST00000536622.1_Missense_Mutation_p.P381L|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P559L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.P428L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	559						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGAGCAGCCTCCTGGGAAC	0.632000													37	115					0	0	0.004878	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776622	159776622	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:159776622G>A	ENST00000393975.3	-	3	549	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	137	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)			AGGGGCCTGGGAGGCCTGGCT	0.662000													111	173					0	0	0.014410	0	0
HAUS4	54930	broad.mit.edu	37	14	23417130	23417130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23417130G>A	ENST00000206474.7	-	7	907	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	HAUS4_ENST00000555367.1_Nonsense_Mutation_p.Q174*|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.P48L|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000342454.8_Nonsense_Mutation_p.Q174*|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000490506.1_Nonsense_Mutation_p.Q95*|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Nonsense_Mutation_p.Q174*|HAUS4_ENST00000554446.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Nonsense_Mutation_p.Q219*			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	219					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCCTTCTGCTGGCTCTTGGCA	0.557000													36	79					0	0	0.003271	0	0
TMEM237	65062	broad.mit.edu	37	2	202492842	202492842	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202492842G>A	ENST00000409444.2	-	10	1193	c.876C>T	c.(874-876)atC>atT	p.I292I	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409883.2_Silent_p.I300I	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	324						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						AAAAATTTCGGATTGCTACTG	0.323000													10	24					0	0	0.010729	0	0
POU1F1	5449	broad.mit.edu	37	3	87313549	87313549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:87313549C>T	ENST00000350375.2	-	3	452	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	POU1F1_ENST00000560656.1_Missense_Mutation_p.E110K|POU1F1_ENST00000344265.3_Missense_Mutation_p.E136K	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	110					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CGCCTGAGTTCCTGCTTGAAA	0.433000													58	80					0	0	0.014410	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148891409	148891409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:148891409C>T	ENST00000261798.5	-	6	1055	c.623G>A	c.(622-624)gGa>gAa	p.G208E	CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.G208E|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	208	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CAAAACATATCCTAATGATTC	0.333000													5	92					0	0	0.001168	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692313	31692313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:31692313C>T	ENST00000360542.3	-	1	294	c.41G>A	c.(40-42)gGa>gAa	p.G14E		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	14						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TCTGAGAGATCCTGAGTTGGA	0.517000													6	24					0	0	0.001168	0	0
CYTIP	9595	broad.mit.edu	37	2	158272595	158272595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:158272595C>T	ENST00000264192.3	-	8	795	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CYTIP_ENST00000540637.1_Missense_Mutation_p.G119E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	225					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGGCAGGGGTCCAAACAAAGA	0.498000													16	54					0	0	0.006122	0	0
SAGE1	55511	broad.mit.edu	37	X	134991026	134991026	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:134991026C>A	ENST00000535938.1	+	13	1612	c.1445C>A	c.(1444-1446)gCt>gAt	p.A482D	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.A482D|SAGE1_ENST00000324447.3_Missense_Mutation_p.A482D	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	482										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTTCCAGATGCTACCATTACT	0.433000													37	59					1.96642e-18	2.01042e-18	0.006999	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57872935	57872935	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57872935C>T	ENST00000393797.2	-	5	660	c.468G>A	c.(466-468)gaG>gaA	p.E156E	ARHGAP9_ENST00000550288.1_Silent_p.E164E|ARHGAP9_ENST00000424809.2_Silent_p.E85E|ARHGAP9_ENST00000356411.2_Silent_p.E85E|ARHGAP9_ENST00000393791.3_Silent_p.E85E			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	85					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGATGGATTCCTCTATCATAT	0.557000													73	176					0	0	0.014410	0	0
DIP2A	23181	broad.mit.edu	37	21	47918537	47918537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47918537C>T	ENST00000318711.7	+	5	629	c.446C>T	c.(445-447)cCc>cTc	p.P149L	DIP2A_ENST00000427143.2_Missense_Mutation_p.P85L|DIP2A_ENST00000466639.1_Missense_Mutation_p.P149L|DIP2A_ENST00000417564.2_Missense_Mutation_p.P149L|DIP2A_ENST00000400274.1_Missense_Mutation_p.P149L|DIP2A_ENST00000457905.3_Missense_Mutation_p.P149L|DIP2A_ENST00000435722.3_Missense_Mutation_p.P149L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	149					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTACGGCGACCCGGGCGACTC	0.587000													100	258					0	0	0.014410	0	0
TNIK	23043	broad.mit.edu	37	3	170912325	170912325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:170912325C>T	ENST00000436636.2	-	5	750	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	TNIK_ENST00000470834.1_Missense_Mutation_p.E136K|TNIK_ENST00000369326.5_Missense_Mutation_p.E136K|TNIK_ENST00000341852.6_Missense_Mutation_p.E136K|TNIK_ENST00000488470.1_Missense_Mutation_p.E136K|TNIK_ENST00000357327.5_Missense_Mutation_p.E136K|TNIK_ENST00000284483.8_Missense_Mutation_p.E136K|TNIK_ENST00000475336.1_Missense_Mutation_p.E136K|TNIK_ENST00000538048.1_Missense_Mutation_p.E136K|TNIK_ENST00000460047.1_Missense_Mutation_p.E136K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	136	Protein kinase.				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)			CGTAAGATTTCCCTGCAGATG	0.458000													47	188					0	0	0.014410	0	0
TF	7018	broad.mit.edu	37	3	133467361	133467361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:133467361C>T	ENST00000402696.3	+	2	634	c.149C>T	c.(148-150)cCa>cTa	p.P50L	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	50	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGCGTCATTCCATCCGATGGT	0.512000													30	105					0	0	0.008361	0	0
BRINP2	57795	broad.mit.edu	37	1	177249876	177249876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177249876G>A	ENST00000361539.4	+	8	1876	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		522						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCAGAAGCAGGATAGCCGCAT	0.577000													34	56					0	0	0.010818	0	0
GPSM1	26086	broad.mit.edu	37	9	139252507	139252507	+	Silent	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139252507A>G	ENST00000440944.1	+	14	2083	c.1863A>G	c.(1861-1863)gtA>gtG	p.V621V	GPSM1_ENST00000429455.1_Silent_p.V112V|GPSM1_ENST00000392944.1_Silent_p.V112V	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	621					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CACCTGACGTACTGCCCCGGG	0.687000													28	82					0	0	0.012213	0	0
ANK2	287	broad.mit.edu	37	4	114274809	114274809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:114274809G>A	ENST00000357077.4	+	38	5088	c.5035G>A	c.(5035-5037)Ggg>Agg	p.G1679R	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G1646R|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1646					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAAAGGAAGGGAAAGACAT	0.463000													7	54					0	0	0.001984	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792909	65792909	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65792909G>A	ENST00000312106.5	-	1	1079	c.942C>T	c.(940-942)ctC>ctT	p.L314L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	314	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTCGCCATGGAGGTAACTGG	0.597000													22	35					0	0	0.003330	0	0
OR1L8	138881	broad.mit.edu	37	9	125330095	125330095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125330095C>T	ENST00000304865.2	-	1	743	c.662G>A	c.(661-663)cGa>cAa	p.R221Q		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGTGAGGATTCGTATATAAGA	0.428000													8	34					0	0	0.004482	0	0
SBK1	388228	broad.mit.edu	37	16	28331843	28331843	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:28331843C>T	ENST00000341901.4	+	4	1665	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	292	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGCGCATGTTCCAGCGCTTAC	0.726000													5	15					0	0	0.000602	0	0
MYH7	4625	broad.mit.edu	37	14	23896073	23896073	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23896073C>T	ENST00000355349.3	-	18	2119	c.1956_splice	c.e18-1	p.E653_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	653	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGATTTTCCTGTGGCCAA	0.438000													25	72					0	0	0.003330	0	0
NCF2	4688	broad.mit.edu	37	1	183546757	183546757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:183546757G>A	ENST00000413720.1	-	3	617	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	NCF2_ENST00000418089.1_Nonsense_Mutation_p.Q115*|NCF2_ENST00000367536.1_Nonsense_Mutation_p.Q115*|NCF2_ENST00000367535.3_Nonsense_Mutation_p.Q115*	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	115					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AGCTTGAACTGGAGCCCCAGG	0.517000													61	179					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179452410	179452410	+	Missense_Mutation	SNP	C	C	T	rs148684589	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179452410C>T	ENST00000589042.1	-	306	63850	c.63626G>A	c.(63625-63627)cGa>cAa	p.R21209Q	TTN_ENST00000591111.1_Missense_Mutation_p.R19568Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12144Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12269Q|TTN_ENST00000342992.6_Missense_Mutation_p.R18641Q|TTN_ENST00000342175.6_Missense_Mutation_p.R12336Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19568	Fibronectin type-III 54.						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)			GCCAACTTTTCGCCAAGTGAC	0.478000													13	22					0	0	0.013537	0	0
NEURL4	84461	broad.mit.edu	37	17	7221234	7221234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7221234G>A	ENST00000399464.2	-	26	4093	c.4078C>T	c.(4078-4080)Ccg>Tcg	p.P1360S	NEURL4_ENST00000570460.1_Missense_Mutation_p.P1336S|RP11-542C16.2_ENST00000575474.1_Silent_p.L173L|NEURL4_ENST00000315614.7_Missense_Mutation_p.P1358S|NEURL4_ENST00000574120.1_5'UTR	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.P1358S(1)|p.P1360S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCTTTGGCGGAGGCATGAAA	0.612000													40	64					0	0	0.010771	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798390	185798390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:185798390G>A	ENST00000302277.6	+	3	910	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	106						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCCAGGAAAGATGAAAGAAA	0.373000													12	36					0	0	0.001855	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599328	151599328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151599328G>A	ENST00000362032.4	+	3	1102	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	333						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TTCATTCAGAGAAAAGTGAGG	0.413000													33	55					0	0	0.004289	0	0
FAM3B	54097	broad.mit.edu	37	21	42694869	42694869	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:42694869C>T	ENST00000398652.3	+	3	222	c.156C>T	c.(154-156)ttC>ttT	p.F52F	FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398646.3_Silent_p.F36F|FAM3B_ENST00000357985.2_Silent_p.F13F|FAM3B_ENST00000479810.2_3'UTR			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	13					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGGTGGTGTTCGTGGTCTTCG	0.627000													35	113					0	0	0.005524	0	0
IKBKE	9641	broad.mit.edu	37	1	206648315	206648315	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:206648315C>T	ENST00000367120.3	+	5	709	c.336C>T	c.(334-336)ttC>ttT	p.F112F	IKBKE_ENST00000537984.1_Silent_p.F27F|IKBKE_ENST00000462698.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	112	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					AGGATGAGTTCCTGGTGGTGC	0.632000													37	92					0	0	0.013114	0	0
PREX2	80243	broad.mit.edu	37	8	68981328	68981328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:68981328G>A	ENST00000288368.4	+	12	1677	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	467					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TATGATGATGGAACATTTTAT	0.338000													10	38					0	0	0.006214	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722784	58722784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:58722784G>A	ENST00000300079.5	+	6	592	c.542G>A	c.(541-543)gGa>gAa	p.G181E	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.G150E	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	150						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGCAAGCTTGGAAGCTGGGCT	0.408000													36	48					0	0	0.013726	0	0
COL6A2	1292	broad.mit.edu	37	21	47542846	47542846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47542846G>A	ENST00000300527.4	+	21	1770	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	COL6A2_ENST00000397763.1_Missense_Mutation_p.E556K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E556K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E556K|COL6A2_ENST00000357838.4_Missense_Mutation_p.E556K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	556	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGAGAAAGGAGAGCCTGTGAG	0.602000													30	86					0	0	0.012213	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078102	90078102	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:90078102C>T	ENST00000390270.2	+	0	236																											CGGGGCCAGTCAGAGTGTTAG	0.582000													44	40					0	0	0.008740	0	0
FMO1	2326	broad.mit.edu	37	1	171251360	171251360	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171251360C>T	ENST00000354841.4	+	6	1202	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	FMO1_ENST00000402921.2_Silent_p.F294F|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.F357F			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	357					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTATATCTTCCCTGCACATC	0.483000													47	75					0	0	0.014410	0	0
GEMIN5	25929	broad.mit.edu	37	5	154270981	154270981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:154270981G>A	ENST00000285873.7	-	26	4157	c.4082C>T	c.(4081-4083)tCa>tTa	p.S1361L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1361					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGCTTTTCTGAAAAGAGCTC	0.458000													61	92					0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6204750	6204750	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6204750C>T	ENST00000261405.5	-	6	787	c.532_splice	c.e6-1	p.G178_splice	VWF_ENST00000572068.1_Splice_Site_p.G215_splice	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	178	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTCAAGGTCCCTGTGGAGGA	0.498000													41	160					0	0	0.009718	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22864315	22864315	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:22864315T>C	ENST00000283645.4	+	16	2403	c.2273T>C	c.(2272-2274)cTt>cCt	p.L758P	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.L758P	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	758					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTGTCTTTTCTTAATGTCCAA	0.348000													47	109					0	0	0.011902	0	0
ARL13A	392509	broad.mit.edu	37	X	100240691	100240691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:100240691G>A	ENST00000450049.2	+	4	279	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	56							GTP binding			endometrium(1)|ovary(1)	2						CATGAAATCGGAACTGACTAC	0.448000													29	48					0	0	0.013726	0	0
BAI3	577	broad.mit.edu	37	6	69666069	69666069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:69666069C>T	ENST00000370598.1	+	7	2170	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	450	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGCTATAACCCTGAATGTACA	0.517000													5	8					0	0	0.001984	0	0
OR52D1	390066	broad.mit.edu	37	11	5510839	5510839	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5510839G>A	ENST00000322641.5	+	1	925	c.903G>A	c.(901-903)aaG>aaA	p.K301K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGAACCAAGGAGATTCGGA	0.453000													11	40					0	0	0.008291	0	0
ABCA7	10347	broad.mit.edu	37	19	1055172	1055172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:1055172C>T	ENST00000263094.6	+	30	4258	c.4027C>T	c.(4027-4029)Cca>Tca	p.P1343S	ABCA7_ENST00000435683.2_Missense_Mutation_p.P1205S|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1343S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1343					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCATCCCCAGCCTGCCA	0.682000													7	28					0	0	0.001984	0	0
TENM1	10178	broad.mit.edu	37	X	123838900	123838900	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:123838900G>A	ENST00000422452.2	-	5	1041	c.978C>T	c.(976-978)atC>atT	p.I326I	TENM1_ENST00000371130.3_Silent_p.I326I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAGTCACTGTGATTGCAGTGG	0.463000													51	75					0	0	0.014410	0	0
PCSK5	5125	broad.mit.edu	37	9	78804056	78804056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:78804056G>A	ENST00000545128.1	+	19	2965	c.2427G>A	c.(2425-2427)atG>atA	p.M809I	PCSK5_ENST00000376752.4_Missense_Mutation_p.M809I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	809	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTACTTCATGGAGGATGGGA	0.468000													14	62					0	0	0.001855	0	0
LMOD1	25802	broad.mit.edu	37	1	201869499	201869499	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:201869499C>T	ENST00000367288.4	-	2	888	c.642G>A	c.(640-642)gtG>gtA	p.V214V		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	214	8 X approximate tandem repeats.				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						ctttcttggccacctccttca	0.502000													6	14					0	0	0.001168	0	0
FAM196A	642938	broad.mit.edu	37	10	128973813	128973813	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:128973813G>T	ENST00000522781.1	-	4	1402	c.847C>A	c.(847-849)Ccg>Acg	p.P283T	FAM196A_ENST00000424811.2_Missense_Mutation_p.P283T|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	283										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCATCTGCCGGGCAGAGTGAC	0.657000													28	30					7.38237e-10	7.51615e-10	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179611800	179611800	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179611800G>A	ENST00000360870.5	-	46	15549	c.15327C>T	c.(15325-15327)ccC>ccT	p.P5109P	TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1217	Ig-like 31.						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)			CCTCCCCTGGGGGTGTGGAAT	0.493000													20	54					0	0	0.012319	0	0
RGS22	26166	broad.mit.edu	37	8	100975140	100975140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:100975140C>T	ENST00000360863.6	-	25	3876	c.3682G>A	c.(3682-3684)Gaa>Aaa	p.E1228K	RGS22_ENST00000523437.1_Missense_Mutation_p.E1216K|RGS22_ENST00000523287.1_Missense_Mutation_p.E1047K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1228					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTAGTTCTTCTTGGATCTTA	0.313000													11	21					0	0	0.008291	0	0
CRYBB2	1415	broad.mit.edu	37	22	25620957	25620957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25620957G>A	ENST00000398215.2	+	3	298	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	43	Beta/gamma crystallin 'Greek key' 1.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAACCTGAAGGAAACTGGCGT	0.552000													37	114					0	0	0.003755	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212785	100212785	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100212785C>T	ENST00000393950.2	+	5	969	c.687C>T	c.(685-687)acC>acT	p.T229T	MOSPD3_ENST00000379527.2_Silent_p.T229T|MOSPD3_ENST00000424091.2_Silent_p.T219T|MOSPD3_ENST00000223054.4_Silent_p.T229T	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	229						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCTCCTCACCATGGTGTTCC	0.622000													31	97					0	0	0.012213	0	0
TMIGD2	126259	broad.mit.edu	37	19	4294678	4294678	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4294678C>T	ENST00000301272.2	-	4	494		c.e4-1		TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Splice_Site|TMIGD2_ENST00000595645.1_Splice_Site	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2							integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGGAATCCTGGGTAGGGG	0.642000													141	290					0	0	0.014410	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801645	133801645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:133801645C>T	ENST00000321016.8	-	9	1386	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E386K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	386	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCTGTGGCCTCCTCAATTCGA	0.587000													12	22					0	0	0.010729	0	0
SCAND3	114821	broad.mit.edu	37	6	28540518	28540518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28540518G>A	ENST00000452236.2	-	4	3765	c.3148C>T	c.(3148-3150)Cat>Tat	p.H1050Y		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1050					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						agttgcttatgatcagcttcc	0.303000													18	70					0	0	0.012319	0	0
CEP128	145508	broad.mit.edu	37	14	81366325	81366325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:81366325G>A	ENST00000555265.1	-	7	904	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	CEP128_ENST00000216517.6_Missense_Mutation_p.R177C|CEP128_ENST00000327841.2_Missense_Mutation_p.R117C|CEP128_ENST00000281129.3_Missense_Mutation_p.R177C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	177						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCCAAGGCGAATTTGTTCA	0.408000													50	162					0	0	0.014410	0	0
KIF2B	84643	broad.mit.edu	37	17	51902109	51902109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:51902109C>T	ENST00000268919.4	+	1	1871	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	572					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCGGAAATTCAGAAATGTCC	0.388000													55	125					0	0	0.014410	0	0
NDN	4692	broad.mit.edu	37	15	23932165	23932165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:23932165G>A	ENST00000331837.4	-	1	285	c.200C>T	c.(199-201)cCg>cTg	p.P67L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	67					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CAGGGCCTTCGGGTCGCCCTC	0.806000									Prader-Willi syndrome				3	6					0	0	0.009096	0	0
PTGS1	5742	broad.mit.edu	37	9	125152509	125152509	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125152509C>T	ENST00000362012.2	+	10	1334	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PTGS1_ENST00000373698.5_Silent_p.I334I|PTGS1_ENST00000540753.1_Silent_p.I381I|PTGS1_ENST00000223423.4_Silent_p.I406I	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	443			I -> V (in dbSNP:rs5792).		cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ACCACCACATCCTGCATGTGG	0.592000													25	43					0	0	0.003954	0	0
C7	730	broad.mit.edu	37	5	40964859	40964859	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40964859T>A	ENST00000313164.9	+	14	2125	c.1766T>A	c.(1765-1767)tTt>tAt	p.F589Y		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	589	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GGTACAATGTTTCCTGTGGGG	0.368000													17	50					0	0	0.004990	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883843	228883843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:228883843C>T	ENST00000392056.3	-	7	1773	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R576K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	576						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACCTCTTCTCTTTCACCCAG	0.552000													46	125					0	0	0.014410	0	0
GRM6	2916	broad.mit.edu	37	5	178413174	178413174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:178413174G>A	ENST00000231188.5	-	8	2259	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P694L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	694					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)		CTGTGAGGTGGGGCTGATGAA	0.627000													14	21					0	0	0.004990	0	0
COL5A2	1290	broad.mit.edu	37	2	189932971	189932971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:189932971G>A	ENST00000374866.3	-	20	1557	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	428					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTTGGCACCAGGAGTACCATC	0.408000													35	71					0	0	0.006230	0	0
OR2M4	26245	broad.mit.edu	37	1	248402872	248402872	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248402872C>T	ENST00000306687.1	+	1	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I214I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTCAGTTATCATACTTTCCT	0.473000													33	63					0	0	0.010818	0	0
GRAP2	9402	broad.mit.edu	37	22	40362074	40362074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:40362074C>T	ENST00000344138.4	+	5	634	c.371C>T	c.(370-372)tCc>tTc	p.S124F	GRAP2_ENST00000543252.1_Missense_Mutation_p.S84F|GRAP2_ENST00000540310.1_Missense_Mutation_p.S58F|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000544756.1_Missense_Mutation_p.S52F|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.S124F	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	124	SH2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AAGTTTCCATCCCTAAATAAG	0.453000													71	117					0	0	0.014410	0	0
OR1I1	126370	broad.mit.edu	37	19	15198369	15198369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15198369C>T	ENST00000209540.2	+	1	579	c.493C>T	c.(493-495)Caa>Taa	p.Q165*		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCTCATGGCTCAACTGACCTT	0.562000													39	129					0	0	0.009718	0	0
DSP	1832	broad.mit.edu	37	6	7581158	7581158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:7581158C>T	ENST00000379802.3	+	23	5076	c.4735C>T	c.(4735-4737)Cgg>Tgg	p.R1579W	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1579	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAGCTGAATCGGCTGAAGAG	0.542000													26	71					0	0	0.003954	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037254	47037254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:47037254G>A	ENST00000450053.3	+	14	2128	c.1949G>A	c.(1948-1950)gGg>gAg	p.G650E	NBEAL2_ENST00000292309.5_Missense_Mutation_p.G650E|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	650							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGGCGGCCGGGACCCTGGTG	0.592000													40	50					0	0	0.006230	0	0
ELTD1	64123	broad.mit.edu	37	1	79403621	79403621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:79403621C>T	ENST00000370742.3	-	6	694	c.631G>A	c.(631-633)Gac>Aac	p.D211N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	211					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)		GATAACTTGTCCCAAACTACA	0.343000													24	121					0	0	0.014323	0	0
IGLV2-8	28817	broad.mit.edu	37	22	23165656	23165656	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:23165656C>T	ENST00000390317.2	+	0	389																											AGTAAGCGGCCCTCAGGGGTC	0.557000													281	461					0	0	0.014410	0	0
CKAP2L	150468	broad.mit.edu	37	2	113509901	113509901	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:113509901G>A	ENST00000541405.1	-	5	1573	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	CKAP2L_ENST00000302450.6_Silent_p.L515L			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	515						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGACAGTTCGAGTTGTGCTT	0.373000													61	180					0	0	0.014410	0	0
ABCA13	154664	broad.mit.edu	37	7	48318429	48318429	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:48318429C>T	ENST00000435803.1	+	18	7662	c.7638C>T	c.(7636-7638)tcC>tcT	p.S2546S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2546					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTTATCTCCAATACCAAGG	0.353000													29	168					0	0	0.008361	0	0
ASAP2	8853	broad.mit.edu	37	2	9463340	9463340	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:9463340G>T	ENST00000281419.3	+	6	901	c.561G>T	c.(559-561)atG>atT	p.M187I	ASAP2_ENST00000315273.4_Missense_Mutation_p.M187I	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	187					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCGAAGAGATGGAAAAGGAGA	0.537000													78	190					6.11987e-43	6.28116e-43	0.014410	1	0
OR51F2	119694	broad.mit.edu	37	11	4842710	4842710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4842710C>T	ENST00000322110.5	+	1	160	c.95C>T	c.(94-96)cCa>cTa	p.P32L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P32Q(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCATTCCAGGCCTGAAA	0.473000													47	235					0	0	0.013114	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220954	50220954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50220954G>A	ENST00000002829.3	+	12	1674	c.1190G>A	c.(1189-1191)tGg>tAg	p.W397*	SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.W366*|SEMA3F_ENST00000413852.1_Nonsense_Mutation_p.W298*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	397	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AACTACCAGTGGATGCCCTTC	0.592000													29	117					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179647089	179647089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179647089C>T	ENST00000589042.1	-	20	3454	c.3230G>A	c.(3229-3231)gGa>gAa	p.G1077E	TTN_ENST00000591111.1_Missense_Mutation_p.G1077E|TTN_ENST00000460472.2_Missense_Mutation_p.G1031E|TTN_ENST00000360870.5_Missense_Mutation_p.G1077E|TTN_ENST00000359218.5_Missense_Mutation_p.G1031E|TTN_ENST00000342992.6_Missense_Mutation_p.G1077E|TTN_ENST00000342175.6_Missense_Mutation_p.G1031E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1077							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)			GGCAGGTTCTCCAGGCCCTGC	0.507000													25	61					0	0	0.005443	0	0
KLF12	11278	broad.mit.edu	37	13	74569125	74569125	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:74569125A>G	ENST00000377669.2	-	1	60		c.e1+1		KLF12_ENST00000472022.1_Splice_Site|KLF12_ENST00000377666.4_Splice_Site	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12						negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGACTAACCAACCTTTATTGT	0.323000													11	31					0	0	0.008291	0	0
HBB	3043	broad.mit.edu	37	11	5248179	5248179	+	Missense_Mutation	SNP	C	C	T	rs33972975		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5248179C>T	ENST00000335295.3	-	1	248	c.73G>A	c.(73-75)Ggt>Agt	p.G25S		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	25			G -> D (in Moscva; O(2) affinity down; unstable).|G -> R (in Riverdale-Bronx; O(2) affinity up; unstable).|G -> V (in Savannah; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GCCTCACCACCAACTTCATCC	0.512000									Sickle Cell Trait				18	43					0	0	0.012319	0	0
CTNND2	1501	broad.mit.edu	37	5	10992789	10992789	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:10992789C>T	ENST00000304623.8	-	19	3274	c.3084_splice	c.e19-1	p.D1029_splice	CTNND2_ENST00000458100.2_Splice_Site_p.D596_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Splice_Site_p.D692_splice|CTNND2_ENST00000359640.2_Splice_Site_p.D971_splice|CTNND2_ENST00000511377.1_Splice_Site_p.D938_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1029					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACCATCCATCCTGCAAAACA	0.498000													49	192					0	0	0.014410	0	0
ADAM19	8728	broad.mit.edu	37	5	156915375	156915375	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:156915375C>T	ENST00000257527.4	-	21	2526	c.2448G>A	c.(2446-2448)agG>agA	p.R816R	ADAM19_ENST00000517905.1_Silent_p.R816R|ADAM19_ENST00000394020.1_Silent_p.R818R|ADAM19_ENST00000430702.2_Silent_p.R549R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	816					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGGGAGTTCCTAGCAGCCC	0.652000													59	80					0	0	0.014410	0	0
IARS	3376	broad.mit.edu	37	9	95021262	95021262	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:95021262G>A	ENST00000375643.3	-	19	2156	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	IARS_ENST00000447699.2_Silent_p.S520S|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Silent_p.S630S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	630					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCACCACAGGGGAGTTAATCA	0.423000													17	39					0	0	0.006122	0	0
FCAMR	83953	broad.mit.edu	37	1	207131965	207131965	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207131965G>T	ENST00000324852.4	-	8	2104	c.1630C>A	c.(1630-1632)Ccc>Acc	p.P544T	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000450945.2_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	499						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTGCTTGGGGGTTCACTTCC	0.542000													26	125					3.73148e-12	3.80588e-12	0.007291	1	0
STAM2	10254	broad.mit.edu	37	2	153003815	153003815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:153003815G>A	ENST00000263904.4	-	5	657	c.308C>T	c.(307-309)cCt>cTt	p.P103L	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	103	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACATACTTTAGGATGTGCCTT	0.308000													26	74					0	0	0.007291	0	0
ZNF81	347344	broad.mit.edu	37	X	47775871	47775871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:47775871C>T	ENST00000376954.1	+	6	2194	c.1826C>T	c.(1825-1827)cCa>cTa	p.P609L	ZNF81_ENST00000338637.7_Missense_Mutation_p.P609L			P51508	ZNF81_HUMAN	zinc finger protein 81	609						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGGGAGAAACCATATATATGT	0.388000													13	24					0	0	0.013537	0	0
ABCA12	26154	broad.mit.edu	37	2	215875108	215875108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:215875108C>T	ENST00000272895.7	-	18	2638	c.2419G>A	c.(2419-2421)Gga>Aga	p.G807R	ABCA12_ENST00000389661.4_Missense_Mutation_p.G489R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	807					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)		AAAATTCTTCCCAACAACATA	0.368000													14	65					0	0	0.001855	0	0
WDR72	256764	broad.mit.edu	37	15	53907716	53907716	+	Missense_Mutation	SNP	C	C	T	rs146417353		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:53907716C>T	ENST00000396328.1	-	15	2926	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	WDR72_ENST00000360509.5_Missense_Mutation_p.R896Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R893Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R906Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	896										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATCTGACTCTCGCAAAGAATC	0.348000													7	18					0	0	0.003080	0	0
VRTN	55237	broad.mit.edu	37	14	74825220	74825220	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:74825220G>A	ENST00000256362.4	+	2	1975	c.1734G>A	c.(1732-1734)aaG>aaA	p.K578K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	578					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCAGGAGAAGGAGGCTGGCA	0.637000													30	102					0	0	0.010818	0	0
LTBP1	4052	broad.mit.edu	37	2	33335750	33335750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:33335750G>A	ENST00000404816.2	+	4	1318	c.965G>A	c.(964-966)gGa>gAa	p.G322E	LTBP1_ENST00000354476.3_Missense_Mutation_p.G322E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	322					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGATTTCAGGAGAGCAGTCC	0.488000													53	124					0	0	0.014410	0	0
HIPK2	28996	broad.mit.edu	37	7	139257822	139257822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:139257822G>A	ENST00000406875.3	-	15	3542	c.3448C>T	c.(3448-3450)Ccc>Tcc	p.P1150S	HIPK2_ENST00000428878.2_Missense_Mutation_p.P1123S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1150	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)					AGGACCCGGGGGCCCATGCTC	0.677000													13	36					0	0	0.013537	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786570	128786570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:128786570G>A	ENST00000529694.1	+	3	1580	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	KCNJ5_ENST00000533599.1_Missense_Mutation_p.E402K|KCNJ5_ENST00000338350.4_Missense_Mutation_p.E402K	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	402					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGAGCAGAATGAAGAAGATGA	0.637000													19	27					0	0	0.006122	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166770	96166770	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:96166770C>T	ENST00000315367.3	+	2	739	c.498C>T	c.(496-498)ttC>ttT	p.F166F	PLEKHF2_ENST00000519516.1_Silent_p.F166F	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	166						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					AAGCAAAATTCACACCTGTTA	0.478000													37	165					0	0	0.004289	0	0
IGFN1	91156	broad.mit.edu	37	1	201185804	201185804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:201185804C>T	ENST00000335211.4	+	16	9648	c.9518C>T	c.(9517-9519)aCc>aTc	p.T3173I	IGFN1_ENST00000295591.8_Missense_Mutation_p.T333I	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGAAGTATACCTTCCGAGTG	0.642000													73	95					0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164716441	164716441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164716441C>T	ENST00000264382.3	-	38	4489	c.4427G>A	c.(4426-4428)gGa>gAa	p.G1476E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1476	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCCTCTTTTTCCAGTTGTCTT	0.388000										HNSCC(35;0.089)			19	17					0	0	0.008871	0	0
DMP1	1758	broad.mit.edu	37	4	88583217	88583217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:88583217G>A	ENST00000339673.6	+	6	386	c.287G>A	c.(286-288)gGa>gAa	p.G96E	DMP1_ENST00000282479.7_Missense_Mutation_p.G80E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	96					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGGAGCACAGGAAAAGGAGGA	0.502000													11	72					0	0	0.008291	0	0
PPBP	5473	broad.mit.edu	37	4	74853706	74853706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:74853706C>T	ENST00000296028.3	-	1	208	c.115G>A	c.(115-117)Gga>Aga	p.G39R		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	39					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTAGTTTGTCCTTTGGTGGAG	0.522000													37	60					0	0	0.005524	0	0
MYO15A	51168	broad.mit.edu	37	17	18077162	18077162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:18077162C>T	ENST00000205890.5	+	65	10756	c.10418C>T	c.(10417-10419)tCc>tTc	p.S3473F	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.S737F|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3473	FERM.|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)					ACGGCCAACTCCAGCTACCCC	0.647000													48	54					0	0	0.014410	0	0
SLC27A3	11000	broad.mit.edu	37	1	153750725	153750725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153750725G>A	ENST00000271857.2	+	5	2394	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.G464E			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	464					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGCGCTTCGGGCCCCTGCAG	0.637000													56	169					0	0	0.014410	0	0
NDST3	9348	broad.mit.edu	37	4	118975183	118975183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:118975183G>A	ENST00000296499.5	+	2	521	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	NDST3_ENST00000433996.2_Missense_Mutation_p.E40K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	40	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTACAAACAGGAAAATGAACT	0.423000													11	54					0	0	0.008291	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834936	27834936	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:27834936C>T	ENST00000331442.3	-	1	423	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	124					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCTGCCTTCTTGGCTTTGG	0.597000													119	325					0	0	0.014410	0	0
B4GALT4	8702	broad.mit.edu	37	3	118935164	118935164	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:118935164G>A	ENST00000467604.1	-	7	1216	c.825C>T	c.(823-825)tcC>tcT	p.S275S	B4GALT4_ENST00000483209.1_Silent_p.S275S|B4GALT4_ENST00000359213.3_Silent_p.S275S|B4GALT4_ENST00000393765.2_Silent_p.S275S|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	275					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GCAGGGGCCGGGAAATTTTCA	0.408000													21	112					0	0	0.012319	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920720	51920720	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51920720C>T	ENST00000353836.5	-	2	259		c.e2-1		SIGLEC10_ENST00000432469.2_Splice_Site|SIGLEC10_ENST00000356298.5_Splice_Site|SIGLEC10_ENST00000436984.2_Splice_Site|SIGLEC10_ENST00000442846.3_Splice_Site|SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000441969.3_Splice_Site|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000525998.1_Splice_Site	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCCTGGGACCCTGTGGGGAGA	0.637000													39	67					0	0	0.008740	0	0
MSR1	4481	broad.mit.edu	37	8	15978113	15978113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:15978113G>A	ENST00000262101.5	-	9	1157	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	MSR1_ENST00000445506.2_Missense_Mutation_p.P364S|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	346					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCGTAAATGGAGCTGTAAAG	0.413000													20	31					0	0	0.008871	0	0
FAT3	120114	broad.mit.edu	37	11	92532817	92532817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:92532817C>T	ENST00000298047.6	+	9	6655	c.6638C>T	c.(6637-6639)cCa>cTa	p.P2213L	FAT3_ENST00000525166.1_Missense_Mutation_p.P2063L|FAT3_ENST00000409404.2_Missense_Mutation_p.P2213L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2213	Cadherin 20.				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)				GCCACCAGTCCAGAAGGCCAA	0.418000										TCGA Ovarian(4;0.039)			30	39					0	0	0.008361	0	0
RYR3	6263	broad.mit.edu	37	15	33928595	33928595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:33928595G>A	ENST00000389232.4	+	27	3470	c.3400G>A	c.(3400-3402)Gga>Aga	p.G1134R	RYR3_ENST00000415757.3_Missense_Mutation_p.G1134R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1134	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGGCATCAAGGAAGTGGGTA	0.493000													61	179					0	0	0.014410	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802664	31802664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:31802664C>T	ENST00000334068.2	+	1	93	c.71C>T	c.(70-72)tCc>tTc	p.S24F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	24						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TACCCAGGCTCCTACCCCAGC	0.582000													50	142					0	0	0.014410	0	0
CD163L1	283316	broad.mit.edu	37	12	7531787	7531787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7531787C>T	ENST00000313599.3	-	9	2215	c.2158G>A	c.(2158-2160)Gga>Aga	p.G720R	CD163L1_ENST00000396630.1_Missense_Mutation_p.G720R|CD163L1_ENST00000416109.2_Missense_Mutation_p.G730R|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	720	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATGTTCATTCCCCAGCCATTA	0.493000													28	93					0	0	0.009535	0	0
SH3RF3	344558	broad.mit.edu	37	2	110049062	110049062	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:110049062G>A	ENST00000309415.6	+	6	1509	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	503	SH3 3.						zinc ion binding	p.K503N(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCTGGTTCAAGGGGGCGTCTC	0.617000													15	27					0	0	0.002450	0	0
ZIC2	7546	broad.mit.edu	37	13	100634891	100634891	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:100634891G>A	ENST00000376335.3	+	1	866	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	191	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCGGGCGCTCGGAGCAATACC	0.667000													27	17					0	0	0.004656	0	0
CTR9	9646	broad.mit.edu	37	11	10776652	10776652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:10776652C>T	ENST00000361367.2	+	3	718	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	98					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACAACAGGCTCGGAAAGAAAA	0.373000													29	129					0	0	0.009535	0	0
OR56A4	120793	broad.mit.edu	37	11	6024232	6024232	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6024232C>T	ENST00000330728.4	-	1	192	c.147G>A	c.(145-147)agG>agA	p.R49R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTAAAGTTTCCTGATCAATC	0.463000													9	58					0	0	0.004482	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156545	55156545	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:55156545G>A	ENST00000257290.5	+	22	3277	c.2946G>A	c.(2944-2946)gtG>gtA	p.V982V	FIP1L1_ENST00000507166.1_Silent_p.V742V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	982					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.V982V(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCATGCGTGTGGACTCAGACA	0.453000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			28	73					0	0	0.005443	0	0
ENPP6	133121	broad.mit.edu	37	4	185038965	185038965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:185038965C>T	ENST00000296741.2	-	4	763	c.622G>A	c.(622-624)Gat>Aat	p.D208N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	208					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTGAGGGCATCTTTCCTCTGC	0.587000													33	146					0	0	0.004289	0	0
OR13C3	138803	broad.mit.edu	37	9	107298405	107298405	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107298405C>T	ENST00000374781.2	-	1	732	c.690G>A	c.(688-690)gtG>gtA	p.V230V		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TATTTGATATCACCATGGTGA	0.388000													33	63					0	0	0.010818	0	0
AJAP1	55966	broad.mit.edu	37	1	4832398	4832398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:4832398G>A	ENST00000378191.4	+	4	1357	c.976G>A	c.(976-978)Gag>Aag	p.E326K	AJAP1_ENST00000378190.3_Missense_Mutation_p.E326K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	326	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAACCAGCAGGAGGAGAGCTG	0.617000													34	62					0	0	0.013726	0	0
OR4K1	79544	broad.mit.edu	37	14	20404190	20404190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20404190G>A	ENST00000285600.4	+	1	424	c.365G>A	c.(364-366)aGa>aAa	p.R122K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCATATGACAGATTTATAGCC	0.443000													23	111					0	0	0.002780	0	0
C14orf28	122525	broad.mit.edu	37	14	45369670	45369670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:45369670C>T	ENST00000325192.3	+	2	307	c.32C>T	c.(31-33)tCa>tTa	p.S11L	C14orf28_ENST00000557112.1_Missense_Mutation_p.S11L|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	11										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ATCAAAGCATCAATTAAAAAT	0.328000													25	98					0	0	0.003954	0	0
RNF20	56254	broad.mit.edu	37	9	104302837	104302837	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:104302837C>T	ENST00000389120.3	+	4	453	c.363C>T	c.(361-363)ctC>ctT	p.L121L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	121					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAGACCTACTCACAGAACGAA	0.453000													21	49					0	0	0.012319	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112004083	112004083	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:112004083G>A	ENST00000374557.4	-	16	1933	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	EPB41L4B_ENST00000374566.3_Intron	NM_018424.2	NP_060894.2	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	0						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						CATCCTGAAAGGATGGCCTGT	0.468000													48	123					0	0	0.014410	0	0
CFB	629	broad.mit.edu	37	6	31919130	31919130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31919130G>A	ENST00000556679.1	+	28	3530	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K	CFB_ENST00000477310.1_Missense_Mutation_p.E1008K|CFB_ENST00000456570.1_Missense_Mutation_p.E1159K|CFB_ENST00000425368.2_Missense_Mutation_p.E657K			P00751	CFAB_HUMAN	complement factor B	657					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGGCAGCTGTGAGAGAGATGC	0.532000													111	275					0	0	0.014410	0	0
CXCR1	3577	broad.mit.edu	37	2	219029047	219029047	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:219029047G>A	ENST00000295683.2	-	2	1008	c.888C>T	c.(886-888)ctC>ctT	p.L296L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	296					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGCAGCTATGGAGAAATCCCA	0.562000													50	109					0	0	0.014410	0	0
FAM65C	140876	broad.mit.edu	37	20	49225247	49225247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:49225247C>T	ENST00000327979.2	-	10	1112	c.701G>A	c.(700-702)tGg>tAg	p.W234*	FAM65C_ENST00000535356.1_Nonsense_Mutation_p.W238*|FAM65C_ENST00000045083.2_Nonsense_Mutation_p.W234*			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	234										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGAGCTTCCAACGCTGGCG	0.647000													65	159					0	0	0.014410	0	0
ITFG1	81533	broad.mit.edu	37	16	47462722	47462722	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:47462722A>C	ENST00000320640.6	-	6	876	c.648T>G	c.(646-648)ttT>ttG	p.F216L	ITFG1_ENST00000544001.2_Missense_Mutation_p.F103L	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	216						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CACCTGCTGTAAAATCTTCAG	0.318000													11	70					0	0	0.013537	0	0
FAM181A	90050	broad.mit.edu	37	14	94394861	94394861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94394861G>A	ENST00000267594.5	+	3	723	c.416G>A	c.(415-417)aGg>aAg	p.R139K	FAM181A_ENST00000557719.1_Missense_Mutation_p.R77K|FAM181A_ENST00000557000.2_Missense_Mutation_p.R77K|FAM181A_ENST00000556222.1_Missense_Mutation_p.R77K	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	139										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GACCGGCCCAGGAGGCTGCTC	0.647000													27	60					0	0	0.006320	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720281	140720281	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140720281C>T	ENST00000394576.2	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCGCTCCGCAGAGCCCG	0.662000													99	149					0	0	0.014410	0	0
NDN	4692	broad.mit.edu	37	15	23932166	23932166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:23932166G>A	ENST00000331837.4	-	1	284	c.199C>T	c.(199-201)Ccg>Tcg	p.P67S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	67					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGGCCTTCGGGTCGCCCTCG	0.801000									Prader-Willi syndrome				3	6					0	0	0.009096	0	0
HEMK1	51409	broad.mit.edu	37	3	50615261	50615261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50615261C>T	ENST00000232854.4	+	7	1171	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	HEMK1_ENST00000455834.1_Missense_Mutation_p.R207W|HEMK1_ENST00000434410.1_Missense_Mutation_p.R207W	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	207					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GTGTAGGCTTCGGTTGCAGGA	0.547000													124	144					0	0	0.014410	0	0
GRIK2	2898	broad.mit.edu	37	6	102503254	102503254	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:102503254G>A	ENST00000369138.1	+	15	2851	c.2361G>A	c.(2359-2361)gaG>gaA	p.E787E	GRIK2_ENST00000421544.1_Silent_p.E787E|GRIK2_ENST00000369137.3_Silent_p.E711E|GRIK2_ENST00000413795.1_Silent_p.E787E|GRIK2_ENST00000318991.6_Silent_p.E787E|GRIK2_ENST00000369134.4_Silent_p.E738E	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	787					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGCTGCAAGAGGAAGGCAAAC	0.438000													15	31					0	0	0.003163	0	0
DAB1	1600	broad.mit.edu	37	1	57611094	57611094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57611094G>A	ENST00000371236.2	-	3	339	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	DAB1_ENST00000371230.1_Missense_Mutation_p.R26C|DAB1_ENST00000420954.2_Missense_Mutation_p.R26C|DAB1_ENST00000371231.1_Missense_Mutation_p.R26C|DAB1_ENST00000439789.2_Missense_Mutation_p.R26C|DAB1_ENST00000414851.2_Missense_Mutation_p.R26C|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.R26C			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	26					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTCACTGCGATCCTGACCT	0.458000													26	69					0	0	0.004656	0	0
RAX	30062	broad.mit.edu	37	18	56936640	56936640	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:56936640T>G	ENST00000334889.3	-	3	823	c.637A>C	c.(637-639)Agc>Cgc	p.S213R	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	213					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GGGGAGCGGCTGAAGGAGAGG	0.736000													3	9					0	0	0.009096	0	0
IL4R	3566	broad.mit.edu	37	16	27374928	27374928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:27374928C>T	ENST00000395762.2	+	11	2514	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	IL4R_ENST00000170630.2_Missense_Mutation_p.S752F|IL4R_ENST00000543915.2_Missense_Mutation_p.S752F|IL4R_ENST00000380922.3_Missense_Mutation_p.S737F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	752			S -> A (in dbSNP:rs1805016).		immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGAGACAGGTCCTCGCCCCCT	0.667000													16	61					0	0	0.006122	0	0
PTPRU	10076	broad.mit.edu	37	1	29647278	29647278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:29647278G>A	ENST00000373779.3	+	26	3898	c.3769G>A	c.(3769-3771)Gat>Aat	p.D1257N	PTPRU_ENST00000460170.2_Missense_Mutation_p.D1263N|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1254N|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1267N|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1263N|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1263N	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1267	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCTGGTCTACGATTACGGGTG	0.642000													40	88					0	0	0.007835	0	0
ZNF8	7554	broad.mit.edu	37	19	58806335	58806335	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:58806335C>T	ENST00000196548.5	+	4	1292	c.1161C>T	c.(1159-1161)caC>caT	p.H387H	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TTTTCCTGCACCTGAGAACTC	0.612000													49	59					0	0	0.014410	0	0
CLDN16	10686	broad.mit.edu	37	3	190106125	190106125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:190106125G>A	ENST00000264734.2	+	1	465	c.217G>A	c.(217-219)Gat>Aat	p.D73N	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.D73N	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	73					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	p.D73N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CACAATGAGGGATCTTCTTCA	0.517000													66	94					0	0	0.014410	0	0
ADCY8	114	broad.mit.edu	37	8	131848648	131848648	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:131848648G>A	ENST00000286355.5	-	12	4642	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	ADCY8_ENST00000377928.3_Silent_p.F719F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	850					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCAGCCGGAGGAAAACTGCAC	0.547000										HNSCC(32;0.087)			12	49					0	0	0.013537	0	0
OR8B2	26595	broad.mit.edu	37	11	124252919	124252919	+	Silent	SNP	G	G	A	rs2320234	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124252919G>A	ENST00000375013.2	-	1	339	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACGAAAAAGAGAA	0.398000													19	43					0	0	0.007413	0	0
ANAPC7	51434	broad.mit.edu	37	12	110815261	110815261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:110815261C>T	ENST00000455511.3	-	9	1396	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.D466N	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	466					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGGGCTTTATCTAATAATGTT	0.413000													53	168					0	0	0.014410	0	0
NLRP5	126206	broad.mit.edu	37	19	56515209	56515209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56515209G>A	ENST00000390649.3	+	2	190	c.190G>A	c.(190-192)Ggg>Agg	p.G64R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	64	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCCAGCTACGGGCTGCAATG	0.423000													50	91					0	0	0.014410	0	0
EPHA7	2045	broad.mit.edu	37	6	93964437	93964437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:93964437C>T	ENST00000369303.4	-	14	2644	c.2460G>A	c.(2458-2460)tgG>tgA	p.W820*		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	820	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCCATAGCTCCATACATCAC	0.388000													15	17					0	0	0.004007	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740450	139740450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:139740450C>T	ENST00000230993.6	+	2	391	c.356C>T	c.(355-357)cCc>cTc	p.P119L	SLC4A9_ENST00000506545.1_Missense_Mutation_p.P95L|SLC4A9_ENST00000507527.1_Missense_Mutation_p.P119L|SLC4A9_ENST00000506757.2_Missense_Mutation_p.P95L|SLC4A9_ENST00000432095.2_Missense_Mutation_p.P95L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	119						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTGCCCCCCACGTGCCC	0.622000													16	28					0	0	0.004007	0	0
CCDC158	339965	broad.mit.edu	37	4	77300459	77300459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:77300459C>T	ENST00000388914.3	-	8	1165	c.1013G>A	c.(1012-1014)aGg>aAg	p.R338K	CCDC158_ENST00000434846.2_Missense_Mutation_p.R338K	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	338										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						TTCATACATCCTTTTGGCTTC	0.353000													13	72					0	0	0.001855	0	0
AKAP8L	26993	broad.mit.edu	37	19	15507970	15507970	+	Silent	SNP	C	C	T	rs45541735		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15507970C>T	ENST00000397410.4	-	12	1591	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	AKAP8L_ENST00000595465.1_Silent_p.R448R	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	509						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTGCGGTTCCGGTTGTGAT	0.572000													221	269					0	0	0.014410	0	0
DBX2	440097	broad.mit.edu	37	12	45417530	45417530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:45417530C>T	ENST00000332700.6	-	3	818	c.647G>A	c.(646-648)cGa>cAa	p.R216Q		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AAGTTTCTTTCGGTCTGTTTT	0.413000													78	306					0	0	0.014410	0	0
F13B	2165	broad.mit.edu	37	1	197026446	197026446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:197026446C>T	ENST00000367412.1	-	6	998	c.955G>A	c.(955-957)Gga>Aga	p.G319R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	319	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTCCATTTTCCATCTTCACAA	0.358000													21	69					0	0	0.002780	0	0
BCL11B	64919	broad.mit.edu	37	14	99641457	99641457	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:99641457C>T	ENST00000345514.2	-	3	1769	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	BCL11B_ENST00000357195.3_Silent_p.G572G|BCL11B_ENST00000443726.2_Silent_p.G378G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	572						nucleus	zinc ion binding	p.G643G(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ccccgggcACCCCACCACCGC	0.711000			T	TLX3	T-ALL								10	37					0	0	0.008291	0	0
SKI	6497	broad.mit.edu	37	1	2237546	2237546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2237546C>T	ENST00000378536.4	+	6	1927	c.1855C>T	c.(1855-1857)Ctc>Ttc	p.L619F		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	619					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GATCGAGCGTCTCCGCGCCGA	0.662000													5	11					0	0	0.001984	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993861	96993861	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96993861A>G	ENST00000361124.4	+	1	1927	c.1516A>G	c.(1516-1518)Aat>Gat	p.N506D	ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.N498D|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.N490D|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.N490D	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	498						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATTGGTAACAATTTTCTGCC	0.532000													77	113					0	0	0.014410	0	0
DGKG	1608	broad.mit.edu	37	3	185975698	185975698	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:185975698G>A	ENST00000265022.3	-	17	1994	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	DGKG_ENST00000382164.4_Silent_p.F446F|DGKG_ENST00000544847.1_Silent_p.F426F|DGKG_ENST00000344484.4_Silent_p.F460F	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	485	DAGKc.				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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCAAAACACGGAAGTCTGGAG	0.463000													86	136					0	0	0.014410	0	0
KANK4	163782	broad.mit.edu	37	1	62703961	62703961	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62703961G>A	ENST00000371153.4	-	10	3354	c.2976C>T	c.(2974-2976)tcC>tcT	p.S992S	KANK4_ENST00000354381.3_Silent_p.S364S|KANK4_ENST00000317477.4_Silent_p.S130S|KANK4_ENST00000371150.1_Silent_p.S348S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	992										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACAGCCCCAGGGACCTGCCCT	0.607000													20	42					0	0	0.010504	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853514	12853514	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12853514G>A	ENST00000332296.7	+	2	241	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	46										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCAGCAGGAGACACTTCC	0.572000													82	49					0	0	0.014410	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943800	9943800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:9943800G>A	ENST00000396573.2	-	6	1450	c.1141C>T	c.(1141-1143)Cat>Tat	p.H381Y	GRIN2A_ENST00000330684.3_Missense_Mutation_p.H381Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.H381Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.H224Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.H381Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.H381Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	381					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCAGCGTATGGTTCTCCCAC	0.577000													11	41					0	0	0.013537	0	0
RBBP5	5929	broad.mit.edu	37	1	205068906	205068906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205068906G>A	ENST00000264515.6	-	9	1082	c.941C>T	c.(940-942)tCc>tTc	p.S314F	RBBP5_ENST00000367164.1_Missense_Mutation_p.S314F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	314					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CACTCCACTGGAAATGGATGC	0.348000													61	157					0	0	0.014410	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587468	42587468	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:42587468C>T	ENST00000289957.2	+	5	1146	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	340					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GAGGCTCTTTCTGCAGAAACT	0.468000													38	230					0	0	0.007835	0	0
CLP1	10978	broad.mit.edu	37	11	57427179	57427179	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:57427179C>T	ENST00000533682.1	+	2	956	c.231C>T	c.(229-231)ggC>ggT	p.G77G	CLP1_ENST00000302731.4_Silent_p.G77G|CLP1_ENST00000525602.1_Silent_p.G77G|CLP1_ENST00000529430.1_Silent_p.G88G			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	77					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AACTGAGCGGCCGCACTGAGG	0.517000													34	66					0	0	0.004878	0	0
OTOP2	92736	broad.mit.edu	37	17	72926630	72926630	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72926630C>T	ENST00000331427.4	+	6	992	c.900C>T	c.(898-900)ttC>ttT	p.F300F	OTOP2_ENST00000580223.1_Silent_p.F300F	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	300						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTGCTCTTCGTGGTGGGGC	0.617000													53	115					0	0	0.014410	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008385	142008385	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142008385G>A	ENST00000390387.3	+	0	21																											CCTGCCCTGGGCCTTGCCTGG	0.612000													5	10					0	0	0.001984	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42819858	42819858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:42819858C>T	ENST00000314073.5	+	7	2044	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S623F					GLTSCR1-like																		AATCAGACTTCCCCCATTTCT	0.438000													14	60					0	0	0.003163	0	0
PER2	8864	broad.mit.edu	37	2	239162251	239162251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:239162251G>A	ENST00000254657.3	-	19	2692	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	805					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GATGAGTCTCGAGGTTTGACC	0.557000													5	27					0	0	0.000602	0	0
EMB	133418	broad.mit.edu	37	5	49724020	49724020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:49724020C>T	ENST00000303221.5	-	2	369	c.154G>A	c.(154-156)Gca>Aca	p.A52T	EMB_ENST00000508934.1_Missense_Mutation_p.A52T|EMB_ENST00000514111.1_Missense_Mutation_p.A2T|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	52						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AAGTTATTTGCCATTATTTCT	0.318000													11	41					0	0	0.010729	0	0
MSLNL	401827	broad.mit.edu	37	16	820915	820915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:820915C>T	ENST00000293892.3	-	13	2469	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N	MSLNL_ENST00000442466.1_Missense_Mutation_p.D473N			Q96KJ4	MSLNL_HUMAN	mesothelin-like	473					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TAGAGCACGTCCTTCCGGCTC	0.687000													4	13					0	0	0.009096	0	0
C1orf106	55765	broad.mit.edu	37	1	200868714	200868714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200868714C>T	ENST00000367342.4	+	3	624	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F	C1orf106_ENST00000413687.2_Missense_Mutation_p.L57F	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	142										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GAGACTCTGCCTTCGGGAAGC	0.647000													14	33					0	0	0.002450	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806484	93806484	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:93806484C>T	ENST00000315765.9	+	8	1391	c.1383C>T	c.(1381-1383)atC>atT	p.I461I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	461	Plastocyanin-like 3.				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)				GCCCAGTCATCAAGGCAGAGG	0.438000													6	10					0	0	0.001984	0	0
DGKI	9162	broad.mit.edu	37	7	137150693	137150693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:137150693G>A	ENST00000453654.1	-	27	2266	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	DGKI_ENST00000424189.2_Missense_Mutation_p.P879L|DGKI_ENST00000288490.5_Missense_Mutation_p.P866L|DGKI_ENST00000446122.1_Missense_Mutation_p.P848L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	866					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CATGCCCGGAGGTGTCCCCGC	0.542000													34	73					0	0	0.013726	0	0
UMODL1	89766	broad.mit.edu	37	21	43547287	43547287	+	Silent	SNP	G	G	A	rs147967794	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:43547287G>A	ENST00000400427.1	+	18	4029	c.3633G>A	c.(3631-3633)acG>acA	p.T1211T	UMODL1_ENST00000400424.1_Silent_p.T1083T|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Silent_p.T1155T|UMODL1_ENST00000408989.2_Silent_p.T1283T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1155	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.T1083T(1)|p.T1283T(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGTCCTGACGGAGTGCTGGG	0.567000													30	120					0	0	0.007291	0	0
TACR1	6869	broad.mit.edu	37	2	75425980	75425980	+	Silent	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:75425980T>C	ENST00000305249.4	-	1	846	c.81A>G	c.(79-81)caA>caG	p.Q27Q	TACR1_ENST00000409848.3_Silent_p.Q27Q	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	27					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GCCAGGCTGGTTGCACGAACT	0.537000													31	51					0	0	0.009535	0	0
TADA3	10474	broad.mit.edu	37	3	9831435	9831435	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:9831435G>A	ENST00000343450.2	-	3	967	c.420C>T	c.(418-420)atC>atT	p.I140I	TADA3_ENST00000440161.1_Silent_p.I140I|TADA3_ENST00000301964.2_Silent_p.I140I|TADA3_ENST00000492635.1_5'UTR	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	140					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGCACGTCGATAGGGTCAT	0.572000													92	329					0	0	0.014410	0	0
OR5M3	219482	broad.mit.edu	37	11	56237476	56237476	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56237476G>A	ENST00000312240.2	-	1	538	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTTTTCCACAGAAGTACAAGC	0.398000													30	39					0	0	0.009535	0	0
GPR171	29909	broad.mit.edu	37	3	150916315	150916315	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:150916315G>T	ENST00000309180.5	-	3	1089	c.859C>A	c.(859-861)Cac>Aac	p.H287N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	287						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGAGAGGTGATAGTACAGG	0.428000													21	84					5.35356e-11	5.45382e-11	0.002780	1	0
FAM227B	196951	broad.mit.edu	37	15	49869031	49869031	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:49869031G>A	ENST00000299338.6	-	7	756	c.453C>T	c.(451-453)ttC>ttT	p.F151F	FAM227B_ENST00000561064.1_Silent_p.F151F|FAM227B_ENST00000558594.1_3'UTR|FAM227B_ENST00000560246.1_3'UTR	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TGAATCCTGTGAAGCTGCAAC	0.328000													9	24					0	0	0.008291	0	0
BAAT	570	broad.mit.edu	37	9	104124832	104124832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:104124832C>T	ENST00000259407.2	-	4	1243	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	BAAT_ENST00000395051.3_Missense_Mutation_p.D379N	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	379					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AACCTCAAATCGTGGGTCGTT	0.542000													29	40					0	0	0.007291	0	0
HERC5	51191	broad.mit.edu	37	4	89384700	89384700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:89384700C>T	ENST00000264350.3	+	5	859	c.706C>T	c.(706-708)Ctt>Ttt	p.L236F		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	236					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGATCCATCCCTTATTGAAGG	0.438000													25	117					0	0	0.003330	0	0
RP11-876N24.2	0	broad.mit.edu	37	16	10960234	10960234	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:10960234C>T	ENST00000572017.1	-	0	438																											CTTGGACAACCTGCTGAAGGA	0.567000													10	36					0	0	0.006214	0	0
LOXL1	4016	broad.mit.edu	37	15	74240205	74240205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74240205G>A	ENST00000261921.7	+	5	1890	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	522	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCAGTGGATCGACATAACCGA	0.577000													47	163					0	0	0.014410	0	0
NPAP1	23742	broad.mit.edu	37	15	24923385	24923385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:24923385G>A	ENST00000329468.2	+	1	2845	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGTGCCCATGATTTCCTGAG	0.537000													115	309					0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	41400150	41400150	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:41400150C>T	ENST00000373198.3	-	5	844	c.609G>A	c.(607-609)gtG>gtA	p.V203V	PTPRT_ENST00000373201.1_Silent_p.V203V|PTPRT_ENST00000373193.3_Silent_p.V203V|PTPRT_ENST00000373190.1_Silent_p.V203V|PTPRT_ENST00000373187.1_Silent_p.V203V|PTPRT_ENST00000373184.1_Silent_p.V203V|PTPRT_ENST00000356100.2_Silent_p.V203V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	203	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCCACATTCACCTCCACGT	0.493000													46	151					0	0	0.014410	0	0
ADH6	130	broad.mit.edu	37	4	100125387	100125387	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:100125387G>A	ENST00000394899.2	-	9	1210	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	ADH6_ENST00000407820.2_Silent_p.L164L|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	0					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TAAAGTAACAGGATACAGCGG	0.318000													8	42					0	0	0.010729	0	0
CNR2	1269	broad.mit.edu	37	1	24201076	24201076	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:24201076C>T	ENST00000536471.1	-	3	1290	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G	CNR2_ENST00000374472.4_Silent_p.G344G			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	344					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GAGTGATTTTCCCATCAGCCT	0.507000													43	130					0	0	0.011902	0	0
FRAS1	80144	broad.mit.edu	37	4	79437009	79437009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:79437009G>A	ENST00000264895.6	+	66	10671	c.10231G>A	c.(10231-10233)Gat>Aat	p.D3411N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3406					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCCTGGCTACGATCGCCCCTT	0.552000													6	52					0	0	0.003080	0	0
TONSL	4796	broad.mit.edu	37	8	145667651	145667651	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145667651C>T	ENST00000409379.3	-	6	752	c.723G>A	c.(721-723)gaG>gaA	p.E241E		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	241					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGCACTCGCTCTCCATGAACC	0.627000													37	115					0	0	0.006230	0	0
GRK4	2868	broad.mit.edu	37	4	2994003	2994003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:2994003G>A	ENST00000398052.4	+	4	666	c.323G>A	c.(322-324)aGa>aAa	p.R108K	GRK4_ENST00000398051.4_Missense_Mutation_p.R76K|GRK4_ENST00000345167.6_Missense_Mutation_p.R76K|GRK4_ENST00000504933.1_Missense_Mutation_p.R108K	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	108	N-terminal.|RGS.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCTTAGATAGATTCTTCAAT	0.338000													8	51					0	0	0.008291	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936706	119936706	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:119936706G>A	ENST00000297350.4	-	5	1491	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	371					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGCTGTGAAGGAACCTGATGG	0.393000													64	242					0	0	0.014410	0	0
HFE2	148738	broad.mit.edu	37	1	145416898	145416898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:145416898C>T	ENST00000336751.5	+	4	1481	c.1243C>T	c.(1243-1245)Ctt>Ttt	p.L415F	HFE2_ENST00000497365.1_Missense_Mutation_p.L189F|HFE2_ENST00000475797.1_Missense_Mutation_p.L189F|HFE2_ENST00000357836.5_Missense_Mutation_p.L302F	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	415					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCTCCACTCCTTTCTGGGCT	0.498000													136	218					0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55973765	55973765	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:55973765C>T	ENST00000373965.2	-	10	1423	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	PCDH15_ENST00000395432.2_Silent_p.R306R|PCDH15_ENST00000320301.6_Silent_p.R343R|PCDH15_ENST00000395438.1_Silent_p.R343R|PCDH15_ENST00000414778.1_Silent_p.R348R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.R321R|PCDH15_ENST00000395446.1_Silent_p.R343R|PCDH15_ENST00000437009.1_Silent_p.R343R|PCDH15_ENST00000395440.1_Silent_p.R343R|PCDH15_ENST00000395442.1_Silent_p.R343R|PCDH15_ENST00000373955.1_Silent_p.R343R|PCDH15_ENST00000395445.1_Silent_p.R343R|PCDH15_ENST00000361849.3_Silent_p.R343R|PCDH15_ENST00000395433.1_Silent_p.R321R|PCDH15_ENST00000395430.1_Silent_p.R343R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	343	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTCTGCTGTCCTAGGATGCA	0.363000										HNSCC(58;0.16)			26	58					0	0	0.010818	0	0
KCNA10	3744	broad.mit.edu	37	1	111060588	111060588	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:111060588C>T	ENST00000369771.2	-	1	1209	c.822G>A	c.(820-822)gtG>gtA	p.V274V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	274						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGGTAGACTCCACCATGAAGA	0.532000													51	159					0	0	0.014410	0	0
PDGFRL	5157	broad.mit.edu	37	8	17486116	17486116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:17486116G>A	ENST00000541323.1	+	5	1071	c.626G>A	c.(625-627)aGg>aAg	p.R209K	PDGFRL_ENST00000398074.3_Missense_Mutation_p.R209K|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R209K	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	209						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		ACGCTCCACAGGGAATTCCCA	0.547000													45	103					0	0	0.009718	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956650	16956650	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:16956650G>A	ENST00000412962.1	-	0	294																											GGGGCGTGGGGATCACAGAGT	0.647000													8	95					0	0	0.003080	0	0
ERO1L	30001	broad.mit.edu	37	14	53119019	53119019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:53119019G>A	ENST00000395686.3	-	13	1286	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	355					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AAATGCAAAGGAAATGACCTG	0.279000													32	95					0	0	0.003271	0	0
INHBC	3626	broad.mit.edu	37	12	57843707	57843707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57843707G>A	ENST00000309668.2	+	2	1088	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	321					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGTACCCACGGCCCGGCGCCC	0.562000													42	114					0	0	0.006230	0	0
EMR1	2015	broad.mit.edu	37	19	6897271	6897271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6897271G>A	ENST00000312053.4	+	4	387	c.350G>A	c.(349-351)gGa>gAa	p.G117E	EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000450315.3_Missense_Mutation_p.G117E|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.G117E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	117	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTCCCACTGGAAATGACTGG	0.522000													25	55					0	0	0.007291	0	0
KAT6A	7994	broad.mit.edu	37	8	41790352	41790352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:41790352G>A	ENST00000396930.3	-	18	5929	c.5386C>T	c.(5386-5388)Cca>Tca	p.P1796S	KAT6A_ENST00000265713.2_Missense_Mutation_p.P1796S|KAT6A_ENST00000406337.1_Missense_Mutation_p.P1796S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1796					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGATGAGATGGAGCCAGCTGA	0.522000													50	186					0	0	0.014410	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50513579	50513579	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50513579C>T	ENST00000435965.1	-	2	431	c.258G>A	c.(256-258)cgG>cgA	p.R86R	CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000424201.2_Silent_p.R86R|CACNA2D2_ENST00000479441.1_Silent_p.R86R|CACNA2D2_ENST00000360963.3_Silent_p.R17R|CACNA2D2_ENST00000266039.3_Silent_p.R86R|CACNA2D2_ENST00000395083.1_Silent_p.R86R|CACNA2D2_ENST00000429770.1_Silent_p.R86R|CACNA2D2_ENST00000423994.2_Silent_p.R86R			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	86					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTCCAAAAATCCGCATCACGC	0.607000													5	23					0	0	0.000602	0	0
OCA2	4948	broad.mit.edu	37	15	28096618	28096618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:28096618G>A	ENST00000354638.3	-	22	2403	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	OCA2_ENST00000353809.5_Missense_Mutation_p.P726S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	750					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGAGCACGGGAATCTGTGGA	0.567000									Oculocutaneous Albinism				9	23					0	0	0.004482	0	0
MYH6	4624	broad.mit.edu	37	14	23865999	23865999	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23865999G>A	ENST00000405093.3	-	19	2266	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	MYH6_ENST00000356287.3_Silent_p.I732I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	732	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCCCTCAGGGATGGCCACTG	0.542000													27	108					0	0	0.008361	0	0
DNAJC13	23317	broad.mit.edu	37	3	132203454	132203454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:132203454C>T	ENST00000260818.6	+	29	3453	c.3205C>T	c.(3205-3207)Cgg>Tgg	p.R1069W		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1069							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGCCATCATTCGGCCTCTACC	0.358000													64	80					0	0	0.014410	0	0
CRB1	23418	broad.mit.edu	37	1	197390665	197390665	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:197390665C>T	ENST00000367400.3	+	6	1842	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CRB1_ENST00000538660.1_Silent_p.F569F|CRB1_ENST00000543483.1_Silent_p.F268F|CRB1_ENST00000544212.1_Silent_p.F50F|CRB1_ENST00000535699.1_Silent_p.F500F|CRB1_ENST00000367399.2_Silent_p.F457F|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	569	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.F569F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGGCATTTCGTGGAGGTAA	0.453000													68	102					0	0	0.014410	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756601	56756601	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56756601C>T	ENST00000326855.2	+	1	255	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGTTGATATCTGTTACACTT	0.353000													26	31					0	0	0.003954	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722495	16722495	+	RNA	SNP	G	G	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:16722495G>T	ENST00000417510.1	-	0	1235																											GAGGGAAAGGGAATCAAGGAT	0.572000													15	28					0.00244969	0.00248229	0.002450	1	0
NPIPB15	440348	broad.mit.edu	37	16	74419271	74419271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:74419271G>A	ENST00000429990.1	+	3	377	c.281G>A	c.(280-282)cGa>cAa	p.R94Q						nuclear pore complex interacting protein family, member B15																		TTCTGGTCTCGAAATGGACAT	0.473000													38	207					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237780760	237780760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:237780760G>A	ENST00000366574.2	+	38	6207	c.5890G>A	c.(5890-5892)Gaa>Aaa	p.E1964K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1962K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1948K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1964	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGACAAAGGAATTTAGATC	0.398000													33	66					0	0	0.003755	0	0
IL1F10	84639	broad.mit.edu	37	2	113832845	113832845	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:113832845C>T	ENST00000393197.2	+	4	784	c.363C>T	c.(361-363)ttC>ttT	p.F121F	IL1F10_ENST00000341010.2_Silent_p.F121F|IL1F10_ENST00000337569.3_Silent_p.F121F	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	121						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CTGGCTGGTTCCTGTGTGGCC	0.592000													56	125					0	0	0.014410	0	0
OR1S2	219958	broad.mit.edu	37	11	57970739	57970739	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:57970739C>T	ENST00000302592.6	-	1	914	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCTTATTCCTCAAGCTGTAGA	0.438000													47	70					0	0	0.014410	0	0
ALPI	248	broad.mit.edu	37	2	233322372	233322372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:233322372G>A	ENST00000295463.3	+	6	823	c.746G>A	c.(745-747)gGg>gAg	p.G249E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	249					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGCTGGACGGGAAGAACCTG	0.627000													44	94					0	0	0.013114	0	0
TRPM2	7226	broad.mit.edu	37	21	45833845	45833845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45833845G>A	ENST00000397928.1	+	20	3479	c.3034G>A	c.(3034-3036)Gac>Aac	p.D1012N	TRPM2_ENST00000300481.9_Missense_Mutation_p.D992N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.D1012N|TRPM2_ENST00000300482.5_Missense_Mutation_p.D1012N	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1012						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.D1012Y(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCCGAGAGCGACGCGACGCA	0.627000													137	468					0	0	0.014410	0	0
CLIC5	53405	broad.mit.edu	37	6	45870832	45870832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:45870832C>T	ENST00000185206.6	-	6	1378	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	CLIC5_ENST00000339561.6_Missense_Mutation_p.R250Q	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	409					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGCTCAGGATCGGCTGAGGCG	0.552000													26	84					0	0	0.008361	0	0
CDH26	60437	broad.mit.edu	37	20	58558072	58558072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:58558072C>T	ENST00000348616.4	+	5	788	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CDH26_ENST00000244047.5_Missense_Mutation_p.P163L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	163	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATCATGCACCCCAGTTTCCA	0.463000													82	221					0	0	0.014410	0	0
DENND5B	160518	broad.mit.edu	37	12	31595755	31595755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:31595755G>A	ENST00000389082.5	-	7	2230	c.1966C>T	c.(1966-1968)Cca>Tca	p.P656S	DENND5B_ENST00000536562.1_Missense_Mutation_p.P691S|DENND5B_ENST00000306833.6_Missense_Mutation_p.P691S|DENND5B_ENST00000354285.4_Missense_Mutation_p.P678S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	656						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGTAACTTTGGAAAGAACCCC	0.428000													4	27					0	0	0.001168	0	0
FERMT3	83706	broad.mit.edu	37	11	63978283	63978283	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:63978283T>G	ENST00000279227.5	+	3	456	c.361T>G	c.(361-363)Ttc>Gtc	p.F121V	FERMT3_ENST00000345728.5_Missense_Mutation_p.F121V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	121					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCAGCCCCTCTTCCAGGCTGT	0.667000													76	102					0	0	0.014410	0	0
CRB1	23418	broad.mit.edu	37	1	197390744	197390744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:197390744C>T	ENST00000367400.3	+	6	1921	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	CRB1_ENST00000538660.1_Missense_Mutation_p.P596S|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.P77S|CRB1_ENST00000535699.1_Missense_Mutation_p.P527S|CRB1_ENST00000367399.2_Missense_Mutation_p.P484S|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	596	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGCGAAAGCTCCTACTCCACT	0.458000													43	131					0	0	0.009718	0	0
C12orf50	160419	broad.mit.edu	37	12	88390364	88390364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:88390364C>T	ENST00000298699.2	-	5	529	c.349G>A	c.(349-351)Gag>Aag	p.E117K	C12orf50_ENST00000550553.1_Missense_Mutation_p.E117K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	117										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TAACACATCTCCTTTATTGCT	0.284000													15	40					0	0	0.002450	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458594	45458594	+	RNA	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:45458594C>T	ENST00000548424.1	+	0	448																											TAGAGCACCTCTTTTCTCTCT	0.463000													10	23					0	0	0.006214	0	0
AGO2	27161	broad.mit.edu	37	8	141572557	141572557	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:141572557G>A	ENST00000220592.5	-	4	625	c.513C>T	c.(511-513)tcC>tcT	p.S171S	AGO2_ENST00000519980.1_Silent_p.S171S	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CTCACCTCATGGATGGCAAGT	0.642000													24	77					0	0	0.002780	0	0
SETBP1	26040	broad.mit.edu	37	18	42531182	42531182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:42531182G>A	ENST00000282030.5	+	4	2173	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	626						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGAAAGCGACGACGCAATTTA	0.522000									Schinzel-Giedion syndrome				21	29					0	0	0.014323	0	0
FBXL16	146330	broad.mit.edu	37	16	745561	745561	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:745561C>T	ENST00000397621.1	-	3	1327	c.996G>A	c.(994-996)aaG>aaA	p.K332K	FBXL16_ENST00000562563.1_Silent_p.K120K|FBXL16_ENST00000324361.5_Silent_p.K332K	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	332										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CGTCGGTGACCTTGGAGCAGC	0.667000													5	29					0	0	0.001168	0	0
MUC2	4583	broad.mit.edu	37	11	1093686	1093686	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1093686C>T	ENST00000441003.2	+	30	5532	c.5505C>T	c.(5503-5505)ccC>ccT	p.P1835P	MUC2_ENST00000333592.6_Silent_p.P123P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1838						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCACGGGGCCCCCCACCCACA	0.622000													94	151					0	0	0.014410	0	0
EIF3B	8662	broad.mit.edu	37	7	2409115	2409115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:2409115C>T	ENST00000360876.4	+	10	1468	c.1412C>T	c.(1411-1413)tCt>tTt	p.S471F	EIF3B_ENST00000397011.2_Missense_Mutation_p.S471F	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	471					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGAGACTTTTCTTGGTCTCCT	0.428000													155	346					0	0	0.014410	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994729	143994729	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:143994729G>A	ENST00000323110.2	-	6	1095	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	365					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCCGCCCGCAGCAAGGGCAGC	0.697000									Familial Hyperaldosteronism type I				39	105					0	0	0.007835	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795736	133795736	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:133795736G>A	ENST00000321016.8	-	14	2162	c.1932C>T	c.(1930-1932)atC>atT	p.I644I	IGSF9B_ENST00000533871.2_Silent_p.I644I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	644	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTAGCGGTCGATGGGAAAGC	0.612000													24	28					0	0	0.007291	0	0
STAB2	55576	broad.mit.edu	37	12	104044340	104044340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:104044340G>A	ENST00000388887.2	+	11	1445	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	414	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACAGACAAGGGACTGAAAGGA	0.418000													28	56					0	0	0.007291	0	0
TBL1X	6907	broad.mit.edu	37	X	9665457	9665457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:9665457C>T	ENST00000217964.7	+	12	1742	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	TBL1X_ENST00000407597.2_Missense_Mutation_p.P368S|TBL1X_ENST00000424279.1_Missense_Mutation_p.P317S|TBL1X_ENST00000536365.1_Missense_Mutation_p.P317S|TBL1X_ENST00000380961.1_Missense_Mutation_p.P317S	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	368					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				ACAGCAGTTTCCTTTTCATTC	0.373000													70	126					0	0	0.014410	0	0
OR4K13	390433	broad.mit.edu	37	14	20502846	20502846	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20502846C>T	ENST00000315693.2	-	1	73	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAATAAAATCTGAAGATTTT	0.398000													14	35					0	0	0.002450	0	0
PRR23B	389151	broad.mit.edu	37	3	138739004	138739004	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138739004C>A	ENST00000329447.5	-	1	764	c.500G>T	c.(499-501)cGg>cTg	p.R167L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	167								p.R167Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGTCCATCCGGAGCTCCGG	0.647000													31	88					9.93527e-08	1.01033e-07	0.013726	1	0
GAB4	128954	broad.mit.edu	37	22	17445691	17445691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:17445691C>T	ENST00000400588.1	-	8	1548	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	481										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTTCTGAGTCTGTGTTGGTG	0.567000													50	106					0	0	0.014410	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822170	43822170	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:43822170G>A	ENST00000389420.3	-	26	3818	c.3819C>T	c.(3817-3819)tcC>tcT	p.S1273S	ADAMTS20_ENST00000553158.1_Silent_p.S1273S|ADAMTS20_ENST00000395541.2_Silent_p.S391S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1273			S -> F (in dbSNP:rs7310011).			proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCTGCACAGGGGAACTAGGAA	0.458000													16	46					0	0	0.008871	0	0
TFR2	7036	broad.mit.edu	37	7	100229531	100229531	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100229531A>T	ENST00000462107.1	-	9	1291	c.1004T>A	c.(1003-1005)tTc>tAc	p.F335Y	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.F335Y|TFR2_ENST00000431692.1_Intron			Q9UP52	TFR2_HUMAN	transferrin receptor 2	335					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAAGGAAGGGAAGCCAGGTGT	0.582000													44	115					0	0	0.008740	0	0
USP26	83844	broad.mit.edu	37	X	132160489	132160489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:132160489G>A	ENST00000511190.1	-	6	2229	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	USP26_ENST00000370832.1_Missense_Mutation_p.S587L|USP26_ENST00000406273.1_Missense_Mutation_p.S587L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	587					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TGCAGGCCATGATACACTGAT	0.418000													22	32					0	0	0.012319	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696263	48696263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48696263G>A	ENST00000352832.5	+	31	5945	c.5573G>A	c.(5572-5574)tGg>tAg	p.W1858*	CACNA1G_ENST00000515411.1_Nonsense_Mutation_p.W1874*|CACNA1G_ENST00000512389.1_Nonsense_Mutation_p.W1881*|CACNA1G_ENST00000514181.1_Nonsense_Mutation_p.W1867*|CACNA1G_ENST00000513964.1_Nonsense_Mutation_p.W1847*|CACNA1G_ENST00000514717.1_Nonsense_Mutation_p.W1835*|CACNA1G_ENST00000514079.1_Nonsense_Mutation_p.W1899*|CACNA1G_ENST00000513689.2_Nonsense_Mutation_p.W1847*|CACNA1G_ENST00000515765.1_Nonsense_Mutation_p.W1881*|CACNA1G_ENST00000507336.1_Nonsense_Mutation_p.W1881*|CACNA1G_ENST00000359106.5_Nonsense_Mutation_p.W1892*|CACNA1G_ENST00000442258.2_Nonsense_Mutation_p.W1851*|CACNA1G_ENST00000358244.5_Nonsense_Mutation_p.W1858*|CACNA1G_ENST00000354983.4_Nonsense_Mutation_p.W1858*|CACNA1G_ENST00000505165.1_Nonsense_Mutation_p.W1892*|CACNA1G_ENST00000429973.2_Nonsense_Mutation_p.W1874*|CACNA1G_ENST00000507896.1_Nonsense_Mutation_p.W1881*|CACNA1G_ENST00000360761.4_Nonsense_Mutation_p.W1869*|CACNA1G_ENST00000510366.1_Nonsense_Mutation_p.W1840*|CACNA1G_ENST00000507609.1_Nonsense_Mutation_p.W1885*|CACNA1G_ENST00000507510.2_Nonsense_Mutation_p.W1892*|CACNA1G_ENST00000503485.1_Nonsense_Mutation_p.W1858*|CACNA1G_ENST00000515165.1_Nonsense_Mutation_p.W1892*|CACNA1G_ENST00000510115.1_Nonsense_Mutation_p.W1858*|CACNA1G_ENST00000502264.1_Nonsense_Mutation_p.W1869*	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1892					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCTTCCTCTGGCCTGGGGTC	0.692000													19	34					0	0	0.007413	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22364321C>T	ENST00000397121.2	-	3	515	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303000													12	46					0	0	0.010729	0	0
FASN	2194	broad.mit.edu	37	17	80043121	80043121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80043121G>A	ENST00000306749.2	-	24	4498	c.4280C>T	c.(4279-4281)tCt>tTt	p.S1427F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1427					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GACCTTCAGAGACTCCACCCA	0.682000													19	45					0	0	0.007413	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626878	108626878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:108626878C>T	ENST00000264047.2	+	9	1580	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A435V|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A330V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	435					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACCTATGGGGCCGTGGCAGGT	0.488000													24	55					0	0	0.005443	0	0
OR6M1	390261	broad.mit.edu	37	11	123676285	123676285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:123676285C>T	ENST00000309154.2	-	1	810	c.773G>A	c.(772-774)aGa>aAa	p.R258K		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTGATTGGGTCTCACATACAC	0.507000													22	35					0	0	0.012319	0	0
C14orf177	283598	broad.mit.edu	37	14	99183489	99183489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:99183489G>A	ENST00000325812.2	+	4	675	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	86										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GAGACATGAAGAAACTTCTCC	0.448000													36	78					0	0	0.004878	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146326	10146326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:10146326C>T	ENST00000450660.2	-	2	349	c.133G>A	c.(133-135)Gac>Aac	p.D45N	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.D45N	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		ACTTCAAGGTCGGACGGTGTG	0.557000													95	128					0	0	0.014410	0	0
NFATC3	4775	broad.mit.edu	37	16	68156594	68156594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:68156594C>T	ENST00000349223.5	+	2	1032	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.P270S|NFATC3_ENST00000329524.4_Missense_Mutation_p.P270S|NFATC3_ENST00000346183.3_Missense_Mutation_p.P270S	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	270	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.P270S(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCCCACATCCCCCTGTGGGAA	0.582000													44	70					0	0	0.009718	0	0
KPRP	448834	broad.mit.edu	37	1	152732408	152732408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152732408C>T	ENST00000368773.1	+	2	402	c.344C>T	c.(343-345)tCt>tTt	p.S115F	KPRP_ENST00000606109.1_Missense_Mutation_p.S115F	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	115	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGCCAATCTGAGGTGTCC	0.498000													248	418					0	0	0.014410	0	0
TKTL2	84076	broad.mit.edu	37	4	164393517	164393517	+	Missense_Mutation	SNP	G	G	A	rs145423814		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:164393517G>A	ENST00000280605.3	-	1	1530	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	457						cytoplasm	metal ion binding|transketolase activity	p.S457L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGCTCTGTCGAGATGGCATC	0.463000													34	173					0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179515540	179515540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179515540G>A	ENST00000589042.1	-	209	39871	c.39647C>T	c.(39646-39648)cCt>cTt	p.P13216L	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11709L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10782L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11571	Ig-like 88.						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)			TTCCAAGACAGGTTTCTTTGG	0.408000													3	6					0	0	0.009096	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820571	159820571	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:159820571G>A	ENST00000497452.1	-	0	517																											GGACCTGGTGGAAGTTGAGGC	0.348000													32	48					0	0	0.004289	0	0
DCHS2	54798	broad.mit.edu	37	4	155249265	155249265	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155249265A>G	ENST00000357232.3	-	12	2632	c.2633T>C	c.(2632-2634)gTt>gCt	p.V878A	DCHS2_ENST00000339452.1_Missense_Mutation_p.V1333A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	878	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAGTATGTAACTTCTGCATT	0.368000													27	67					0	0	0.005443	0	0
PRKCG	5582	broad.mit.edu	37	19	54403497	54403497	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54403497A>T	ENST00000263431.3	+	12	1574	c.1292A>T	c.(1291-1293)tAt>tTt	p.Y431F	PRKCG_ENST00000542049.1_Missense_Mutation_p.Y318F|PRKCG_ENST00000540413.1_Missense_Mutation_p.Y431F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	431	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GACCGCCTGTATTTCGTGATG	0.542000													38	49					0	0	0.008740	0	0
CCDC11	220136	broad.mit.edu	37	18	47777253	47777253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:47777253C>T	ENST00000398545.4	-	5	988	c.871G>A	c.(871-873)Gcc>Acc	p.A291T		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	291										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTGTAGGGCTTTTTGCAAA	0.418000													165	220					0	0	0.014410	0	0
RPL27	6155	broad.mit.edu	37	17	41152077	41152077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:41152077C>T	ENST00000589913.1	+	2	483	c.209C>T	c.(208-210)tCt>tTt	p.S70F	RPL27_ENST00000589037.1_Missense_Mutation_p.S70F|RPL27_ENST00000590864.1_Missense_Mutation_p.S14F|RPL27_ENST00000253788.5_Missense_Mutation_p.S70F			P61353	RL27_HUMAN	ribosomal protein L27	70					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		AAGATAAAATCTTTTGTGAAA	0.438000													35	79					0	0	0.003755	0	0
LRRC32	2615	broad.mit.edu	37	11	76371863	76371863	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:76371863G>A	ENST00000407242.2	-	3	1016	c.774C>T	c.(772-774)ttC>ttT	p.F258F	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.F258F|LRRC32_ENST00000260061.5_Silent_p.F258F	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	258						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCAGGTCGGGGAAATGGAGCA	0.622000													52	75					0	0	0.014410	0	0
TEK	7010	broad.mit.edu	37	9	27205036	27205036	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:27205036G>A	ENST00000380036.4	+	14	2779	c.2337G>A	c.(2335-2337)agG>agA	p.R779R	TEK_ENST00000406359.4_Silent_p.R736R|TEK_ENST00000519097.1_Silent_p.R632R	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	779					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATGTGCAAAGGAGAATGGCCC	0.463000													18	50					0	0	0.004990	0	0
TMEM63C	57156	broad.mit.edu	37	14	77722995	77722995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:77722995G>A	ENST00000298351.4	+	24	2491	c.2347G>A	c.(2347-2349)Ggc>Agc	p.G783S		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	783						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGGTCTGAGGGGCTTTGCGAG	0.622000													79	191					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9075783	9075783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9075783G>A	ENST00000397910.4	-	3	11866	c.11663C>T	c.(11662-11664)tCt>tTt	p.S3888F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3889	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						TTCTGAGACAGAATTCATCAT	0.458000													15	34					0	0	0.003163	0	0
F8	2157	broad.mit.edu	37	X	154185239	154185239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:154185239C>T	ENST00000360256.4	-	11	1945	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	582	F5/8 type A 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.G582E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACCTGGTTTCCTCTTTGATC	0.418000													81	125					0	0	0.014410	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035968	36035968	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:36035968C>T	ENST00000282507.3	-	7	1505	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	UGT3A2_ENST00000545528.1_Silent_p.A166A|UGT3A2_ENST00000513300.1_Silent_p.A434A	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	468						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGTGCGTCGCGCCCCCTG	0.637000													12	42					0	0	0.010729	0	0
PRKAA2	5563	broad.mit.edu	37	1	57170073	57170073	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57170073C>T	ENST00000371244.4	+	7	1284	c.1218C>T	c.(1216-1218)atC>atT	p.I406I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	406					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATCTTGGAATCCGAAGTCAGA	0.408000													33	95					0	0	0.012213	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273314	18273314	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18273314C>T	ENST00000593731.1	+	9	1667	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	PIK3R2_ENST00000222254.7_Silent_p.L369L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	369	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CGCTGACCCTCAGGTGGGGGC	0.587000													44	48					0	0	0.013114	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32926166	32926166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:32926166C>T	ENST00000361627.3	+	10	1990	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.P234L|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.P395L|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.P423L|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.P234L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	423					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TGCTTTTCTCCTAAAATCAGC	0.338000													6	26					0	0	0.001984	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166731	72166731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:72166731C>T	ENST00000537465.1	-	10	1521	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E310K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E455K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	455										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CACTCCGCCTCCTTGGACTTG	0.577000													34	156					0	0	0.010818	0	0
SARS	6301	broad.mit.edu	37	1	109777924	109777924	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:109777924C>T	ENST00000369923.4	+	7	851	c.840C>T	c.(838-840)caC>caT	p.H280H	SARS_ENST00000234677.2_Silent_p.H280H			P49591	SYSC_HUMAN	seryl-tRNA synthetase	280					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CTGCCCTGCACCGGGATGAGT	0.582000													381	483					0	0	0.014410	0	0
WISP1	8840	broad.mit.edu	37	8	134239698	134239698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:134239698G>A	ENST00000250160.6	+	5	955	c.849G>A	c.(847-849)atG>atA	p.M283I	WISP1_ENST00000517423.1_Missense_Mutation_p.E132K|WISP1_ENST00000220856.6_Missense_Mutation_p.M196I|WISP1_ENST00000519433.1_Missense_Mutation_p.M38I|WISP1_ENST00000377863.2_Missense_Mutation_p.M111I	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	283	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGCATCCATGAACTTCACAC	0.517000													23	103					0	0	0.003954	0	0
NUGGC	389643	broad.mit.edu	37	8	27903173	27903173	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:27903173G>A	ENST00000413272.2	-	12	1459	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	NUGGC_ENST00000341513.6_Silent_p.I439I	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		TTAACTTAGGGATTTCTGGAA	0.418000													55	144					0	0	0.014410	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687295	27687295	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:27687295G>A	ENST00000438700.3	-	4	2349	c.2232C>T	c.(2230-2232)atC>atT	p.I744I		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	744					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGAAGAAATGATTTCATTTG	0.308000													11	19					0	0	0.013537	0	0
C12orf40	283461	broad.mit.edu	37	12	40037717	40037717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:40037717C>T	ENST00000324616.5	+	3	354	c.200C>T	c.(199-201)cCt>cTt	p.P67L	C12orf40_ENST00000405531.3_Missense_Mutation_p.P67L|C12orf40_ENST00000398716.1_5'UTR	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	67										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAGAAAATTCCTGGTAAGTCA	0.323000													11	40					0	0	0.001855	0	0
NDNF	79625	broad.mit.edu	37	4	121958281	121958281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:121958281G>A	ENST00000379692.4	-	4	1371	c.845C>T	c.(844-846)tCc>tTc	p.S282F	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	282	Fibronectin type-III 1.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CTTGGGCCTGGAGTAGACATG	0.443000													21	49					0	0	0.012319	0	0
LTBP2	4053	broad.mit.edu	37	14	75017892	75017892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:75017892G>A	ENST00000261978.4	-	7	1947	c.1561C>T	c.(1561-1563)Cac>Tac	p.H521Y	LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Missense_Mutation_p.H521Y	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	521					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGAGGCTGTGGCCAGGGCTG	0.711000													18	66					0	0	0.008871	0	0
IRF8	3394	broad.mit.edu	37	16	85952285	85952285	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:85952285C>T	ENST00000268638.5	+	7	1286	c.864C>T	c.(862-864)ttC>ttT	p.F288F	IRF8_ENST00000562492.1_Silent_p.F84F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	288					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGGGCGTGTTCGTCAAGCGGC	0.682000													21	40					0	0	0.010504	0	0
GABRQ	55879	broad.mit.edu	37	X	151820122	151820122	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151820122G>A	ENST00000370306.2	+	8	1055	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	345						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTGCTGGAGTATGTCTACA	0.512000													80	141					0	0	0.014410	0	0
SRRM2	23524	broad.mit.edu	37	16	2817055	2817055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:2817055C>T	ENST00000301740.8	+	11	7075	c.6526C>T	c.(6526-6528)Cat>Tat	p.H2176Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2176	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAGAAAATCATGCTCAGTC	0.567000													40	104					0	0	0.006230	0	0
ABCA4	24	broad.mit.edu	37	1	94474416	94474416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:94474416G>A	ENST00000370225.3	-	41	5812	c.5726C>T	c.(5725-5727)cCc>cTc	p.P1909L	ABCA4_ENST00000535881.1_Missense_Mutation_p.P28L|ABCA4_ENST00000536513.1_Missense_Mutation_p.P179L|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1909					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCCTTAGTGGGCTCGGCAAT	0.458000													137	144					0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158605815	158605815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158605815C>T	ENST00000368148.3	-	38	5500	c.5320G>A	c.(5320-5322)Gat>Aat	p.D1774N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1774N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1774					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGCCATATCCAGCACATTC	0.498000													60	220					0	0	0.014410	0	0
TEKT4	150483	broad.mit.edu	37	2	95540641	95540641	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:95540641C>T	ENST00000295201.4	+	4	971	c.834C>T	c.(832-834)tcC>tcT	p.S278S	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	278					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCGACACCTCCGAGGACCTGC	0.682000													15	23					0	0	0.004007	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021274	45021274	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:45021274G>A	ENST00000454753.1	-	0	1320							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ATGTGCACTTGGTCAGGACCA	0.552000													44	67					0	0	0.014410	0	0
MSH2	4436	broad.mit.edu	37	2	47703666	47703666	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:47703666C>T	ENST00000406134.1	+	13	2228	c.2166C>T	c.(2164-2166)gtC>gtT	p.V722V	MSH2_ENST00000543555.1_Silent_p.V656V|MSH2_ENST00000233146.2_Silent_p.V722V			P43246	MSH2_HUMAN	mutS homolog 2	722					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAAGGAGTCTCCACGTTCA	0.473000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	109					0	0	0.004289	0	0
KCTD19	146212	broad.mit.edu	37	16	67327982	67327982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67327982C>T	ENST00000304372.5	-	12	1738	c.1683G>A	c.(1681-1683)atG>atA	p.M561I		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	561						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CAGCCTCATCCATCTGGTTGG	0.567000													55	297					0	0	0.014410	0	0
KIF16B	55614	broad.mit.edu	37	20	16407881	16407881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:16407881G>A	ENST00000354981.2	-	15	1637	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	KIF16B_ENST00000355755.3_Missense_Mutation_p.H494Y|KIF16B_ENST00000408042.1_Missense_Mutation_p.H494Y|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	494	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCAAGGCCATGAAGAACTAAA	0.398000													24	41					0	0	0.004656	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144532	12144532	+	Silent	SNP	C	C	T	rs146787215		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12144532C>T	ENST00000263932.2	+	2	297	c.75C>T	c.(73-75)ttC>ttT	p.F25F	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	25					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGACCCTTCGAGGACACCT	0.612000													54	116					0	0	0.014410	0	0
EGFL6	25975	broad.mit.edu	37	X	13588040	13588040	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:13588040C>T	ENST00000361306.1	+	1	317	c.60C>T	c.(58-60)ttC>ttT	p.F20F	EGFL6_ENST00000380602.3_Silent_p.F20F	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	20					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CAGGTGGTTTCGGGAACGCGG	0.692000													25	43					0	0	0.006320	0	0
TOX2	84969	broad.mit.edu	37	20	42694607	42694607	+	Silent	SNP	C	C	T	rs141373012	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:42694607C>T	ENST00000358131.5	+	6	1370	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	TOX2_ENST00000372999.1_Silent_p.L364L|TOX2_ENST00000423191.1_Silent_p.L364L|TOX2_ENST00000435864.2_Silent_p.L284L|TOX2_ENST00000341197.3_Silent_p.L406L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	388	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCACCAGCAGCTGTCACTGCC	0.716000													29	58					0	0	0.007291	0	0
LRP1B	53353	broad.mit.edu	37	2	141250219	141250219	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141250219C>T	ENST00000389484.3	-	57	10049	c.9078G>A	c.(9076-9078)agG>agA	p.R3026R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3026					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCTAATTTTCCTTATCTCAT	0.353000										TSP Lung(27;0.18)			39	93					0	0	0.014410	0	0
VPREB1	7441	broad.mit.edu	37	22	22599708	22599708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:22599708G>A	ENST00000403807.3	+	2	536	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	VPREB1_ENST00000302273.2_Missense_Mutation_p.E132K			P12018	VPREB_HUMAN	pre-B lymphocyte 1	133					immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ggagtgggaggaagaaatgga	0.577000													8	25					0	0	0.004482	0	0
PI15	51050	broad.mit.edu	37	8	75757424	75757424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:75757424C>T	ENST00000260113.2	+	4	633	c.454C>T	c.(454-456)Cca>Tca	p.P152S	RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.P152S|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	152						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTATGCTTTTCCATATCCCCA	0.388000													31	107					0	0	0.012213	0	0
LOC440040	440040	broad.mit.edu	37	11	49831528	49831528	+	RNA	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:49831528A>T	ENST00000527477.1	+	0	1753																											TGGAAAGGGAAGAATCAGAAT	0.458000													17	38					0	0	0.004990	0	0
IL31RA	133396	broad.mit.edu	37	5	55212752	55212752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:55212752C>T	ENST00000447346.2	+	15	2164	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.S558F|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	668					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCCAGAAAATCCCAATACCTA	0.512000													28	57					0	0	0.006320	0	0
ROR2	4920	broad.mit.edu	37	9	94538029	94538029	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:94538029G>A	ENST00000375708.3	-	2	367	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	57	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCTTTCAGAGTTGGAATC	0.552000											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	56					0	0	0.008871	0	0
UNC79	57578	broad.mit.edu	37	14	94067104	94067104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94067104C>T	ENST00000553484.1	+	25	3716	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S	UNC79_ENST00000555664.1_Missense_Mutation_p.P1188S|UNC79_ENST00000393151.2_Missense_Mutation_p.P1188S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1011S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1188						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAGGAATTTCCTTTTCCTAC	0.403000													17	52					0	0	0.007413	0	0
CRYBG3	131544	broad.mit.edu	37	3	97631107	97631107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:97631107G>A	ENST00000182096.4	+	13	2321	c.2257G>A	c.(2257-2259)Gtt>Att	p.V753I		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTCTTTTAAAGTTCTTCGAGG	0.338000													38	58					0	0	0.004878	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148891414	148891414	+	Silent	SNP	T	T	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:148891414T>C	ENST00000261798.5	-	6	1050	c.618A>G	c.(616-618)tcA>tcG	p.S206S	CSNK1A1_ENST00000515435.1_Silent_p.S145S|CSNK1A1_ENST00000377843.2_Silent_p.S206S|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000515768.1_Silent_p.S234S|CSNK1A1_ENST00000504676.1_Silent_p.S117S	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	206	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CATATCCTAATGATTCCATGT	0.338000													5	89					0	0	0.001168	0	0
GDF10	2662	broad.mit.edu	37	10	48428863	48428863	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:48428863C>T	ENST00000224605.2	-	2	1288	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	341					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCCCTTCTTCCTGCGGTCTT	0.667000													24	33					0	0	0.014323	0	0
RARRES2	5919	broad.mit.edu	37	7	150037191	150037191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:150037191C>T	ENST00000466675.1	-	2	1310	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	RARRES2_ENST00000482669.1_Missense_Mutation_p.G93R|RARRES2_ENST00000223271.3_Missense_Mutation_p.G93R			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	93					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCACTCACCCCATTGGGCCTG	0.567000													348	951					0	0	0.014410	0	0
SP140	11262	broad.mit.edu	37	2	231112769	231112769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:231112769G>A	ENST00000392045.3	+	8	995	c.881G>A	c.(880-882)gGa>gAa	p.G294E	SP140_ENST00000420434.3_Missense_Mutation_p.G294E|SP140_ENST00000417495.3_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.G268E|SP140_ENST00000486687.2_Intron|SP140_ENST00000350136.5_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	294					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTCCAGAGGGAAGAGACAAA	0.512000													11	37					0	0	0.013537	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715081	65715081	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65715081G>A	ENST00000532620.1	+	0	1016							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GGAGAGCACAGGACTCCCTGC	0.622000													26	47					0	0	0.003954	0	0
ASXL3	80816	broad.mit.edu	37	18	31323950	31323950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:31323950G>A	ENST00000269197.5	+	12	4138	c.4138G>A	c.(4138-4140)Gaa>Aaa	p.E1380K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTGGGAGTGAAGAACAGGC	0.507000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	92					0	0	0.014410	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998653	112998653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:112998653C>T	ENST00000271277.6	+	6	764	c.539C>T	c.(538-540)tCc>tTc	p.S180F		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	180						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCTCTCATCCATGCTAGTG	0.498000													73	67					0	0	0.014410	0	0
TREML4	285852	broad.mit.edu	37	6	41204270	41204270	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:41204270C>T	ENST00000341495.2	+	5	657	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	TREML4_ENST00000448827.2_Silent_p.L185L	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	185						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCCAGATTCCTGGTCTTGGT	0.592000													35	68					0	0	0.007835	0	0
RARRES1	5918	broad.mit.edu	37	3	158428691	158428691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:158428691C>T	ENST00000237696.5	-	3	651	c.371G>A	c.(370-372)gGg>gAg	p.G124E	RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Missense_Mutation_p.G124E	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	124					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AGAACATTTCCCCAAACGTCC	0.443000													128	158					0	0	0.014410	0	0
ABHD2	11057	broad.mit.edu	37	15	89736470	89736470	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:89736470A>C	ENST00000352732.5	+	10	1521	c.1001A>C	c.(1000-1002)tAt>tCt	p.Y334S	ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334S|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334S	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	334						integral to membrane	carboxylesterase activity	p.Y334C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGCAGATTTATGTTCCTCTC	0.408000													44	89					0	0	0.014410	0	0
BRINP1	1620	broad.mit.edu	37	9	121929407	121929407	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:121929407C>T	ENST00000265922.3	-	8	2702	c.2241G>A	c.(2239-2241)acG>acA	p.T747T	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		747					cell cycle arrest|cell death	cytoplasm	protein binding	p.T747T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGAGGATCTCCGTGTTGTACA	0.512000													107	286					0	0	0.014410	0	0
PCNX	22990	broad.mit.edu	37	14	71443822	71443822	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:71443822C>T	ENST00000304743.2	+	6	1214	c.768C>T	c.(766-768)tcC>tcT	p.S256S	PCNX_ENST00000439984.3_Silent_p.S256S|PCNX_ENST00000238570.5_Silent_p.S256S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	256						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTCTCTGTCCAGCGCCTGTG	0.502000													24	54					0	0	0.002780	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464375	141464375	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141464375C>T	ENST00000247879.2	+	1	479	c.417C>T	c.(415-417)ctC>ctT	p.L139L	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	139					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GTGCACTGCTCTTATCCTGTG	0.473000													44	99					0	0	0.009718	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2016688	2016688	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:2016688G>A	ENST00000382722.5	-	6	1061	c.699C>T	c.(697-699)gtC>gtT	p.V233V	CACNA2D4_ENST00000585732.1_Silent_p.V233V|CACNA2D4_ENST00000587995.1_Silent_p.V233V|CACNA2D4_ENST00000588077.1_Silent_p.V169V|CACNA2D4_ENST00000585708.1_Silent_p.V169V|CACNA2D4_ENST00000586184.1_Silent_p.V233V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	233						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			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)		TCTCCACGAAGACAGCATTCA	0.438000													12	41					0	0	0.013537	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90534129	90534129	+	RNA	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:90534129G>A	ENST00000602681.1	+	0	875																											GGGCAGAGAGGGAGAGCCGGT	0.607000													23	43					0	0	0.012319	0	0
SEPT3	55964	broad.mit.edu	37	22	42377782	42377782	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:42377782C>T	ENST00000396425.3	+	2	275	c.144C>T	c.(142-144)atC>atT	p.I48I	SEPT3_ENST00000328414.8_Silent_p.I48I|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000396426.3_Silent_p.I48I|CTA-250D10.19_ENST00000424613.1_RNA	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	48					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ACACCATCATCGAGCAGATGC	0.597000													38	59					0	0	0.004878	0	0
PYGO2	90780	broad.mit.edu	37	1	154932008	154932008	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:154932008G>A	ENST00000368457.2	-	3	639	c.468C>T	c.(466-468)ccC>ccT	p.P156P	PYGO2_ENST00000368456.1_Silent_p.P119P	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	156	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTTGCCTGGGGGTGGGTAGC	0.637000													85	140					0	0	0.014410	0	0
SYT16	83851	broad.mit.edu	37	14	62547948	62547948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:62547948G>A	ENST00000430451.2	+	4	1587	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	464										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCCAGAAGGGGAAATGAAAGT	0.498000													12	27					0	0	0.001855	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918894	17918894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17918894C>T	ENST00000318683.6	+	2	425	c.278C>T	c.(277-279)cCc>cTc	p.P93L	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P93L	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	93					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGCCACTTTCCCCTGCTGCAG	0.632000													44	60					0	0	0.014410	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059329	152059329	+	Missense_Mutation	SNP	C	C	T	rs114173361	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152059329C>T	ENST00000368806.1	-	3	893	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	277							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTAACTTCCTGATCTTCA	0.433000													123	221					0	0	0.014410	0	0
MAP3K13	9175	broad.mit.edu	37	3	185155255	185155255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:185155255G>A	ENST00000265026.3	+	3	830	c.496G>A	c.(496-498)Gag>Aag	p.E166K	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E22K|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E22K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E166K	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	166					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGTGCCATTTGAGGAGATCTC	0.512000													83	120					0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	70841804	70841804	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:70841804G>A	ENST00000393567.2	-	86	15195	c.15045C>T	c.(15043-15045)atC>atT	p.I5015I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5015										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAAGAGGGGGATGATATACT	0.542000													36	101					0	0	0.006999	0	0
PIM3	415116	broad.mit.edu	37	22	50355389	50355389	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:50355389C>T	ENST00000360612.4	+	4	981	c.546C>T	c.(544-546)tcC>tcT	p.S182S		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	182	Protein kinase.				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)		ACCTGCGCTCCGGAGAGCTCA	0.652000													31	49					0	0	0.010818	0	0
TDRKH	11022	broad.mit.edu	37	1	151752454	151752454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:151752454G>A	ENST00000368822.1	-	4	1027	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	TDRKH_ENST00000440583.2_Intron|TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000458431.2_Missense_Mutation_p.P132S|TDRKH_ENST00000368823.1_Missense_Mutation_p.P128S|TDRKH_ENST00000368824.3_Missense_Mutation_p.P132S|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368827.6_Missense_Mutation_p.P132S			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	132	KH 2.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GATCTCTGGGGAACTGAAAGC	0.488000													57	96					0	0	0.014410	0	0
DOCK7	85440	broad.mit.edu	37	1	63021546	63021546	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:63021546A>G	ENST00000251157.5	-	21	2579	c.2546T>C	c.(2545-2547)aTt>aCt	p.I849T	DOCK7_ENST00000340370.5_Missense_Mutation_p.I849T	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	849					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AACATAATGAATATATGATGC	0.343000													41	87					0	0	0.007835	0	0
OR10G3	26533	broad.mit.edu	37	14	22038433	22038433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22038433C>T	ENST00000303532.1	-	1	442	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CATCCAGGCTCCAGCCACAAG	0.572000													36	77					0	0	0.004289	0	0
MXRA5	25878	broad.mit.edu	37	X	3239853	3239853	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:3239853A>C	ENST00000217939.6	-	5	4027	c.3873T>G	c.(3871-3873)gaT>gaG	p.D1291E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1291						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AATCTAAGGAATCATAAGGGC	0.378000													83	131					0	0	0.014410	0	0
ZNF728	388523	broad.mit.edu	37	19	23159380	23159380	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:23159380C>T	ENST00000594710.1	-	4	904	c.759G>A	c.(757-759)gaG>gaA	p.E253E		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TGTAATGTTTCTCTCCAGTAT	0.403000													9	45					0	0	0.004482	0	0
PARP10	84875	broad.mit.edu	37	8	145059155	145059155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145059155G>A	ENST00000313028.7	-	5	1109	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S	PARP10_ENST00000524918.1_Missense_Mutation_p.P339S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P351S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	339						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACCCCATGGGACCTGTCCTC	0.612000													46	156					0	0	0.014410	0	0
CDH23	64072	broad.mit.edu	37	10	73485149	73485149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:73485149C>T	ENST00000224721.6	+	29	3471	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1151	Cadherin 11.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACAACTTCCGGATCCATGT	0.637000													30	54					0	0	0.013726	0	0
CFTR	1080	broad.mit.edu	37	7	117232711	117232711	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:117232711G>A	ENST00000003084.6	+	14	2622	c.2490_splice	c.e14+1	p.K830_splice	CFTR_ENST00000454343.1_Splice_Site_p.K769_splice	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	830					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)	AAGACTTAAAGGTAGGTATAC	0.363000									Cystic Fibrosis				25	72					0	0	0.006320	0	0
GRID1	2894	broad.mit.edu	37	10	87966247	87966247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:87966247G>A	ENST00000327946.7	-	3	479	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	132						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCGGGGCTGGGGTTCAGGTGG	0.632000										Multiple Myeloma(13;0.14)			38	56					0	0	0.010771	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502889	140502889	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140502889A>C	ENST00000194152.1	+	1	1309	c.1309A>C	c.(1309-1311)Acc>Ccc	p.T437P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		437	Cadherin 4.				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)			GCAGAACATAACCGTGCAGGT	0.592000													80	123					0	0	0.014410	0	0
BRINP2	57795	broad.mit.edu	37	1	177249596	177249596	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177249596G>A	ENST00000361539.4	+	8	1596	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		428						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCTACTGTGGGGAAAGCACCT	0.542000													81	100					0	0	0.014410	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223110	99223110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:99223110G>A	ENST00000547776.2	-	19	2907	c.2908C>T	c.(2908-2910)Cct>Tct	p.P970S	ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P970S|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P196S|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P196S|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000341752.7_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	970						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AACTGAGGAGGAGTGTGATTA	0.443000													20	81					0	0	0.010504	0	0
OR4K5	79317	broad.mit.edu	37	14	20388940	20388940	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20388940A>T	ENST00000315915.4	+	1	200	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCACTCCCCTATGTACTTTCT	0.408000													37	203					0	0	0.003271	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42302335	42302335	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42302335C>T	ENST00000413860.2	-	1	110	c.111G>A	c.(109-111)ggG>ggA	p.G37G	PLA2G4E_ENST00000399518.3_Intron			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	0	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CACTGGCCCCCCCACCCCGGG	0.592000													44	90					0	0	0.011902	0	0
COL6A2	1292	broad.mit.edu	37	21	47531470	47531470	+	Missense_Mutation	SNP	C	C	T	rs150057026		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47531470C>T	ENST00000300527.4	+	2	184	c.80C>T	c.(79-81)tCg>tTg	p.S27L	COL6A2_ENST00000397763.1_Missense_Mutation_p.S27L|COL6A2_ENST00000310645.5_Missense_Mutation_p.S27L|COL6A2_ENST00000409416.1_Missense_Mutation_p.S27L|COL6A2_ENST00000357838.4_Missense_Mutation_p.S27L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	27	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGGTCATCTCGCCGGACACT	0.667000													39	91					0	0	0.013114	0	0
COL25A1	84570	broad.mit.edu	37	4	109780827	109780827	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:109780827G>A	ENST00000399132.1	-	24	1835	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	COL25A1_ENST00000399126.1_Silent_p.L435L|COL25A1_ENST00000399127.1_Silent_p.L416L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	435						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGGCTTCGTGGAGGTTGCCGT	0.488000													11	22					0	0	0.008291	0	0
HYDIN	54768	broad.mit.edu	37	16	71220705	71220705	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:71220705G>A	ENST00000393567.2	-	2	244	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	HYDIN_ENST00000538248.1_Silent_p.L59L|HYDIN_ENST00000541601.1_Silent_p.L49L|HYDIN_ENST00000321489.5_Silent_p.L32L|HYDIN_ENST00000288168.10_Silent_p.L49L|HYDIN_ENST00000393550.2_Silent_p.L32L|HYDIN_ENST00000448691.1_Silent_p.L32L|HYDIN_ENST00000448089.2_Silent_p.L32L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	32										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGGACTCAGGGGTGGCAAA	0.398000													11	39					0	0	0.013537	0	0
ABCB6	10058	broad.mit.edu	37	2	220081123	220081123	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220081123G>A	ENST00000265316.3	-	4	1249	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ABCB6_ENST00000439002.2_Silent_p.F265F	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	311	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAACTTGAGGAAGACGTAAC	0.562000													26	78					0	0	0.008361	0	0
OR13J1	392309	broad.mit.edu	37	9	35869520	35869520	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35869520C>T	ENST00000377981.2	-	1	941	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCCTTGTTCCTCAGGCTGT	0.592000													33	79					0	0	0.013726	0	0
KRT5	3852	broad.mit.edu	37	12	52911738	52911738	+	Silent	SNP	C	C	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52911738C>T	ENST00000252242.4	-	4	1260	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	290	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACCTTGGCCTCCAGCTCCA	0.458000													68	197					0	0	0.014410	0	0
EYA2	2139	broad.mit.edu	37	20	45717957	45717957	+	Silent	SNP	G	G	A	rs143429707	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:45717957G>A	ENST00000327619.5	+	8	1115	c.741G>A	c.(739-741)ggG>ggA	p.G247G	EYA2_ENST00000317304.6_Silent_p.G247G|EYA2_ENST00000357410.3_Silent_p.G247G	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	247					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCTCCGACGGGAAGCTCCGAG	0.577000													57	125					0	0	0.014410	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346565	92346565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:92346565G>A	ENST00000276609.3	+	6	924	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	SLC26A7_ENST00000523719.1_Missense_Mutation_p.E229K|SLC26A7_ENST00000309536.2_Missense_Mutation_p.E229K	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	229						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGTGCGACTGGAAGCATTGCT	0.333000													17	38					0	0	0.004990	0	0
ZNF239	8187	broad.mit.edu	37	10	44052351	44052351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:44052351G>A	ENST00000306006.6	-	2	1829	c.1177C>T	c.(1177-1179)Cat>Tat	p.H393Y	ZNF239_ENST00000426961.1_Missense_Mutation_p.H393Y|ZNF239_ENST00000374446.2_Missense_Mutation_p.H393Y|ZNF239_ENST00000535642.1_Missense_Mutation_p.H393Y	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTCTGAGATGGATGCGAAGA	0.517000													28	37					0	0	0.012213	0	0
DMBT1	1755	broad.mit.edu	37	10	124358388	124358388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:124358388G>A	ENST00000338354.3	+	26	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1019N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1019	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1019N(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602000													246	364					0	0	0.014410	0	0
CIT	11113	broad.mit.edu	37	12	120288023	120288023	+	Silent	SNP	G	G	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:120288023G>A	ENST00000392521.2	-	5	526	c.471C>T	c.(469-471)atC>atT	p.I157I	CIT_ENST00000261833.7_Silent_p.I157I	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	157	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTAATTGGGGGATCCACGGGC	0.408000													116	355					0	0	0.014410	0	0
PXDN	7837	broad.mit.edu	37	2	1651987	1651991	+	Frame_Shift_Del	DEL	TCAGG	TCAGG	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:1651987_1651991delTCAGG	ENST00000252804.4	-	17	3611_3615	c.3561_3565delCCTGA	c.(3559-3567)gaaafs	p.DLK1187fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1187					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCTCATTTTTCAGGTCCTCGAACG	0.561													21	394	---	---	---	---					
WDR35	57539	broad.mit.edu	37	2	20178521	20178521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:20178521delA	ENST00000345530.3	-	5	542	c.427delT	c.(427-429)cafs	p.S143fs	WDR35_ENST00000281405.4_Frame_Shift_Del_p.S143fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	143										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCACTGAACCAACTATC	0.373													22	179	---	---	---	---					
HEATR5B	54497	broad.mit.edu	37	2	37235932	37235932	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:37235932delA	ENST00000233099.5	-	28	4439	c.4344delT	c.(4342-4344)atfs	p.I1448fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.I1448fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1448							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAGTATTTTTAATTGCTCTTT	0.363													90	205	---	---	---	---					
ENPP1	5167	broad.mit.edu	37	6	132204842	132204843	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:132204842_132204843delAA	ENST00000360971.2	+	22	2259_2260	c.2239_2240delAA	c.(2239-2241)afs	p.K747fs		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	747	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGAACTAAATAAAAATTCAAGT	0.277													33	59	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98551016	98551016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:98551016delT	ENST00000359863.4	+	39	5878	c.5669delT	c.(5668-5670)atfs	p.I1891fs	TRRAP_ENST00000355540.3_Frame_Shift_Del_p.I1873fs|TRRAP_ENST00000446306.3_Frame_Shift_Del_p.I1872fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1891					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGCGCACATTATCGCCAAA	0.587													44	93	---	---	---	---					
LONRF1	91694	broad.mit.edu	37	8	12598449	12598449	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:12598449delT	ENST00000398246.3	-	3	966	c.897delA	c.(895-897)ttfs	p.L299fs	LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	299					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GAAAGAGTTGTAAGGCATCAC	0.368													37	149	---	---	---	---					
NRG3	10718	broad.mit.edu	37	10	83635829	83635829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:83635829delT	ENST00000404547.1	+	1	733	c.733delT	c.(733-735)ctfs	p.S245fs	NRG3_ENST00000372141.2_Frame_Shift_Del_p.S245fs			P56975	NRG3_HUMAN	neuregulin 3	245	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGGACCCTGTCTCCCTTTCA	0.557													22	18	---	---	---	---					
SLC4A8	9498	broad.mit.edu	37	12	51851189	51851189	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:51851189delT	ENST00000453097.2	+	6	846	c.629delT	c.(628-630)gtfs	p.V210fs	SLC4A8_ENST00000535225.2_Frame_Shift_Del_p.V157fs|SLC4A8_ENST00000514353.3_Frame_Shift_Del_p.V157fs|SLC4A8_ENST00000358657.3_Frame_Shift_Del_p.V237fs|SLC4A8_ENST00000394856.1_Frame_Shift_Del_p.V157fs	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	210					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCATGAGGGTTAAAGTGCGG	0.463													31	76	---	---	---	---					
DHX37	57647	broad.mit.edu	37	12	125441343	125441343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:125441343delG	ENST00000308736.2	-	18	2445	c.2347delC	c.(2347-2349)gcfs	p.R783fs	DHX37_ENST00000544745.1_Frame_Shift_Del_p.R570fs	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	783							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTAGCGTAGCGGGGTGCCACG	0.632													60	222	---	---	---	---					
CPSF2	53981	broad.mit.edu	37	14	92625548	92625549	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:92625548_92625549delTC	ENST00000298875.4	+	14	2328_2329	c.2043_2044delTC	c.(2041-2046)agtgfs	p.SL681fs		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	681					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CCATGAAAAGTCTGTTCGGAGA	0.411													21	84	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aafs	p.K11fs	FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					7	335	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9073231	9073232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9073231_9073232insA	ENST00000397910.4	-	3	14417_14418	c.14214_14215insT	c.(14212-14217)ttaggafs	p.LG4738fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4740	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						GCTTCATCCTGAAAGGGAGGGT	0.505													46	106	---	---	---	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)ggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													7	291	---	---	---	---					
PLXNB2	23654	broad.mit.edu	37	22	50718203	50718223	+	Splice_Site	DEL	GTCCTGGAGTAACACGGAGGG	GTCCTGGAGTAACACGGAGGG	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:50718203_50718223delGTCCTGGAGTAACACGGAGGG	ENST00000449103.1	-	27	4383_4385	c.4242_splice	c.e27-1	p.1415_splice	PLXNB2_ENST00000359337.4_Splice_Site_p.1415_splice			O15031	PLXB2_HUMAN	plexin B2	1415					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCGGCACTGTCCTGGAGTAACACGGAGGGGAGGCTGGGA	0.629													69	364	---	---	---	---					
HDHD1	8226	broad.mit.edu	37	X	7066113	7066114	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:7066113_7066114insA	ENST00000381077.5	-	1	117_118	c.41_42insT	c.(40-42)gatfs	p.D14fs	HDHD1_ENST00000540122.1_Frame_Shift_Ins_p.D14fs|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Frame_Shift_Ins_p.D14fs|HDHD1_ENST00000424830.2_Frame_Shift_Ins_p.D14fs	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	14					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						GTCCGTCCATGTCAAAGATGAG	0.713													2	4	---	---	---	---					
