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
RSPH1	89765	broad.mit.edu	37	21	43913099	43913099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:43913099C>T	ENST00000291536.3	-	2	312	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	49					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TTACCGAATTCGTAGCTCCCT	0.502000													59	82					0	0	0.003610	0	0
UBBP4	23666	broad.mit.edu	37	17	21730972	21730972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:21730972G>A	ENST00000584755.1	+	2	671	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.E92K																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CATCACCCTGGAAGTGGAGCC	0.547000													19	17					0	0	0.003954	0	0
SPACA7	122258	broad.mit.edu	37	13	113030784	113030784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:113030784G>A	ENST00000283550.3	+	1	152	c.85G>A	c.(85-87)Gtg>Atg	p.V29M		NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	29						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GCCGAGAACCGTGATTCCAGG	0.592000													9	9					0	0	0.006214	0	0
TCF20	6942	broad.mit.edu	37	22	42606385	42606385	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:42606385G>T	ENST00000359486.3	-	1	5063	c.4927C>A	c.(4927-4929)Ctt>Att	p.L1643I	TCF20_ENST00000335626.4_Missense_Mutation_p.L1643I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACGGCTCCAAGTTCACACTTA	0.448000													42	79					1.0096e-33	1.49738e-33	0.003610	1	0
KIAA0907	22889	broad.mit.edu	37	1	155885655	155885655	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:155885655C>G	ENST00000368320.3	-	13	1679	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H	KIAA0907_ENST00000368321.3_Intron			Q7Z7F0	K0907_HUMAN	KIAA0907	0										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CCAGCTATATCACACTCACCA	0.527000													103	253					0	0	0.003610	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806693	6806693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:6806693G>A	ENST00000307401.4	+	1	446	c.425G>A	c.(424-426)tGg>tAg	p.W142*		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGAGCCTGCTGGCTCATGGTG	0.542000													28	27					0	0	0.008361	0	0
MIR557	693142	broad.mit.edu	37	1	168344763	168344763	+	RNA	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:168344763G>A	ENST00000385239.1	+	0	2					NR_030284.1																						TGTGCAGACAGAATGGGCAAA	0.547000													240	8					0	0	0.003610	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17139151	17139151	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:17139151G>A	ENST00000265970.7	-	18	3102	c.3103C>T	c.(3103-3105)Ctg>Ttg	p.L1035L	PIK3C2A_ENST00000540361.1_Silent_p.L655L|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1035					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CCTACTGACAGGAGAGCACCC	0.418000													22	31					0	0	0.001882	0	0
DNAH3	55567	broad.mit.edu	37	16	20975188	20975188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:20975188C>T	ENST00000261383.3	-	53	10017	c.10018G>A	c.(10018-10020)Gag>Aag	p.E3340K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3340					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)		TTCAGTTCCTCGCTCTTCGTG	0.478000													38	63					0	0	0.007835	0	0
POLD3	10714	broad.mit.edu	37	11	74340342	74340342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:74340342C>T	ENST00000263681.2	+	9	1109	c.980C>T	c.(979-981)cCt>cTt	p.P327L	POLD3_ENST00000532497.1_Missense_Mutation_p.P221L|POLD3_ENST00000527458.1_Missense_Mutation_p.P288L	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	327					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ATCAAACTTCCTGAATCTGAT	0.388000													17	31					0	0	0.004990	0	0
HBD	3045	broad.mit.edu	37	11	5255394	5255394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:5255394C>T	ENST00000380299.3	-	2	356	c.142G>A	c.(142-144)Gat>Aat	p.D48N	HBD_ENST00000292901.3_Missense_Mutation_p.D48N	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	48			D -> V (in Parkville; dbSNP:rs34977235).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGACAGATCCCCAAAGGAC	0.522000													26	34					0	0	0.007291	0	0
SNORD114-29	767610	broad.mit.edu	37	14	101456430	101456430	+	RNA	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:101456430G>A	ENST00000364819.1	+	0	3					NR_003222.1																						GCCAATCCTGGATCGATGATG	0.343000													13	34					0	0	0.003163	0	0
TSPEAR	54084	broad.mit.edu	37	21	45953807	45953807	+	Splice_Site	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:45953807C>T	ENST00000323084.4	-	3	369		c.e3-1		TSPEAR_ENST00000397916.1_Splice_Site	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats						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						ACTCGTTCCTCTGTGGAGAGC	0.667000													16	7					0	0	0.004007	0	0
GGA3	23163	broad.mit.edu	37	17	73238437	73238437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:73238437C>T	ENST00000245541.6	-	8	943	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	GGA3_ENST00000582717.1_Missense_Mutation_p.G171R|GGA3_ENST00000582486.1_Missense_Mutation_p.G171R|GGA3_ENST00000351904.7_Missense_Mutation_p.G210R|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000578348.1_Missense_Mutation_p.G121R|GGA3_ENST00000538886.1_Missense_Mutation_p.G121R	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	243	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCTCTGTCCCCGTCCGAAGAG	0.587000													126	91					0	0	0.003610	0	0
IQUB	154865	broad.mit.edu	37	7	123152121	123152121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:123152121G>A	ENST00000466202.1	-	2	850	c.274C>T	c.(274-276)Ccg>Tcg	p.P92S	IQUB_ENST00000324698.6_Missense_Mutation_p.P92S|IQUB_ENST00000434450.1_Missense_Mutation_p.P92S|IQUB_ENST00000488987.1_Intron			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	92										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGATGTTGCGGAGTATATGAA	0.388000													42	51					0	0	0.003214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525945	176525945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:176525945C>T	ENST00000367662.3	+	2	1651	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.Q163*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	163					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						GGCCGGGATTCAGAAAGGCTC	0.547000													67	8					0	0	0.003610	0	0
ALAS1	211	broad.mit.edu	37	3	52238818	52238818	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:52238818C>T	ENST00000394965.2	+	6	1047	c.687C>T	c.(685-687)ttC>ttT	p.F229F	ALAS1_ENST00000310271.2_Silent_p.F229F|ALAS1_ENST00000484952.1_Silent_p.F229F|ALAS1_ENST00000469224.1_Silent_p.F229F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	229					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CACACATCTTCCCCATGGCAG	0.438000													31	25					0	0	0.008361	0	0
PCDH20	64881	broad.mit.edu	37	13	61986466	61986466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:61986466C>T	ENST00000409186.1	-	5	3871	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	PCDH20_ENST00000409204.4_Missense_Mutation_p.G589E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	562	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTCAGAATTCCTGTGACACT	0.458000													23	38					0	0	0.002780	0	0
AADAC	13	broad.mit.edu	37	3	151535168	151535168	+	Silent	SNP	G	G	A	rs139594209		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:151535168G>A	ENST00000232892.6	+	2	279	c.153G>A	c.(151-153)gaG>gaA	p.E51E	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Silent_p.E51E|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	51					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)			CATTTGTGGAGCTCCTGGGAC	0.398000													19	13					0	0	0.001523	0	0
HDAC11	79885	broad.mit.edu	37	3	13538321	13538321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:13538321C>T	ENST00000295757.3	+	4	521	c.338C>T	c.(337-339)cCc>cTc	p.P113L	HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.P85L|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.P85L|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000522202.1_Missense_Mutation_p.P62L	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	113	Histone deacetylase.			P -> A (in Ref. 3).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GTGCTGAGGCCCCTTCGGACC	0.597000											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	25					0	0	0.004007	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134488128	134488128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:134488128G>A	ENST00000319914.5	-	4	1167	c.140C>T	c.(139-141)tCc>tTc	p.S47F	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S47F|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S47F|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S47F			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	47					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CAGGTTCTCGGAGAGCTCCAG	0.577000													16	26					0	0	0.003163	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348017	38348017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:38348017G>A	ENST00000273173.4	+	1	591	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R167Q	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	167						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)		GCTAAGAAGCGATCGCTGATC	0.502000													33	37					0	0	0.004289	0	0
ESYT3	83850	broad.mit.edu	37	3	138181033	138181033	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:138181033C>T	ENST00000389567.4	+	8	1086	c.900C>T	c.(898-900)cgC>cgT	p.R300R	ESYT3_ENST00000289135.4_Silent_p.R300R	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	300	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CCAACCTGCGCTTCCCTCTGC	0.577000													87	115					0	0	0.003610	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873499	37873499	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:37873499A>G	ENST00000295324.3	-	2	1232	c.232T>C	c.(232-234)Ttc>Ctc	p.F78L	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	78					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TGCCCAGGGAACTGGCCCAGG	0.537000													52	49					0	0	0.003610	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965004	119965004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:119965004G>A	ENST00000543831.1	+	4	1129	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	HSD3B2_ENST00000369416.3_Missense_Mutation_p.G294S	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	294			G -> V (in AH2; nonsalt-wasting form; activity abolished).		androgen 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			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GTACTGGATTGGCTTCCTGCT	0.463000													86	31					0	0	0.003610	0	0
SLC14A2	8170	broad.mit.edu	37	18	43246155	43246155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:43246155C>T	ENST00000255226.6	+	12	2344	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	SLC14A2_ENST00000589658.1_5'UTR|SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.R510*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	510			R -> Q (in dbSNP:rs9960464).			apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTTCCCTATCGATACCGGAA	0.512000											OREG0024946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	52					0	0	0.004878	0	0
AKT2	208	broad.mit.edu	37	19	40747936	40747936	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:40747936C>A	ENST00000392038.2	-	6	780	c.482G>T	c.(481-483)gGa>gTa	p.G161V	AKT2_ENST00000311278.6_Missense_Mutation_p.G161V|AKT2_ENST00000579047.1_Missense_Mutation_p.G99V|AKT2_ENST00000424901.1_Missense_Mutation_p.G161V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	161	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCCAAAGGTTCCCTTGCCAAG	0.582000			A		"""ovarian, pancreatic """								64	94					1.55545e-33	2.29835e-33	0.003610	1	0
AQR	9716	broad.mit.edu	37	15	35192830	35192830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr15:35192830G>A	ENST00000156471.5	-	20	2461	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	746						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACCTGAAAGGGGGTATTTGT	0.408000													19	29					0	0	0.002299	0	0
HYDIN	54768	broad.mit.edu	37	16	70954578	70954578	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:70954578G>A	ENST00000393567.2	-	46	7851	c.7701C>T	c.(7699-7701)ccC>ccT	p.P2567P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2567										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)				TGTCTAGGAAGGGTACGCCCA	0.607000													4	2					0	0	0.000602	0	0
ORC4	5000	broad.mit.edu	37	2	148695749	148695749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:148695749G>A	ENST00000535373.1	-	14	1520	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	ORC4_ENST00000542387.1_Missense_Mutation_p.S146F|ORC4_ENST00000392858.1_Missense_Mutation_p.S363F|ORC4_ENST00000392857.4_Missense_Mutation_p.S363F|ORC4_ENST00000540442.1_Missense_Mutation_p.S289F|ORC4_ENST00000536575.1_Missense_Mutation_p.S279F|ORC4_ENST00000264169.2_Missense_Mutation_p.S363F|ORC4_ENST00000488761.1_5'UTR	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	363					cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						ATTATAAACGGAATGTGCTTT	0.318000													10	14					0	0	0.006214	0	0
BLK	640	broad.mit.edu	37	8	11400814	11400814	+	Silent	SNP	G	G	A	rs149279535	byFrequency	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:11400814G>A	ENST00000259089.4	+	2	673	c.81G>A	c.(79-81)aaG>aaA	p.K27K	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	27					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCCCCCTGAAGGTCAGCGCCC	0.567000													9	11					0	0	0.008291	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647758	51647758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:51647758G>A	ENST00000317643.6	+	2	598	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	177	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGTGAGCAGGGGACGCCCCC	0.642000													35	64					0	0	0.007835	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756518	56756518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:56756518G>A	ENST00000326855.2	+	1	172	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	44					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						GGGTAATAGTGGAATAATCTT	0.368000													21	47					0	0	0.008871	0	0
GPR45	11250	broad.mit.edu	37	2	105858805	105858805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:105858805G>A	ENST00000258456.1	+	1	606	c.490G>A	c.(490-492)Ggg>Agg	p.G164R		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	164						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTGCATCGCGGGGCCCTCGCT	0.697000													8	12					0	0	0.006214	0	0
CPZ	8532	broad.mit.edu	37	4	8602950	8602950	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:8602950G>A	ENST00000360986.4	+	3	396	c.222G>A	c.(220-222)gaG>gaA	p.E74E	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Silent_p.E63E	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	74	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGTGGTGGAGGCCAGCTCCG	0.652000													15	19					0	0	0.006122	0	0
PPIB	5479	broad.mit.edu	37	15	64449083	64449083	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr15:64449083G>T	ENST00000300026.3	-	4	587	c.369C>A	c.(367-369)ttC>ttA	p.F123L	PPIB_ENST00000558492.1_5'UTR|SNX22_ENST00000325881.4_3'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	123	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	TCTCATCGGGGAAGCGCTCAC	0.572000													14	25					1.3612e-06	1.98906e-06	0.003163	1	0
MARCO	8685	broad.mit.edu	37	2	119750702	119750702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:119750702G>A	ENST00000541757.1	+	17	1401	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	MARCO_ENST00000327097.4_Missense_Mutation_p.E419K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	419	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCACCCAGGTGAAAACTCAGT	0.517000													40	33					0	0	0.002522	0	0
FGF7	2252	broad.mit.edu	37	15	49776684	49776684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr15:49776684C>T	ENST00000267843.4	+	4	1179	c.568C>T	c.(568-570)Cct>Tct	p.P190S	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	190					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	CCACTTTCTTCCTATGGCAAT	0.363000													6	5					0	0	0.001168	0	0
UGT2B17	7367	broad.mit.edu	37	4	69417557	69417557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:69417557G>A	ENST00000317746.2	-	4	1120	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	360					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AGGTCATTCTGGGGTAACCAC	0.343000													32	62					0	0	0.004878	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			88	10					3.11363e-52	4.63533e-52	0.003610	1	0
SCN7A	6332	broad.mit.edu	37	2	167322436	167322436	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:167322436G>A	ENST00000409855.1	-	7	852	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	242					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAGAGTTAGGATAATGACAC	0.388000													13	14					0	0	0.001368	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481402	140481402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:140481402C>T	ENST00000231130.2	+	1	1169	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		390	Cadherin 4.				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)			AACAATCTCCCCTTCTTCCTG	0.468000													15	6					0	0	0.004990	0	0
HRH1	3269	broad.mit.edu	37	3	11300800	11300800	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:11300800A>G	ENST00000397056.1	+	3	268	c.77A>G	c.(76-78)cAg>cGg	p.Q26R	HRH1_ENST00000438284.2_Missense_Mutation_p.Q26R|HRH1_ENST00000431010.2_Missense_Mutation_p.Q26R	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	26					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)	GCCAGCCCCCAGCTGATGCCC	0.577000													20	26					0	0	0.001523	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688731	26688731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:26688731C>T	ENST00000529632.2	+	2	650	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.Q152*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.Q152*|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.Q152*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.Q152*	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	152						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						GCCAGCGTCCCAGGGCCTAGA	0.662000													13	13					0	0	0.001855	0	0
GGA3	23163	broad.mit.edu	37	17	73238436	73238436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:73238436C>T	ENST00000245541.6	-	8	944	c.728G>A	c.(727-729)gGg>gAg	p.G243E	GGA3_ENST00000582717.1_Missense_Mutation_p.G171E|GGA3_ENST00000582486.1_Missense_Mutation_p.G171E|GGA3_ENST00000351904.7_Missense_Mutation_p.G210E|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000578348.1_Missense_Mutation_p.G121E|GGA3_ENST00000538886.1_Missense_Mutation_p.G121E	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	243	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CTCTCTGTCCCCGTCCGAAGA	0.587000													123	92					0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317935	30317935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:30317935C>T	ENST00000375377.1	-	3	1243	c.1142G>A	c.(1141-1143)gGg>gAg	p.G381E		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	381	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCGCTGGCCCCAGCCTTCTC	0.632000													45	6					0	0	0.003610	0	0
LRIT2	340745	broad.mit.edu	37	10	85982013	85982013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:85982013G>A	ENST00000372113.4	-	3	1321	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	LRIT2_ENST00000538192.1_Missense_Mutation_p.P449L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	439	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CTGGTGTGGAGGCTGGCCCTC	0.557000													36	9					0	0	0.003610	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			69	15					0	0	0.003610	0	0
CACNA1A	773	broad.mit.edu	37	19	13419008	13419008	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:13419008G>A	ENST00000360228.5	-	14	1838	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	CACNA1A_ENST00000573710.2_Silent_p.I614I	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	614					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)	ACAGGCTGATGATGGACTTCA	0.547000													13	16					0	0	0.003163	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865097	47865097	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:47865097C>T	ENST00000396105.1	-	14	4710	c.4464G>A	c.(4462-4464)cgG>cgA	p.R1488R	ZNFX1_ENST00000371752.1_Silent_p.R1488R|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1488							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGACAGGTCCGCTGGCAGG	0.597000													18	21					0	0	0.007413	0	0
NRK	203447	broad.mit.edu	37	X	105193601	105193601	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:105193601T>A	ENST00000428173.2	+	27	4694	c.4391T>A	c.(4390-4392)aTt>aAt	p.I1464N	NRK_ENST00000540278.1_Missense_Mutation_p.I44N|NRK_ENST00000243300.9_Missense_Mutation_p.I1463N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1463	CNH.						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						AATATCATCATTTTACCTGAT	0.368000										HNSCC(51;0.14)			32	6					0	0	0.005524	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19704416	19704416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:19704416G>A	ENST00000284885.3	-	14	1672	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	547	CUB 2.				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						GCCAGATTAGGGTAGCTGTTT	0.418000													27	38					0	0	0.001786	0	0
CLASP2	23122	broad.mit.edu	37	3	33558658	33558658	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:33558658G>A	ENST00000399362.4	-	35	4170	c.3817C>T	c.(3817-3819)Cta>Tta	p.L1273L	CLASP2_ENST00000539981.1_Silent_p.L1043L|CLASP2_ENST00000461133.3_Silent_p.L1033L|CLASP2_ENST00000480013.1_Silent_p.L1053L|CLASP2_ENST00000307312.7_Silent_p.L755L|CLASP2_ENST00000468888.2_Silent_p.L1274L|CLASP2_ENST00000359576.5_Silent_p.L1265L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1275										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GAATGATCTAGGGAAAGATCT	0.363000													20	24					0	0	0.008871	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647759	51647759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:51647759G>A	ENST00000317643.6	+	2	599	c.530G>A	c.(529-531)gGg>gAg	p.G177E	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	177	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TGTGAGCAGGGGACGCCCCCT	0.647000													34	65					0	0	0.006230	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765902	18765902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:18765902G>A	ENST00000304081.4	-	4	701	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	NT5C1B_ENST00000359846.2_Missense_Mutation_p.R261C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R261C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R261C	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGAGAGTTGCGGTCCAGCTGG	0.652000													12	8					0	0	0.001368	0	0
MISP	126353	broad.mit.edu	37	19	757292	757292	+	Missense_Mutation	SNP	G	G	A	rs45591331		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:757292G>A	ENST00000215582.6	+	2	449	c.346G>A	c.(346-348)Ggg>Agg	p.G116R		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CCCAGAGGACGGGGAGGACAA	0.667000													20	24					0	0	0.008871	0	0
PILRB	29990	broad.mit.edu	37	7	99955901	99955901	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:99955901C>T	ENST00000448382.1	+	6	1459	c.342C>T	c.(340-342)ccC>ccT	p.P114P	PILRB_ENST00000444073.1_5'UTR|PILRB_ENST00000452089.1_5'UTR|PILRB_ENST00000310771.4_5'UTR|PILRB_ENST00000444874.1_5'UTR			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGGTCTCCCCGTCCCCTGG	0.682000													37	6					0	0	0.008740	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217340128	217340128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:217340128C>T	ENST00000357276.4	+	15	2711	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S794F	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	794	Helicase C-terminal.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTCACCTTCTCCTCGGCTGAC	0.592000									Schimke Immuno-Osseous Dysplasia				37	41					0	0	0.002222	0	0
DPRX	503834	broad.mit.edu	37	19	54137921	54137921	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:54137921A>G	ENST00000376650.1	+	2	216	c.165A>G	c.(163-165)atA>atG	p.I55M		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	55						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)		AAATAGACATACACCCAACAG	0.428000													29	26					0	0	0.002445	0	0
C17orf77	146723	broad.mit.edu	37	17	72588331	72588331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:72588331G>A	ENST00000392620.1	+	3	508	c.146G>A	c.(145-147)gGa>gAa	p.G49E	C17orf77_ENST00000328023.2_Missense_Mutation_p.G49E|CD300LD_ENST00000375352.1_Missense_Mutation_p.S4F	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	49						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CAGAGATGGGGACAGCCACAT	0.562000													39	25					0	0	0.004878	0	0
RTN2	6253	broad.mit.edu	37	19	45996532	45996532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:45996532G>A	ENST00000590526.1	-	5	1223	c.97C>T	c.(97-99)Caa>Taa	p.Q33*	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000245923.4_Nonsense_Mutation_p.Q307*|RTN2_ENST00000344680.4_Intron			O75298	RTN2_HUMAN	reticulon 2	307						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGGCCCCTTTGGACCCAGCCA	0.552000													35	41					0	0	0.005524	0	0
IRS1	3667	broad.mit.edu	37	2	227662451	227662451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:227662451G>A	ENST00000305123.4	-	1	2024	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	335	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCGGGACATGGTGCCTTCGCC	0.716000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	50					0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173805	207173805	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:207173805A>T	ENST00000374423.3	+	5	4939	c.4553A>T	c.(4552-4554)aAa>aTa	p.K1518I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1518							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						GGATCAGTCAAAGAAACCCAC	0.398000													12	25					0	0	0.003163	0	0
DSG1	1828	broad.mit.edu	37	18	28923439	28923439	+	Missense_Mutation	SNP	G	G	A	rs137983671	byFrequency	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:28923439G>A	ENST00000257192.4	+	12	1926	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	572					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GATCTGTTGTGATTGTGGAGG	0.448000													54	50					0	0	0.003610	0	0
RTCB	51493	broad.mit.edu	37	22	32797884	32797884	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:32797884A>G	ENST00000216038.5	-	5	445	c.347T>C	c.(346-348)gTc>gCc	p.V116A	RTCB_ENST00000451746.2_Missense_Mutation_p.V116A|RTCB_ENST00000476619.1_5'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		GTCAAACCCGACACCACCTAC	0.433000													16	15					0	0	0.004007	0	0
MST1R	4486	broad.mit.edu	37	3	49928866	49928866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:49928866C>T	ENST00000296474.3	-	16	3527	c.3500G>A	c.(3499-3501)gGt>gAt	p.G1167D	MST1R_ENST00000344206.4_Missense_Mutation_p.G1118D	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1167	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAGCAGGTCACCGTGGCACAT	0.607000													18	28					0	0	0.004990	0	0
MYH6	4624	broad.mit.edu	37	14	23855163	23855163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:23855163C>T	ENST00000405093.3	-	34	5207	c.5137G>A	c.(5137-5139)Gag>Aag	p.E1713K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1713K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1713					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)		TGCACCCGCTCGCTGGTCTCA	0.612000													19	22					0	0	0.001523	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:57828183G>A	ENST00000371030.2	+	4	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1393						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)					ATGGACAAACGAACTGTGAAG	0.468000													46	63					0	0	0.003610	0	0
IL1F10	84639	broad.mit.edu	37	2	113832866	113832866	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:113832866C>T	ENST00000393197.2	+	4	805	c.384C>T	c.(382-384)ccC>ccT	p.P128P	IL1F10_ENST00000341010.2_Silent_p.P128P|IL1F10_ENST00000337569.3_Silent_p.P128P	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	128						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CGGCAGAGCCCCAGCAGCCAG	0.597000													28	49					0	0	0.007291	0	0
NBR1	4077	broad.mit.edu	37	17	41343555	41343555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:41343555C>T	ENST00000422280.1	+	10	1489	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	NBR1_ENST00000389312.4_Missense_Mutation_p.P344S|NBR1_ENST00000542611.1_Missense_Mutation_p.P323S|NBR1_ENST00000341165.6_Missense_Mutation_p.P344S|NBR1_ENST00000589872.1_Missense_Mutation_p.P344S|NBR1_ENST00000590996.1_Missense_Mutation_p.P344S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	344					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCCCAAGTCTCCTTTAGGCCG	0.488000													4	17					0	0	0.000602	0	0
NPHS1	4868	broad.mit.edu	37	19	36322264	36322264	+	Silent	SNP	C	C	T	rs115670171	by1000genomes	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:36322264C>T	ENST00000378910.5	-	26	3320	c.3321G>A	c.(3319-3321)gaG>gaA	p.E1107E	NPHS1_ENST00000353632.6_Silent_p.E1067E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1107					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.E1107D(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			TGACTCGGTCCTCTTCCGACC	0.587000													40	51					0	0	0.006230	0	0
CAND2	23066	broad.mit.edu	37	3	12859143	12859143	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:12859143C>T	ENST00000456430.2	+	10	2753	c.2712C>T	c.(2710-2712)atC>atT	p.I904I	CAND2_ENST00000295989.5_Silent_p.I811I	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	904					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGCAGATCGAGGCTGAGC	0.667000													36	38					0	0	0.004878	0	0
ATF6B	1388	broad.mit.edu	37	6	32087646	32087646	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:32087646G>A	ENST00000375201.4	-	9	957	c.912C>T	c.(910-912)atC>atT	p.I304I	ATF6B_ENST00000375203.3_Silent_p.I307I			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	307					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GAGCGGGAACGATGCTCTTCC	0.592000													96	211					0	0	0.003610	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249346	71249346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:71249346C>T	ENST00000398534.3	+	1	276	c.245C>T	c.(244-246)tCt>tTt	p.S82F		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	82	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GGCTGTGGTTCTTGTGGCTGC	0.652000													77	76					0	0	0.003610	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165420	134165420	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:134165420C>T	ENST00000372264.3	+	1	340	c.36C>T	c.(34-36)gaC>gaT	p.D12D	PPAPDC3_ENST00000372261.1_Silent_p.D12D	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	12						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GTGCCCGGGACCGCAACAACG	0.706000													7	11					0	0	0.001984	0	0
TRPM6	140803	broad.mit.edu	37	9	77390934	77390934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:77390934G>A	ENST00000451710.3	-	24	3505	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	TRPM6_ENST00000360774.1_Missense_Mutation_p.R1090C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1090					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						ATGATGTAGCGATAGCGGTTG	0.493000													42	55					0	0	0.003214	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890499	2890499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:2890499C>T	ENST00000380698.4	-	7	1118	c.1029G>A	c.(1027-1029)atG>atA	p.M343I		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	343					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GGCCAGATTCCATGCAGCACT	0.532000													23	49					0	0	0.003330	0	0
TMEM50A	23585	broad.mit.edu	37	1	25679448	25679448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:25679448G>A	ENST00000374358.4	+	5	903	c.350G>A	c.(349-351)gGa>gAa	p.G117E	TMEM50A_ENST00000480937.1_Intron	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	117						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		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;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		ATTCTTTTTGGAGGTTATGTT	0.328000													47	2					0	0	0.003610	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692586	23692586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:23692586G>A	ENST00000397312.2	-	7	1323	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	ELAVL2_ENST00000223951.6_Missense_Mutation_p.S337F|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S380F|ELAVL2_ENST00000544538.1_Missense_Mutation_p.S350F|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S350F	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	350	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGTCTTAAAGGAGACCTGCAG	0.403000													11	0					0	0	0.001855	0	0
CHRNA10	57053	broad.mit.edu	37	11	3690440	3690440	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:3690440G>A	ENST00000250699.2	-	3	419	c.348C>T	c.(346-348)atC>atT	p.I116I	CHRNA10_ENST00000493827.2_5'UTR|CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	116					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TATAGAGTACGATGTCTGGCC	0.577000													15	24					0	0	0.004007	0	0
TRAV30	28652	broad.mit.edu	37	14	22636339	22636339	+	RNA	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:22636339G>A	ENST00000557168.1	+	0	15																											AGACTCTCCTGAAAGTGCTTT	0.468000													82	100					0	0	0.003610	0	0
PLCE1	51196	broad.mit.edu	37	10	96084290	96084290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:96084290G>A	ENST00000260766.3	+	31	7320	c.6686G>A	c.(6685-6687)gGa>gAa	p.G2229E	NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.G1921E|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1921E|PLCE1_ENST00000371380.2_Missense_Mutation_p.G2229E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2229	Ras-associating 2.				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	p.G2229K(1)|p.G1921K(1)|p.G1921E(1)|p.G2229E(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGGTGCAGGAAAATTCATC	0.433000													46	12					0	0	0.003610	0	0
MBD4	8930	broad.mit.edu	37	3	129152700	129152700	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:129152700C>T	ENST00000429544.2	-	5	1581	c.1386G>A	c.(1384-1386)cgG>cgA	p.R462R	MBD4_ENST00000393278.2_Silent_p.R150R|MBD4_ENST00000507208.1_Silent_p.R468R|MBD4_ENST00000249910.1_Silent_p.R468R|MBD4_ENST00000503197.1_Silent_p.R468R	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	468					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AACCTGAGGTCCGATTGAGAA	0.413000								Base excision repair (BER), DNA glycosylases					16	31					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	216348806	216348806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:216348806G>A	ENST00000366943.2	-	21	4801	c.4415C>T	c.(4414-4416)cCa>cTa	p.P1472L	USH2A_ENST00000307340.3_Missense_Mutation_p.P1472L|USH2A_ENST00000366942.3_Missense_Mutation_p.P1472L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1472					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)		AACCAGAGGTGGCCTCAGTTG	0.393000										HNSCC(13;0.011)			34	5					0	0	0.003755	0	0
DNAH17	8632	broad.mit.edu	37	17	76503829	76503829	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:76503829G>T	ENST00000389840.5	-	28	4407	c.4283C>A	c.(4282-4284)cCg>cAg	p.P1428Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.P1429Q					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)			GCCTGTCCGCGGGTGCGGCTC	0.557000													3	12					0.004672	0.0067033	0.004672	1	0
IRGQ	126298	broad.mit.edu	37	19	44099230	44099230	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:44099230C>T	ENST00000422989.1	-	2	416	c.261G>A	c.(259-261)ggG>ggA	p.G87G	IRGQ_ENST00000602269.1_Silent_p.G87G	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	87							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GTTCCCCGTTCCCCTCGGGTC	0.721000													10	12					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9058519	9058519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9058519C>T	ENST00000397910.4	-	3	29130	c.28927G>A	c.(28927-28929)Gaa>Aaa	p.E9643K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9645	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						GTGACAACTTCATCGGAGATG	0.502000													13	19					0	0	0.001855	0	0
RHBDF1	64285	broad.mit.edu	37	16	111688	111688	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:111688G>A	ENST00000262316.6	-	9	1357	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	RHBDF1_ENST00000454039.2_Silent_p.F405F	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	405					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGTAGGTGAAGAAGGGCCTGC	0.677000													11	15					0	0	0.000978	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569368	11569368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:11569368C>T	ENST00000359227.3	-	4	816	c.392G>A	c.(391-393)gGg>gAg	p.G131E	ELAVL3_ENST00000438662.2_Missense_Mutation_p.G131E	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	131	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTTGGGGAGCCCGCTGACGTA	0.607000													24	43					0	0	0.003954	0	0
OR2G6	391211	broad.mit.edu	37	1	248685544	248685544	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:248685544C>T	ENST00000343414.4	+	1	629	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473000													52	8					0	0	0.003610	0	0
SP140	11262	broad.mit.edu	37	2	231150502	231150502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:231150502G>A	ENST00000392045.3	+	17	1714	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K|SP140_ENST00000343805.6_Missense_Mutation_p.E474K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	534					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)		GGTCTCCAGTGAAAAGAAGGC	0.458000													43	60					0	0	0.003610	0	0
FAM184A	79632	broad.mit.edu	37	6	119301436	119301436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:119301436G>A	ENST00000338891.7	-	10	2611	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.T723M|FAM184A_ENST00000368475.4_Missense_Mutation_p.T603M|FAM184A_ENST00000352896.5_Missense_Mutation_p.T603M	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	723								p.T723R(1)|p.T723M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCGTTCTTGCGTAAACTGGGC	0.438000													24	3					0	0	0.002780	0	0
C12orf50	160419	broad.mit.edu	37	12	88379718	88379718	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:88379718G>A	ENST00000298699.2	-	11	1215	c.1035C>T	c.(1033-1035)gtC>gtT	p.V345V	C12orf50_ENST00000550553.1_Silent_p.V306V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	345										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CATTCAACGCGACAGTCCTGA	0.483000													42	55					0	0	0.003214	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715223	92715223	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:92715223C>T	ENST00000257068.2	+	2	840	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	278					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCATCAACCCCCAAGAAATGG	0.512000													160	222					0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126373627	126373627	+	Missense_Mutation	SNP	G	G	A	rs142857910		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:126373627G>A	ENST00000394329.3	+	9	11469	c.11456G>A	c.(11455-11457)cGa>cAa	p.R3819Q	FAT4_ENST00000335110.5_Missense_Mutation_p.R2117Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3819	EGF-like 1.				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						AGCTGTCTACGAAGATTGGCT	0.493000													22	18					0	0	0.001882	0	0
MS4A1	931	broad.mit.edu	37	11	60230528	60230528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:60230528G>A	ENST00000534668.1	+	3	502	c.213G>A	c.(211-213)atG>atA	p.M71I	MS4A1_ENST00000389939.2_Missense_Mutation_p.M71I|MS4A1_ENST00000532073.1_Missense_Mutation_p.M71I|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Missense_Mutation_p.M71I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	71				M -> I (in Ref. 4; AAA88911).	B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GTCTTCTGATGATCCCAGCAG	0.517000													47	47					0	0	0.003610	0	0
SORCS2	57537	broad.mit.edu	37	4	7726903	7726903	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:7726903G>A	ENST00000507866.2	+	20	2743	c.2634G>A	c.(2632-2634)ctG>ctA	p.L878L	SORCS2_ENST00000329016.9_Silent_p.L706L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	878						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCTCTACCTGGAGGTGGTTC	0.572000													21	40					0	0	0.003330	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326684	64326684	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:64326684C>T	ENST00000301891.4	+	2	845	c.471C>T	c.(469-471)tcC>tcT	p.S157S	SLC22A11_ENST00000377585.3_Silent_p.S157S|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Silent_p.S157S	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	157					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGGTGGGCTCCTTTATCTGGG	0.602000													20	29					0	0	0.001523	0	0
ANKRD9	122416	broad.mit.edu	37	14	102973340	102973340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:102973340G>A	ENST00000286918.4	-	4	1483	c.887C>T	c.(886-888)cCc>cTc	p.P296L	ANKRD9_ENST00000559651.1_Missense_Mutation_p.P296L|ANKRD9_ENST00000560748.1_Missense_Mutation_p.P296L	NM_152326.2	NP_689539.1	Q96BM1	ANKR9_HUMAN	ankyrin repeat domain 9	296										pancreas(1)|skin(1)	2						CAGGGCCTCGGGGAAGCGGCC	0.692000													4	14					0	0	0.000248	0	0
DNAH3	55567	broad.mit.edu	37	16	20976176	20976176	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:20976176G>A	ENST00000261383.3	-	53	9029	c.9030C>T	c.(9028-9030)ggC>ggT	p.G3010G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3010					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)		CTGTAAAAGCGCCCAGGTAAG	0.527000													21	25					0	0	0.008871	0	0
SCD	6319	broad.mit.edu	37	10	102116451	102116451	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:102116451C>T	ENST00000370355.2	+	5	1191	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	270					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CTGCCCACCTCTTCGGATATC	0.488000													19	1					0	0	0.001523	0	0
FAM194A	131831	broad.mit.edu	37	3	150384710	150384710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:150384710G>A	ENST00000295910.6	-	13	1644	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	FAM194A_ENST00000491361.1_Missense_Mutation_p.P385L	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	531										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACAAAGGGTGAGGAAGT	0.408000													32	50					0	0	0.001786	0	0
LYPD6	130574	broad.mit.edu	37	2	150327209	150327209	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:150327209T>C	ENST00000334166.4	+	5	618	c.361T>C	c.(361-363)Tgt>Cgt	p.C121R	LYPD6_ENST00000409381.1_Missense_Mutation_p.C121R	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	121	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		CTGCACTTCTTGTTGTGAAGG	0.468000													23	48					0	0	0.004656	0	0
ORAI3	93129	broad.mit.edu	37	16	30964993	30964993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:30964993G>A	ENST00000318663.4	+	2	940	c.716G>A	c.(715-717)gGg>gAg	p.G239E	ORAI3_ENST00000566237.1_Missense_Mutation_p.G239E|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	239						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						GGGGCCCATGGGCCAGGCTGG	0.652000											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	51					0	0	0.003610	0	0
RFFL	117584	broad.mit.edu	37	17	33343492	33343492	+	Silent	SNP	G	G	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:33343492G>T	ENST00000315249.7	-	5	1005	c.783C>A	c.(781-783)atC>atA	p.I261I	RFFL_ENST00000415395.2_Silent_p.I261I|RFFL_ENST00000268850.7_Silent_p.I233I|RFFL_ENST00000413582.2_Silent_p.I261I|RFFL_ENST00000394597.2_Silent_p.I261I|RFFL_ENST00000378516.2_Silent_p.I261I|RAD51L3-RFFL_ENST00000593039.1_Silent_p.I178I|RFFL_ENST00000584655.1_Silent_p.I233I|RFFL_ENST00000447669.2_Silent_p.I261I			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	261	SAP 2.				apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGCGAGCCAAGATCTCTTTCA	0.552000													54	80					4.60343e-24	6.7768e-24	0.003610	1	0
COL7A1	1294	broad.mit.edu	37	3	48602893	48602893	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:48602893G>C	ENST00000328333.8	-	115	8584	c.8477C>G	c.(8476-8478)tCc>tGc	p.S2826C	COL7A1_ENST00000454817.1_Missense_Mutation_p.S2794C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2826	Nonhelical region (NC2).				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)		ATGGAGCTGGGAGCCGGCAGT	0.652000													8	7					0	0	0.004482	0	0
APAF1	317	broad.mit.edu	37	12	99053033	99053033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:99053033C>T	ENST00000357310.1	+	5	1199	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q197*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q197*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000552268.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q208*|APAF1_ENST00000333991.1_Nonsense_Mutation_p.Q208*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q208*	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	208	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ACGGTTGGATCAGGATGAGAG	0.478000													51	48					0	0	0.003610	0	0
APLP2	334	broad.mit.edu	37	11	130013310	130013310	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:130013310C>T	ENST00000263574.5	+	18	2331	c.2259C>T	c.(2257-2259)ccC>ccT	p.P753P	APLP2_ENST00000278756.7_Silent_p.P751P|APLP2_ENST00000543137.1_Silent_p.P648P|APLP2_ENST00000539648.1_Silent_p.P541P|APLP2_ENST00000528499.1_Silent_p.P685P|APLP2_ENST00000345598.5_Silent_p.P512P|APLP2_ENST00000338167.5_Silent_p.P741P	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	753					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATGAGAACCCCACCTACAAAT	0.557000													25	42					0	0	0.003954	0	0
HERC5	51191	broad.mit.edu	37	4	89390338	89390338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:89390338C>T	ENST00000264350.3	+	9	1318	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	HERC5_ENST00000508159.1_Missense_Mutation_p.P27S	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	389					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)		GAGGACAATTCCTACTCTGAA	0.398000													9	20					0	0	0.008291	0	0
TRIM29	23650	broad.mit.edu	37	11	120008138	120008138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:120008138G>A	ENST00000341846.5	-	1	1023	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	201					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCAGGTGGGGCTTGAGATG	0.647000													9	18					0	0	0.004482	0	0
RP1	6101	broad.mit.edu	37	8	55541651	55541651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:55541651G>A	ENST00000220676.1	+	4	5357	c.5209G>A	c.(5209-5211)Gaa>Aaa	p.E1737K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1737					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)			AGACATAGAGGAAGGAGTACT	0.418000													8	12					0	0	0.003080	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964637	119964637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:119964637G>A	ENST00000543831.1	+	4	762	c.513G>A	c.(511-513)tgG>tgA	p.W171*	HSD3B2_ENST00000369416.3_Nonsense_Mutation_p.W171*	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	171					androgen 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			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTAATGGGTGGAATCTAAAAA	0.493000													24	74					0	0	0.002299	0	0
PAG1	55824	broad.mit.edu	37	8	81897151	81897151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:81897151G>A	ENST00000220597.4	-	7	1446	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	246					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAATTTCCAAGGATACTCTCT	0.498000													37	51					0	0	0.006230	0	0
ABCA2	20	broad.mit.edu	37	9	139912064	139912064	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:139912064G>A	ENST00000265662.5	-	17	2439	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	ABCA2_ENST00000371605.3_Silent_p.S763S|ABCA2_ENST00000341511.6_Silent_p.S764S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	763					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)		GTGCTGTCACGGAGATGGACA	0.617000													33	0					0	0	0.004289	0	0
AIFM2	84883	broad.mit.edu	37	10	71883676	71883676	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:71883676G>A	ENST00000307864.1	-	2	378	c.165C>T	c.(163-165)gcC>gcT	p.A55A	AIFM2_ENST00000373248.1_Silent_p.A55A	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	55					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TCTCCACGGAGGCTCGGAGAG	0.607000													12	3					0	0	0.002450	0	0
GP6	51206	broad.mit.edu	37	19	55526398	55526398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:55526398G>A	ENST00000417454.1	-	8	938	c.911C>T	c.(910-912)gCt>gTt	p.A304V	GP6_ENST00000333884.2_Missense_Mutation_p.A286V|GP6_ENST00000310373.3_Silent_p.G305G|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_016363.4	NP_057447.4	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	304					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCTCTGCACAGCCCTGCCCCT	0.662000													8	12					0	0	0.008291	0	0
TKTL2	84076	broad.mit.edu	37	4	164393087	164393087	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:164393087C>T	ENST00000280605.3	-	1	1960	c.1800G>A	c.(1798-1800)ggG>ggA	p.G600G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	600						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)				CACTAGTTTTCCCACGTTGAG	0.438000													21	40					0	0	0.008871	0	0
ADARB1	104	broad.mit.edu	37	21	46596439	46596439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:46596439G>A	ENST00000539173.1	+	4	1258	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ADARB1_ENST00000348831.4_Missense_Mutation_p.E275K|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Missense_Mutation_p.E275K|ADARB1_ENST00000360697.3_Missense_Mutation_p.E275K	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	275	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCAGTTCTTTGAAGGCTCGGG	0.577000													30	30					0	0	0.008361	0	0
RFWD2	64326	broad.mit.edu	37	1	175957522	175957522	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:175957522C>G	ENST00000367669.3	-	17	2388	c.1874G>C	c.(1873-1875)tGg>tCg	p.W625S	RFWD2_ENST00000308769.8_Missense_Mutation_p.W601S	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	625					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCTACATTCCACAGTTTTAG	0.393000													11	32					0	0	0.008291	0	0
LILRB4	11006	broad.mit.edu	37	19	55176268	55176268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:55176268G>A	ENST00000391736.1	+	7	989	c.674G>A	c.(673-675)aGg>aAg	p.R225K	LILRB4_ENST00000391734.3_Missense_Mutation_p.R225K|LILRB4_ENST00000391733.3_Missense_Mutation_p.R225K|LILRB4_ENST00000270452.2_Missense_Mutation_p.R225K|LILRB4_ENST00000430952.2_Missense_Mutation_p.R225K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	225						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGGATCCCAGGCCCTCACCC	0.557000													9	11					0	0	0.008291	0	0
GSDMB	55876	broad.mit.edu	37	17	38068632	38068632	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:38068632G>A	ENST00000394175.2	-	2	577	c.354C>T	c.(352-354)atC>atT	p.I118I	GSDMB_ENST00000360317.3_Silent_p.I118I|GSDMB_ENST00000309481.7_Silent_p.I118I|GSDMB_ENST00000520542.1_Silent_p.I118I|GSDMB_ENST00000394179.1_Silent_p.I118I|GSDMB_ENST00000418519.1_Silent_p.I118I	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	118						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CCGATATCTTGATTTTCTGAT	0.463000													34	33					0	0	0.004878	0	0
THSD1	55901	broad.mit.edu	37	13	52972044	52972044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:52972044G>A	ENST00000349258.4	-	3	888	c.344C>T	c.(343-345)cCc>cTc	p.P115L	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.P115L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	115						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCCCACCAGGGGAATGGAGT	0.502000													32	67					0	0	0.004878	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654143	46654143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:46654143C>T	ENST00000253255.5	-	1	5076	c.5077G>A	c.(5077-5079)Gaa>Aaa	p.E1693K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1693					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTCTGATTTCATCTTCTGTA	0.423000													24	29					0	0	0.004656	0	0
C1D	10438	broad.mit.edu	37	2	68274371	68274371	+	Silent	SNP	G	G	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:68274371G>C	ENST00000355848.3	-	2	119	c.72C>G	c.(70-72)tcC>tcG	p.S24S	C1D_ENST00000409302.1_Silent_p.S24S|C1D_ENST00000407324.1_Silent_p.S63S|C1D_ENST00000410067.3_Silent_p.S24S			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	24	Required for transcriptional repression (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						CAGCACCAATGGAATTCTCAA	0.338000													11	20					0	0	0.008291	0	0
DNAH1	25981	broad.mit.edu	37	3	52366279	52366279	+	Silent	SNP	G	G	A	rs141835525	by1000genomes	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:52366279G>A	ENST00000420323.2	+	8	1416	c.1155G>A	c.(1153-1155)acG>acA	p.T385T		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	385	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAAGAACACGGAAGCACTGC	0.577000													11	9					0	0	0.001368	0	0
CABP4	57010	broad.mit.edu	37	11	67223192	67223192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:67223192C>T	ENST00000325656.5	+	1	375	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	100					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACCGACATCGTCCTGACTC	0.677000													6	9					0	0	0.001168	0	0
HNMT	3176	broad.mit.edu	37	2	138724683	138724683	+	Nonstop_Mutation	SNP	T	T	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:138724683T>G	ENST00000280096.5	+	2	173	c.154T>G	c.(154-156)Taa>Gaa	p.*52E	HNMT_ENST00000280097.3_Intron|HNMT_ENST00000329366.4_Intron|HNMT_ENST00000485653.1_Intron|HNMT_ENST00000410115.1_Intron	NM_001024074.2	NP_001019245.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	0					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	gaattgctgttaacaaataaa	0.398000													20	18					0	0	0.001523	0	0
BAGE2	85319	broad.mit.edu	37	21	11058201	11058201	+	RNA	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr21:11058201G>A	ENST00000470054.1	-	0	446									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)		GACAAAGCAGGAAGATGTGAC	0.398000													9	53					0	0	0.004482	0	0
SLFN11	91607	broad.mit.edu	37	17	33690173	33690173	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:33690173G>A	ENST00000394566.1	-	4	926	c.654C>T	c.(652-654)ttC>ttT	p.F218F	SLFN11_ENST00000308377.4_Silent_p.F218F	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	218						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)		GTTTTGTAGAGAACTGTTTAA	0.388000													29	37					0	0	0.008361	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201725	193201725	+	Splice_Site	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:193201725C>T	ENST00000342695.4	-	8	1130	c.808_splice	c.e8+1	p.A270_splice	ATP13A4_ENST00000295548.3_Splice_Site_p.A270_splice|ATP13A4_ENST00000392443.3_Splice_Site_p.A270_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	270					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGGAACTTACCTTTTCTCCCA	0.333000													40	68					0	0	0.008740	0	0
NDST4	64579	broad.mit.edu	37	4	115997465	115997465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:115997465G>A	ENST00000264363.2	-	2	1406	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	243	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGATGACAGGGATTTTTCTGT	0.423000													27	31					0	0	0.008361	0	0
OR4A16	81327	broad.mit.edu	37	11	55110709	55110709	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:55110709C>T	ENST00000314721.2	+	1	83	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CAGAATTTGTCCTCCTGGGCC	0.388000													8	11					0	0	0.003080	0	0
TMEM206	55248	broad.mit.edu	37	1	212560296	212560296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:212560296C>T	ENST00000261455.4	-	3	417	c.280G>A	c.(280-282)Gag>Aag	p.E94K	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.E155K	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	94						integral to membrane		p.E94*(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGAGTTTCTCACGAAAGTCT	0.557000													55	148					0	0	0.003610	0	0
RBM5	10181	broad.mit.edu	37	3	50137972	50137972	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:50137972C>T	ENST00000347869.3	+	6	592	c.417C>T	c.(415-417)agC>agT	p.S139S	RBM5_ENST00000469838.1_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	139	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGGTGTAAGCCGTGGTTTCG	0.453000													19	22					0	0	0.001882	0	0
OR11L1	391189	broad.mit.edu	37	1	248004239	248004239	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:248004239G>A	ENST00000355784.2	-	1	1015	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F320F(1)		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)			CCTAATAAAGGAACTTCCTTT	0.363000													42	2					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168108159	168108159	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:168108159C>T	ENST00000409195.1	+	9	10346	c.10257C>T	c.(10255-10257)ttC>ttT	p.F3419F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F3419F|XIRP2_ENST00000409273.1_Silent_p.F3197F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3244					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						GTGAACATTTCTCAGGCATGG	0.433000													23	34					0	0	0.002299	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200826983	200826983	+	Silent	SNP	C	C	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:200826983C>A	ENST00000358823.2	+	17	4503	c.4233C>A	c.(4231-4233)atC>atA	p.I1411I	CAMSAP2_ENST00000236925.4_Silent_p.I1422I|CAMSAP2_ENST00000413307.2_Silent_p.I1395I	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1422	CKK.					cytoplasm|microtubule	protein binding										CTGAAGAAATCAATAAACTGA	0.368000													32	62					1.13719e-10	1.66788e-10	0.008361	1	0
ABAT	18	broad.mit.edu	37	16	8862775	8862775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:8862775C>T	ENST00000396600.2	+	11	1699	c.761C>T	c.(760-762)cCt>cTt	p.P254L	ABAT_ENST00000567812.1_Missense_Mutation_p.P269L|ABAT_ENST00000268251.8_Missense_Mutation_p.P254L|ABAT_ENST00000569156.1_Missense_Mutation_p.P254L|ABAT_ENST00000425191.2_Missense_Mutation_p.P254L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	254					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)	CTGAAATACCCTCTGGAAGAG	0.537000													66	72					0	0	0.003610	0	0
TRIP10	9322	broad.mit.edu	37	19	6751248	6751248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:6751248G>A	ENST00000596758.1	+	14	1693	c.1693G>A	c.(1693-1695)Ggc>Agc	p.G565S	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_3'UTR|TRIP10_ENST00000313244.9_3'UTR|TRIP10_ENST00000600428.1_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	587	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGAAGAGGGGGGCTGTCGGCT	0.642000													22	31					0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9089865	9089865	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9089865G>A	ENST00000397910.4	-	1	2153	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	650	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						CTGGAGACACGGAGACTGGGA	0.552000													42	59					0	0	0.003214	0	0
SIDT2	51092	broad.mit.edu	37	11	117063910	117063910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:117063910C>T	ENST00000324225.4	+	23	2678	c.2147C>T	c.(2146-2148)tCc>tTc	p.S716F	SIDT2_ENST00000431081.2_Missense_Mutation_p.S713F|SIDT2_ENST00000532062.1_Missense_Mutation_p.S8F	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	716						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GATTTCGCTTCCTACTTGTTG	0.557000													149	215					0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167095469	167095469	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:167095469G>A	ENST00000361200.2	+	6	1267	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Silent_p.Q367Q|DUSP27_ENST00000443333.1_Silent_p.Q367Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	367					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						AGGTCCCCCAGGATGGAGGTG	0.637000													18	0					0	0	0.008871	0	0
RTN2	6253	broad.mit.edu	37	19	45996534	45996534	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:45996534A>C	ENST00000590526.1	-	5	1221	c.95T>G	c.(94-96)gTc>gGc	p.V32G	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000245923.4_Missense_Mutation_p.V306G|RTN2_ENST00000344680.4_Intron			O75298	RTN2_HUMAN	reticulon 2	306						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCCCCTTTGGACCCAGCCAAT	0.552000													35	38					0	0	0.005524	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502373	220502373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:220502373G>A	ENST00000358055.3	+	17	3118	c.2606G>A	c.(2605-2607)gGt>gAt	p.G869D	SLC4A3_ENST00000373762.3_Missense_Mutation_p.G896D|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G869D|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G869D|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G896D			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	869	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGATGCTGGTCTGGAGCCA	0.642000													14	19					0	0	0.003163	0	0
GRID2	2895	broad.mit.edu	37	4	94137897	94137897	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:94137897C>T	ENST00000282020.4	+	6	1056	c.798C>T	c.(796-798)aaC>aaT	p.N266N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.N171N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	266					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGAAATAAACGATGTGGACG	0.373000													33	44					0	0	0.003755	0	0
ZNF229	7772	broad.mit.edu	37	19	44934705	44934705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:44934705C>T	ENST00000291187.4	-	6	555	c.233G>A	c.(232-234)gGa>gAa	p.G78E	ZNF229_ENST00000588931.1_Missense_Mutation_p.G84E|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGTATCCTTTCCATTCTTGTC	0.398000													17	13					0	0	0.006122	0	0
RAD18	56852	broad.mit.edu	37	3	8977684	8977684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:8977684G>A	ENST00000264926.2	-	7	876	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	254	SAP.				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTTAAATCACGATCAGAGAGC	0.353000								Rad6 pathway					26	22					0	0	0.005443	0	0
LCE1B	353132	broad.mit.edu	37	1	152785266	152785266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:152785266G>A	ENST00000360090.3	+	1	820	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	115	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)			CAGCACTCTGGAGGCTGCTGC	0.602000													85	8					0	0	0.003610	0	0
CEP350	9857	broad.mit.edu	37	1	180006154	180006154	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:180006154C>G	ENST00000367607.3	+	17	4458	c.4040C>G	c.(4039-4041)tCa>tGa	p.S1347*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1347						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CGCCAACTGTCAGATGTAGAA	0.463000													4	19					0	0	0.001168	0	0
ADAM28	10863	broad.mit.edu	37	8	24171079	24171079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr8:24171079G>A	ENST00000265769.4	+	6	672	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ADAM28_ENST00000540823.1_Intron|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.A188T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	188					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)		TGCCCTACCTGCCACCAAACT	0.413000													38	34					0	0	0.002222	0	0
MUC16	94025	broad.mit.edu	37	19	9058517	9058517	+	Silent	SNP	T	T	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9058517T>C	ENST00000397910.4	-	3	29132	c.28929A>G	c.(28927-28929)gaA>gaG	p.E9643E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9645	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						TGGTGACAACTTCATCGGAGA	0.507000													14	18					0	0	0.002450	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:31940123G>A	ENST00000375331.2	+	2	431	c.265G>A	c.(265-267)Gac>Aac	p.D89N	STK19_ENST00000375333.2_Missense_Mutation_p.D89N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(4)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000													26	87					0	0	0.007291	0	0
OR52J3	119679	broad.mit.edu	37	11	5068657	5068657	+	Missense_Mutation	SNP	G	G	A	rs146387387		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:5068657G>A	ENST00000380370.1	+	1	902	c.902G>A	c.(901-903)cGa>cAa	p.R301Q		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACAGATTCGAGAACGAGTG	0.378000													16	27					0	0	0.004990	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027323	55027323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:55027323G>A	ENST00000324000.3	+	4	2992	c.958G>A	c.(958-960)Gga>Aga	p.G320R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	320					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCACTTGTATGGATTTTGGCC	0.423000													18	13					0	0	0.007413	0	0
HYLS1	219844	broad.mit.edu	37	11	125769495	125769495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:125769495C>T	ENST00000425380.2	+	3	1013	c.232C>T	c.(232-234)Cct>Tct	p.P78S	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.P78S|HYLS1_ENST00000356438.3_Missense_Mutation_p.P78S	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	78						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		AAGTAATGTCCCTTCAGAAAC	0.478000													16	22					0	0	0.004007	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95488775	95488775	+	RNA	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:95488775C>T	ENST00000432432.2	-	0	1238					NR_040113.1																						TCACTTCTTTCATGCCTTTCT	0.343000													32	52					0	0	0.006999	0	0
IL17RE	132014	broad.mit.edu	37	3	9953263	9953263	+	Silent	SNP	C	C	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:9953263C>A	ENST00000454190.2	+	12	1294	c.1209C>A	c.(1207-1209)ccC>ccA	p.P403P	IL17RE_ENST00000421412.1_Silent_p.P436P|IL17RE_ENST00000383814.3_Silent_p.P403P|IL17RE_ENST00000295980.3_Silent_p.P403P	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	403						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGGTGCCCCCCGTGTACACTG	0.572000													5	100					0.00116845	0.00168256	0.001168	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299290	125299290	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:125299290G>A	ENST00000538699.1	-	2	698	c.618C>T	c.(616-618)acC>acT	p.T206T	DCAF12L2_ENST00000360028.2_Silent_p.T206T	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	206								p.T206T(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCACAGCTACGGTGTCACTCA	0.657000													21	3					0	0	0.001523	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833125	24833125	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:24833125G>A	ENST00000376451.2	+	14	4235	c.3975G>A	c.(3973-3975)gaG>gaA	p.E1325E	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.E1642E|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1642					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						GGAGGCAAGAGCAGCCCAGCA	0.473000													23	3					0	0	0.001882	0	0
C1orf177	163747	broad.mit.edu	37	1	55277557	55277557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:55277557G>A	ENST00000358193.3	+	5	625	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	C1orf177_ENST00000371273.3_Missense_Mutation_p.G191S	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	191										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCATTCCGAGGGCCTCATGTG	0.607000													19	4					0	0	0.008871	0	0
FBXO10	26267	broad.mit.edu	37	9	37515909	37515909	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:37515909G>A	ENST00000432825.2	-	10	2736	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.F421F	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	896						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTTTTTCTTGAAGACCAGGA	0.498000													45	10					0	0	0.003610	0	0
DHRS3	9249	broad.mit.edu	37	1	12639360	12639360	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:12639360G>A	ENST00000376223.2	-	3	803	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	140					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GGGACTTGAGGAGGGCATCAT	0.622000													40	4					0	0	0.002852	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984543	140984543	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:140984543G>A	ENST00000544766.1	+	5	632	c.105G>A	c.(103-105)gaG>gaA	p.E35E	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Silent_p.E35E|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Silent_p.E35E|MAGEC3_ENST00000483584.1_3'UTR	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	429										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)					TAGATGAGGAGGAGGAGGATG	0.517000													29	6					0	0	0.001786	0	0
MUC16	94025	broad.mit.edu	37	19	9088734	9088734	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9088734C>T	ENST00000397910.4	-	1	3284	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1027	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						CTGGGCCATTCGTGGTCTCTG	0.468000													55	80					0	0	0.003610	0	0
MTA2	9219	broad.mit.edu	37	11	62368097	62368097	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:62368097G>A	ENST00000278823.2	-	2	482	c.93C>T	c.(91-93)aaC>aaT	p.N31N	MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	31	BAH.				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						CACTCACCTTGTTGAGCTCCT	0.498000													13	13					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13769713	13769713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:13769713C>T	ENST00000265104.4	-	57	9721	c.9617G>A	c.(9616-9618)gGa>gAa	p.G3206E	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3206	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)					CTTTTCCAATCCAGTATTCAT	0.418000									Kartagener syndrome				48	10					0	0	0.003610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137769	40137769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:40137769G>A	ENST00000278198.2	-	2	2037	c.74C>T	c.(73-75)cCc>cTc	p.P25L	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P25L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P25L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P25L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	25					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)				CACAAGCAGGGGGTCAAATAG	0.507000													10	12					0	0	0.008291	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223197	140223197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:140223197C>T	ENST00000531613.1	+	1	2291	c.2291C>T	c.(2290-2292)cCa>cTa	p.P764L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P764L|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGGGGCCACCGAAGACG	0.602000													13	3					0	0	0.001855	0	0
NYAP2	57624	broad.mit.edu	37	2	226447476	226447476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:226447476C>T	ENST00000272907.6	+	4	1756	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	448	Pro-rich.																TCCCTGACTCCCCTGAGCCTC	0.632000													10	16					0	0	0.006214	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369679	77369679	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:77369679G>A	ENST00000282849.5	-	12	2251	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	611	TSP type-1 1.				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						GTCTCTCCTGGAACTTGACTC	0.542000													72	13					0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98547816	98547816	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:98547816G>A	ENST00000359863.4	+	37	5453	c.5244G>A	c.(5242-5244)caG>caA	p.Q1748Q	TRRAP_ENST00000446306.3_Silent_p.Q1729Q|TRRAP_ENST00000355540.3_Silent_p.Q1730Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1748					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)			GCATCGCTCAGAAACGTGCCC	0.438000													26	4					0	0	0.003954	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272445	11272445	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:11272445C>T	ENST00000409790.1	+	24	3290	c.3060C>T	c.(3058-3060)agC>agT	p.S1020S	CLEC16A_ENST00000381822.2_Silent_p.S107S	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	1020								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCTCCGCAGCCTCACCGGCA	0.687000													7	12					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179469027	179469027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:179469027C>T	ENST00000589042.1	-	282	54611	c.54387G>A	c.(54385-54387)tgG>tgA	p.W18129*	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W9189*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W9256*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W15561*|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W9064*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16488*|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16488	Fibronectin type-III 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)			GGATAAGTTTCCAGATCTAGA	0.338000													9	17					0	0	0.006214	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728090	20728090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:20728090G>A	ENST00000427401.4	-	4	1013	c.919C>T	c.(919-921)Cat>Tat	p.H307Y		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	307					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCGCTATGAATTATCTTA	0.408000													6	8					0	0	0.001984	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520828	69520828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:69520828G>A	ENST00000338206.5	-	4	1087	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	360					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGGTCATTCTGGGGTAACCAC	0.358000													8	147					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9047148	9047148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:9047148G>A	ENST00000397910.4	-	5	34686	c.34483C>T	c.(34483-34485)Cct>Tct	p.P11495S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11497	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						GTCTCTGCAGGATGAATGAGC	0.512000													43	61					0	0	0.003214	0	0
TCF20	6942	broad.mit.edu	37	22	42607026	42607026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr22:42607026G>A	ENST00000359486.3	-	1	4422	c.4286C>T	c.(4285-4287)cCt>cTt	p.P1429L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1429L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTTGGAAGAGGTTTCTCTAC	0.517000													70	68					0	0	0.003610	0	0
TTC18	118491	broad.mit.edu	37	10	75082751	75082751	+	Silent	SNP	G	G	A	rs149669117		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:75082751G>A	ENST00000401621.2	-	10	1212	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	TTC18_ENST00000394865.1_Silent_p.Y364Y|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Silent_p.Y364Y|TTC18_ENST00000355577.3_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	364							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTAGGTAAGGGTAAACATGAA	0.353000													17	6					0	0	0.008871	0	0
NLRP2	55655	broad.mit.edu	37	19	55508802	55508802	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:55508802G>A	ENST00000543010.1	+	12	3140	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V	NLRP2_ENST00000538819.1_Silent_p.V975V|NLRP2_ENST00000427260.2_Silent_p.V976V|NLRP2_ENST00000537859.1_Silent_p.V977V|NLRP2_ENST00000391721.4_Silent_p.V975V|NLRP2_ENST00000263437.6_Silent_p.V996V|NLRP2_ENST00000339757.7_Silent_p.V977V|NLRP2_ENST00000448584.2_Silent_p.V999V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	999					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGTGGAGTGAAGATGCTGT	0.537000													45	70					0	0	0.003610	0	0
NTPCR	84284	broad.mit.edu	37	1	233091435	233091435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:233091435C>T	ENST00000366627.4	+	2	238	c.167C>T	c.(166-168)tCc>tTc	p.S56F	NTPCR_ENST00000366628.4_Missense_Mutation_p.S56F			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	56							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GTCACGTTGTCCGGCACCCGG	0.463000													44	2					0	0	0.003610	0	0
TLR6	10333	broad.mit.edu	37	4	38829058	38829058	+	Silent	SNP	G	G	A	rs56107625		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:38829058G>A	ENST00000436693.2	-	2	2156	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	TLR6_ENST00000381950.1_Silent_p.V679V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	679	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTGCCAGGGACAAAGTTTC	0.393000													26	41					0	0	0.004656	0	0
OR4X1	390113	broad.mit.edu	37	11	48285553	48285553	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:48285553C>T	ENST00000320048.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGGTGACCATCCTGGCCAGCA	0.488000													20	17					0	0	0.001882	0	0
SCN9A	6335	broad.mit.edu	37	2	167060517	167060517	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:167060517G>A	ENST00000375387.4	-	26	5065	c.4725C>T	c.(4723-4725)ttC>ttT	p.F1575F	SCN9A_ENST00000409435.1_Silent_p.F1574F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.F1563F|SCN9A_ENST00000303354.6_Silent_p.F1575F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1574						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)	ATCCTACAGTGAAGTAGTAGT	0.299000													12	11					0	0	0.001855	0	0
APTX	54840	broad.mit.edu	37	9	32987831	32987831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:32987831G>A	ENST00000379817.2	-	3	390	c.194C>T	c.(193-195)cCc>cTc	p.P65L	APTX_ENST00000397172.3_Missense_Mutation_p.P79L|APTX_ENST00000436040.2_Missense_Mutation_p.P65L|APTX_ENST00000379813.3_Missense_Mutation_p.P65L|APTX_ENST00000309615.3_Missense_Mutation_p.P79L|APTX_ENST00000463596.1_Missense_Mutation_p.P65L|APTX_ENST00000468275.1_Missense_Mutation_p.P65L|APTX_ENST00000476858.1_Intron|APTX_ENST00000379825.2_Missense_Mutation_p.P79L|APTX_ENST00000379819.1_Missense_Mutation_p.P79L			Q7Z2E3	APTX_HUMAN	aprataxin	79	FHA-like.|Interactions with ADPRT and NCL.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		AATGCTGGTGGGATTGACTCC	0.403000								Editing and processing nucleases					18	3					0	0	0.004990	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556191	45556191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:45556191C>T	ENST00000588982.1	-	4	1801	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.D434N|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.D434N|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.D434N|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.D434N			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	434						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						TTCTTGAGGTCGTAGTTGTGC	0.592000													17	25					0	0	0.008871	0	0
DDX39B	7919	broad.mit.edu	37	6	31498710	31498710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:31498710G>A	ENST00000376177.2	-	9	1142	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000396172.1_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000458640.1_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CCACCTGGAGGGAGACAGAGG	0.512000													22	48					0	0	0.002780	0	0
EDAR	10913	broad.mit.edu	37	2	109527452	109527452	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:109527452G>A	ENST00000409271.1	-	8	1049	c.606C>T	c.(604-606)atC>atT	p.I202I	EDAR_ENST00000376651.1_Silent_p.I202I|EDAR_ENST00000258443.2_Silent_p.I202I			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	202					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						tgatgaggacgatggcgatgg	0.572000													20	15					0	0	0.008871	0	0
RIT1	6016	broad.mit.edu	37	1	155874290	155874290	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:155874290C>G	ENST00000368323.3	-	5	445	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	RIT1_ENST00000539040.1_Missense_Mutation_p.E45Q|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.E98Q	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	81					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			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)			GCTGTAAACTCTGCCTAGAGG	0.428000													14	29					0	0	0.002450	0	0
AFM	173	broad.mit.edu	37	4	74350006	74350006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:74350006G>A	ENST00000226355.3	+	3	262	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	57	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)			GTATGTTCAGGAAGCAACCTT	0.408000													22	28					0	0	0.002780	0	0
FNDC1	84624	broad.mit.edu	37	6	159646676	159646676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:159646676G>A	ENST00000297267.9	+	8	1194	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.E332K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	332	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACTGTGTATGAATTTGCAGT	0.468000													48	5					0	0	0.003610	0	0
LMBRD1	55788	broad.mit.edu	37	6	70451759	70451759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:70451759G>A	ENST00000370577.3	-	6	713	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LMBRD1_ENST00000370570.1_Missense_Mutation_p.P89S	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	162					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACATTCAATGGAACAAAGGCA	0.269000													23	23					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	8995651	8995651	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:8995651C>T	ENST00000397910.4	-	63	41540	c.41337G>A	c.(41335-41337)tcG>tcA	p.S13779S	MUC16_ENST00000380951.5_Silent_p.S420S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13781				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						GGCCAAATATCGAGGCTGGAG	0.463000													12	11					0	0	0.001855	0	0
PARM1	25849	broad.mit.edu	37	4	75937934	75937934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:75937934G>A	ENST00000307428.7	+	2	555	c.343G>A	c.(343-345)Gga>Aga	p.G115R	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	115					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AACAAGCGGTGGAGTCCACTT	0.567000													30	57					0	0	0.007291	0	0
RIT1	6016	broad.mit.edu	37	1	155870322	155870322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:155870322C>T	ENST00000368323.3	-	6	721	c.517G>A	c.(517-519)Gat>Aat	p.D173N	RIT1_ENST00000539040.1_Missense_Mutation_p.D137N|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.D190N	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	173					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			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)			TGGAAAACATCATCAATATAG	0.453000													59	156					0	0	0.003610	0	0
SLC16A5	9121	broad.mit.edu	37	17	73102104	73102104	+	Silent	SNP	T	T	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:73102104T>A	ENST00000450736.2	+	6	1909	c.1494T>A	c.(1492-1494)gcT>gcA	p.A498A	SLC16A5_ENST00000329783.4_Silent_p.A498A|SLC16A5_ENST00000580123.1_Silent_p.A498A			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	498					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCaaacggctctgggctgga	0.547000											OREG0024726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	0.000602	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													5	58					0	0	0.000602	0	0
YEATS2	55689	broad.mit.edu	37	3	183516739	183516739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:183516739C>T	ENST00000305135.5	+	23	3482	c.3287C>T	c.(3286-3288)cCa>cTa	p.P1096L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1096					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCCAACTCCAGTTGTCCCC	0.463000													53	73					0	0	0.003610	0	0
KCNH3	23416	broad.mit.edu	37	12	49938070	49938070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:49938070C>T	ENST00000257981.6	+	7	1354	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	365					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGCTCATGGCCGTGTTCGCC	0.642000													7	10					0	0	0.001984	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703668	103703668	+	Missense_Mutation	SNP	G	G	A	rs143059000		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:103703668G>A	ENST00000245312.3	-	4	1296	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	234					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCCGCCACAGGAAATATTGTT	0.463000													16	31					0	0	0.002780	0	0
COL4A6	1288	broad.mit.edu	37	X	107430341	107430341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:107430341G>A	ENST00000334504.7	-	23	2169	c.1936C>T	c.(1936-1938)Ctt>Ttt	p.L646F	COL4A6_ENST00000372216.4_Missense_Mutation_p.L647F|COL4A6_ENST00000538570.1_Missense_Mutation_p.L646F|COL4A6_ENST00000545689.1_Missense_Mutation_p.L646F|COL4A6_ENST00000394872.2_Missense_Mutation_p.L647F	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	647	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GATCCGGGAAGGCCTTGTTGT	0.507000									Alport syndrome with Diffuse Leiomyomatosis				147	32					0	0	0.003610	0	0
FAM188B	84182	broad.mit.edu	37	7	30880436	30880436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:30880436G>A	ENST00000265299.6	+	9	1494	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	473										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCCTGTTTGAAGGAGATAG	0.498000													20	27					0	0	0.001882	0	0
SI	6476	broad.mit.edu	37	3	164733000	164733000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:164733000C>T	ENST00000264382.3	-	33	3972	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1304	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)	GTCTTTGTTTCATTTCCTGAA	0.353000										HNSCC(35;0.089)			13	16					0	0	0.001855	0	0
GPR98	84059	broad.mit.edu	37	5	90050985	90050985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:90050985G>A	ENST00000405460.2	+	55	11659	c.11563G>A	c.(11563-11565)Gaa>Aaa	p.E3855K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3855	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E3855K(2)		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)		AGCTCATGCCGAAGTTTCCAT	0.313000													6	1					0	0	0.001168	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792125	8792125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:8792125C>T	ENST00000447110.1	-	10	1103	c.979G>A	c.(979-981)Gag>Aag	p.E327K	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E327K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E327K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	327				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						acctcctcctcctcctcttcc	0.577000													10	2					0	0	0.006214	0	0
DYRK4	8798	broad.mit.edu	37	12	4705316	4705316	+	Splice_Site	SNP	T	T	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:4705316T>C	ENST00000540757.2	+	5	444	c.282_splice	c.e5-1	p.V95_splice	DYRK4_ENST00000010132.5_Splice_Site_p.V95_splice|DYRK4_ENST00000543431.1_Splice_Site_p.V95_splice	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	95			V -> I.			Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTTCCACAGGTCCTGCATGAT	0.552000													40	66					0	0	0.008740	0	0
CNTN1	1272	broad.mit.edu	37	12	41421659	41421659	+	Splice_Site	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:41421659C>T	ENST00000551295.2	+	22	2828	c.2710_splice	c.e22-1	p.P904_splice	CNTN1_ENST00000348761.2_Splice_Site_p.P893_splice|CNTN1_ENST00000347616.1_Splice_Site_p.P904_splice|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	904	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTTCACAGCTCCTAGCCAG	0.403000													12	22					0	0	0.001368	0	0
SFTA3	253970	broad.mit.edu	37	14	36946189	36946189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:36946189G>A	ENST00000518529.2	-	3	923	c.248C>T	c.(247-249)tCa>tTa	p.S83L	SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	83										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						GGCCTCGGATGAACTCCTGCT	0.517000													51	68					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100683508	100683508	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:100683508C>T	ENST00000306151.4	+	3	8875	c.8811C>T	c.(8809-8811)acC>acT	p.T2937T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2937	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)					TTGTCAGCACCGTGCCAGTGG	0.488000													90	15					0	0	0.003610	0	0
ZNF721	170960	broad.mit.edu	37	4	437361	437361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr4:437361G>A	ENST00000338977.5	-	2	907	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ZNF721_ENST00000511833.2_Missense_Mutation_p.H299Y|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTCCAGTATGAATTCTCCTA	0.378000													28	30					0	0	0.002096	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200826532	200826532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:200826532C>T	ENST00000358823.2	+	16	4381	c.4111C>T	c.(4111-4113)Cag>Tag	p.Q1371*	CAMSAP2_ENST00000236925.4_Nonsense_Mutation_p.Q1382*|CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.Q1355*	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1382	CKK.					cytoplasm|microtubule	protein binding										AAATGAAGGTCAGAAGAAAAA	0.363000													13	25					0	0	0.001368	0	0
DHX35	60625	broad.mit.edu	37	20	37653908	37653908	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr20:37653908C>T	ENST00000252011.3	+	18	1740	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	DHX35_ENST00000373323.4_Silent_p.F538F|DHX35_ENST00000373325.2_Silent_p.F569F	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	569						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGGAACATTTCCTGAATTACA	0.418000													71	84					0	0	0.003610	0	0
CROCC	9696	broad.mit.edu	37	1	17257788	17257788	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:17257788C>T	ENST00000375541.5	+	8	921	c.852C>T	c.(850-852)tcC>tcT	p.S284S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	284					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|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)|Lung(427;0.181)		CCCTCCAGTCCTTCAACGCCT	0.617000													49	50					0	0	0.003610	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958492	50958492	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:50958492C>T	ENST00000357701.5	+	19	2193	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	714	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCGTGTCTTCGCCGTCAATG	0.493000													41	45					0	0	0.002522	0	0
SCN10A	6336	broad.mit.edu	37	3	38760281	38760281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:38760281C>T	ENST00000449082.2	-	20	3543	c.3544G>A	c.(3544-3546)Gtg>Atg	p.V1182M		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1182					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)	AAAGCTTTCACCGTGGGCTTC	0.517000													19	21					0	0	0.001523	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301163	29301163	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:29301163A>C	ENST00000378993.1	+	3	864	c.191A>C	c.(190-192)tAc>tCc	p.Y64S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.Y64S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	64	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAACAAATTACTCCCTTGCC	0.423000													14	2					0	0	0.002450	0	0
SRRM4	84530	broad.mit.edu	37	12	119540077	119540077	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr12:119540077G>A	ENST00000267260.4	+	2	556	c.168G>A	c.(166-168)caG>caA	p.Q56Q	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	56					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						TCCCAGCTCAGGATGGACCCT	0.502000													10	18					0	0	0.008291	0	0
PLIN2	123	broad.mit.edu	37	9	19126422	19126422	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:19126422C>A	ENST00000276914.2	-	2	182	c.3G>T	c.(1-3)atG>atT	p.M1I	PLIN2_ENST00000411567.1_Start_Codon_SNP_p.M1I|PLIN2_ENST00000380465.3_Start_Codon_SNP_p.M1I|PLIN2_ENST00000380464.3_Start_Codon_SNP_p.M1I	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	1					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CAACGGATGCCATTTTTCTTC	0.418000													14	4					1.49906e-05	2.18245e-05	0.002450	1	0
COL4A6	1288	broad.mit.edu	37	X	107430342	107430342	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:107430342G>A	ENST00000334504.7	-	23	2168	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	COL4A6_ENST00000372216.4_Silent_p.G646G|COL4A6_ENST00000538570.1_Silent_p.G645G|COL4A6_ENST00000545689.1_Silent_p.G645G|COL4A6_ENST00000394872.2_Silent_p.G646G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	646	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCCGGGAAGGCCTTGTTGTC	0.512000									Alport syndrome with Diffuse Leiomyomatosis				143	32					0	0	0.003610	0	0
LNP1	348801	broad.mit.edu	37	3	100174679	100174679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:100174679C>T	ENST00000383693.3	+	4	1726	c.446C>T	c.(445-447)tCc>tTc	p.S149F	LNP1_ENST00000489752.1_Missense_Mutation_p.S162F	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	149										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GAGATAAAATCCCGAAAGAAA	0.438000													26	20					0	0	0.007291	0	0
KIAA1009	22832	broad.mit.edu	37	6	84896291	84896291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:84896291G>A	ENST00000403245.3	-	12	1274	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	KIAA1009_ENST00000257766.4_Missense_Mutation_p.P311L|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	387					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATCTTCAGGGGTAAAGAGCT	0.338000													30	8					0	0	0.006320	0	0
ZNF180	7733	broad.mit.edu	37	19	44981504	44981504	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:44981504G>A	ENST00000221327.4	-	5	1475	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	ZNF180_ENST00000391956.4_Silent_p.S373S|ZNF180_ENST00000592529.1_Silent_p.S371S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTCTCTGATGGGAAACAAGGT	0.443000													25	34					0	0	0.003330	0	0
GBA2	57704	broad.mit.edu	37	9	35740240	35740240	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr9:35740240T>C	ENST00000378094.4	-	7	1762	c.1249A>G	c.(1249-1251)Atc>Gtc	p.I417V	GBA2_ENST00000378103.3_Missense_Mutation_p.I417V|GBA2_ENST00000545786.1_Missense_Mutation_p.I423V|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	417					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAAACATGATCCTGGGCATG	0.552000													20	3					0	0	0.001523	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269600	185269600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:185269600G>A	ENST00000367498.3	-	11	1833	c.1211C>T	c.(1210-1212)cCa>cTa	p.P404L	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P186L|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	404					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TCGGGCTCTTGGTGTTCTCAT	0.428000													92	10					0	0	0.003610	0	0
TENM4	26011	broad.mit.edu	37	11	78440596	78440596	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:78440596G>A	ENST00000278550.7	-	22	3693	c.3231C>T	c.(3229-3231)atC>atT	p.I1077I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGGTGAGGCTGATCCTCAGGA	0.582000													9	15					0	0	0.006214	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530629	140530629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr5:140530629C>T	ENST00000231136.1	+	1	791	c.791C>T	c.(790-792)tCa>tTa	p.S264L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S128L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		264	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTACCGTCTCAGCCAGAGAT	0.488000													16	2					0	0	0.004007	0	0
PLCH1	23007	broad.mit.edu	37	3	155215191	155215191	+	Silent	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:155215191C>T	ENST00000460012.1	-	15	2079	c.1722G>A	c.(1720-1722)agG>agA	p.R574R	PLCH1_ENST00000340059.7_Silent_p.R592R|PLCH1_ENST00000334686.6_Silent_p.R574R|PLCH1_ENST00000447496.2_Silent_p.R592R|PLCH1_ENST00000414191.1_Silent_p.R574R|PLCH1_ENST00000494598.1_Silent_p.R592R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	592					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATGGTTTTCCTTCGGCGAC	0.463000													22	33					0	0	0.003954	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	51					0	0	0.004672	0	0
PSG4	5672	broad.mit.edu	37	19	43699306	43699306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:43699306C>T	ENST00000405312.3	-	4	1066	c.829G>A	c.(829-831)Ggt>Agt	p.G277S	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.G184S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	277	Ig-like C2-type 2.				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)				AGGCTCTGACCATTTAGCCAC	0.438000													103	129					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11650884	11650884	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:11650884G>A	ENST00000262442.3	+	32	6479	c.6411G>A	c.(6409-6411)ctG>ctA	p.L2137L	DNAH9_ENST00000454412.2_Silent_p.L2137L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2137	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGTCCAGCTGGAGGAGCTCC	0.582000													13	1					0	0	0.001855	0	0
SDPR	8436	broad.mit.edu	37	2	192701344	192701344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:192701344C>T	ENST00000304141.4	-	2	912	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	195						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGCAGGGTTTCCTCCAGGGAT	0.557000													17	25					0	0	0.006122	0	0
HTR3C	170572	broad.mit.edu	37	3	183773996	183773996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr3:183773996C>T	ENST00000318351.1	+	4	345	c.311C>T	c.(310-312)cCa>cTa	p.P104L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	104						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATTGGAACCCAAAAGAGTGT	0.507000													33	44					0	0	0.002096	0	0
C6orf57	135154	broad.mit.edu	37	6	71289239	71289239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:71289239G>A	ENST00000370474.3	+	2	211	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_145267.2	NP_660310.2	Q5VUM1	CF057_HUMAN	chromosome 6 open reading frame 57	63						extracellular region				kidney(1)|lung(1)|skin(1)	3						TGCACCAGAGGATTCCCATTT	0.383000													37	30					0	0	0.002222	0	0
MYO1E	4643	broad.mit.edu	37	15	59466433	59466433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr15:59466433G>A	ENST00000288235.4	-	20	2455	c.2056C>T	c.(2056-2058)Ctt>Ttt	p.L686F		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	686					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TCTTCTAAAAGAAATAGCTGT	0.438000													37	45					0	0	0.006230	0	0
SEMA3A	10371	broad.mit.edu	37	7	83675699	83675699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:83675699C>T	ENST00000265362.3	-	6	922	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	203	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCCAAGAGTTCGGAAGATAGC	0.428000													44	39					0	0	0.002522	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669709	122669709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:122669709C>T	ENST00000284273.5	+	10	1792	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	473	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity	p.R473C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCGTCCCTTCGCTGCGTTCA	0.428000													18	27					0	0	0.008871	0	0
ABCA13	154664	broad.mit.edu	37	7	48312755	48312755	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:48312755A>T	ENST00000435803.1	+	17	3516	c.3492A>T	c.(3490-3492)ttA>ttT	p.L1164F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1164					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						TATCTCAATTATTTAAGTTTG	0.378000													11	37					0	0	0.000978	0	0
PCDH15	65217	broad.mit.edu	37	10	55721526	55721526	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr10:55721526T>A	ENST00000373965.2	-	23	3410	c.3016A>T	c.(3016-3018)Aca>Tca	p.T1006S	PCDH15_ENST00000395430.1_Missense_Mutation_p.T999S|PCDH15_ENST00000395432.2_Missense_Mutation_p.T962S|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1006S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T999S|PCDH15_ENST00000409834.1_Missense_Mutation_p.T610S|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1004S|PCDH15_ENST00000395433.1_Missense_Mutation_p.T977S|PCDH15_ENST00000437009.1_Missense_Mutation_p.T928S|PCDH15_ENST00000320301.6_Missense_Mutation_p.T999S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.T999S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	999	Cadherin 9.				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)				AAAATTGTTGTAGGTTCTTCA	0.328000										HNSCC(58;0.16)			23	3					0	0	0.002780	0	0
POLD3	10714	broad.mit.edu	37	11	74340341	74340341	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:74340341C>G	ENST00000263681.2	+	9	1108	c.979C>G	c.(979-981)Cct>Gct	p.P327A	POLD3_ENST00000532497.1_Missense_Mutation_p.P221A|POLD3_ENST00000527458.1_Missense_Mutation_p.P288A	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	327					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AATCAAACTTCCTGAATCTGA	0.383000													18	31					0	0	0.006122	0	0
FGL2	10875	broad.mit.edu	37	7	76826009	76826009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:76826009C>T	ENST00000248598.5	-	2	939	c.907G>A	c.(907-909)Gat>Aat	p.D303N	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	303	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTTCAAGATCTATTCTCAGA	0.368000													30	34					0	0	0.001786	0	0
THSD1	55901	broad.mit.edu	37	13	52972045	52972045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:52972045G>A	ENST00000349258.4	-	3	887	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.P115S	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	115						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCCCACCAGGGGAATGGAGTG	0.502000													32	65					0	0	0.004878	0	0
CHDC2	286464	broad.mit.edu	37	X	36162701	36162701	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:36162701G>A	ENST00000378660.1	+	11	1472	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	CHDC2_ENST00000313548.4_Silent_p.K428K					calponin homology domain containing 2																		tgtttccaaaggagatggatg	0.468000													37	9					0	0	0.002222	0	0
IL27RA	9466	broad.mit.edu	37	19	14157020	14157020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr19:14157020C>T	ENST00000263379.2	+	7	948	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	275					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGTTGGAGGTCGTGAGCTGAG	0.577000													90	104					0	0	0.003610	0	0
TRBV19	28568	broad.mit.edu	37	7	142326460	142326460	+	RNA	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr7:142326460C>T	ENST00000390393.3	+	0	98																											ctcttcattccaGCCTCTGAC	0.512000													3	2					0	0	0.004672	0	0
GABRA3	2556	broad.mit.edu	37	X	151376545	151376545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chrX:151376545C>T	ENST00000370314.4	-	7	944	c.706G>A	c.(706-708)Gat>Aat	p.D236N	GABRA3_ENST00000370311.1_Missense_Mutation_p.D236N|GABRA3_ENST00000535043.1_Missense_Mutation_p.D236N	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	236					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)	CGAGAACCATCCTGTGCCACT	0.413000													43	5					0	0	0.003214	0	0
THSD7B	80731	broad.mit.edu	37	2	138421106	138421106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr2:138421106G>A	ENST00000409968.1	+	26	4790	c.4612G>A	c.(4612-4614)Gat>Aat	p.D1538N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D1510N|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1541N					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)		AAAAATACATGATATTTTTAA	0.363000													3	9					0	0	0.004672	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471508	61471508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr18:61471508G>A	ENST00000398019.2	+	8	1107	c.782G>A	c.(781-783)tGg>tAg	p.W261*	SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.W261*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.W244*|SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.W261*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	261					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)				CTAATGGAATGGACCAATCCA	0.318000													14	24					0	0	0.004007	0	0
ANKRD9	122416	broad.mit.edu	37	14	102973339	102973339	+	Silent	SNP	G	G	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr14:102973339G>A	ENST00000286918.4	-	4	1484	c.888C>T	c.(886-888)ccC>ccT	p.P296P	ANKRD9_ENST00000559651.1_Silent_p.P296P|ANKRD9_ENST00000560748.1_Silent_p.P296P	NM_152326.2	NP_689539.1	Q96BM1	ANKR9_HUMAN	ankyrin repeat domain 9	296										pancreas(1)|skin(1)	2						CCAGGGCCTCGGGGAAGCGGC	0.687000													4	13					0	0	0.000248	0	0
OR4A16	81327	broad.mit.edu	37	11	55110928	55110928	+	Silent	SNP	C	C	T	rs150328499		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr11:55110928C>T	ENST00000314721.2	+	1	302	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TAGACTTACTCTGTGATAAAA	0.453000													59	69					0	0	0.003610	0	0
PLCH2	9651	broad.mit.edu	37	1	2430086	2430087	+	Splice_Site	INS	-	-	GTGGGGGCC	rs142848828	by1000genomes	TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr1:2430086_2430087insGTGGGGGCC	ENST00000449969.1	+	17	2429	c.2268_splice	c.e17+1	p.E756_splice	PLCH2_ENST00000378488.3_Splice_Site_p.E747_splice|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Splice_Site_p.E783_splice|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Splice_Site_p.E783_splice			O75038	PLCH2_HUMAN	phospholipase C, eta 2	783	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E783_I784insVGA(1)|p.E630_I631insVGA(1)		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)		ACCGTGGGGAGGTGGGGGCCAG	0.703													4	6	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													4	4	---	---	---	---					
LINC00539	100652865	broad.mit.edu	37	13	21893925	21893926	+	RNA	INS	-	-	A			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr13:21893925_21893926insA	ENST00000434601.2	-	0	473					NR_103840.1																						CCACAGGCAAGATGTACGCCTT	0.550													10	16	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89347908	89347908	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr16:89347908delG	ENST00000301030.4	-	9	5502	c.5042delC	c.(5041-5043)gafs	p.A1681fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.A1681fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1681						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTGAGGGCCTGCCAGCCAGTC	0.592													66	18	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44115908	44115929	+	Frame_Shift_Del	DEL	GTGCTGGCTGTAACCTGTGAGC	GTGCTGGCTGTAACCTGTGAGC	-			TCGA-EE-A185-06A-11D-A196-08	TCGA-EE-A185-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d056645f-4dd3-49f3-b0a4-2293e2b4d82c	86e96814-fe03-47a8-8eb6-cdead9fe4f05	g.chr17:44115908_44115929delGTGCTGGCTGTAACCTGTGAGC	ENST00000262419.6	-	10	2986_3007	c.2516_2537delGCTCACAGGTTACAGCCAGCAC	c.(2515-2538)aafs	p.SSQVTAST839fs	KANSL1_ENST00000572904.1_Frame_Shift_Del_p.SSQVTAST839fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.SSQVTAST776fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.SSQVTAST839fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.SSQVTAST839fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.SSQVTAST133fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	839						MLL1 complex	protein binding										ACTTACCGATGTGCTGGCTGTAACCTGTGAGCTAGAGCTGGC	0.595													13	13	---	---	---	---