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
ZNF423	23090	broad.mit.edu	37	16	49671862	49671862	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:49671862C>T	ENST00000561648.1	-	4	1254	c.1201G>A	c.(1201-1203)Ggg>Agg	p.G401R	ZNF423_ENST00000562520.1_Missense_Mutation_p.G341R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G401R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G341R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G284R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G284R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G341R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	401					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGCCCTGCCCGTCATCCCGC	0.637000													16	22					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403001	248403001	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248403001C>T	ENST00000306687.1	+	1	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTATGTTCATGTACATGA	0.522000													29	48					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1522302	1522302	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:1522302G>A	ENST00000389470.4	-	28	4068	c.4069C>T	c.(4069-4071)Ccg>Tcg	p.P1357S	INTS1_ENST00000404767.3_Missense_Mutation_p.P1195S			Q8N201	INT1_HUMAN	integrator complex subunit 1	1195					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTCTCCTCCGGAAACCAGATG	0.637000													23	62					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058188	81058188	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:81058188A>C	ENST00000334512.5	+	15	2089	c.1517A>C	c.(1516-1518)aAt>aCt	p.N506T		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	506	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTGTGGCAAATTACCCCCAC	0.592000													45	115					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229858	154229858	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:154229858C>T	ENST00000428931.1	+	20	2557	c.2390C>T	c.(2389-2391)cCg>cTg	p.P797L	UBAP2L_ENST00000343815.6_Missense_Mutation_p.P797L|UBAP2L_ENST00000361546.2_Missense_Mutation_p.P797L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P808L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	797					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGTCCCGCCGTTGTTGCCT	0.473000													25	49					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24663366	24663366	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:24663366G>A	ENST00000396475.2	+	3	379	c.80G>A	c.(79-81)gGa>gAa	p.G27E	MPP6_ENST00000222644.4_Missense_Mutation_p.G27E|MPP6_ENST00000409761.1_Intron	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	27	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCCTCAAGGGAATTATGGAG	0.348000													8	36					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629276	1629276	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:1629276G>A	ENST00000399685.1	-	1	417	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	114	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GAGCCCCCACGAAATCCACAG	0.652000													34	56					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77931932	77931932	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:77931932C>T	ENST00000216479.3	+	6	772	c.612C>T	c.(610-612)atC>atT	p.I204I	AHSA1_ENST00000535854.2_Silent_p.I204I|AHSA1_ENST00000555457.1_Intron	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	204					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGTCAAAATCCCCACTTGTA	0.458000													14	41					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675968	62675968	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:62675968G>A	ENST00000498273.1	+	4	1817	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	508										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TAGACAAAAAGAAATTCCCTT	0.453000													9	25					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38289078	38289078	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:38289078G>A	ENST00000436911.2	-	0	95																											TTCTCAAGAAGACAAAGGTAT	0.403000													54	150					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058301	9058301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9058301C>T	ENST00000397910.4	-	3	29348	c.29145G>A	c.(29143-29145)tgG>tgA	p.W9715*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9717	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						GAGGGCTCGTCCATGACAGAC	0.468000													14	30					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115142865	115142865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:115142865G>A	ENST00000393274.1	-	15	2690	c.2065C>T	c.(2065-2067)Ctt>Ttt	p.L689F	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.L632F	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	689	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		CGCTCCAAAAGGAGAGAGGCA	0.403000													7	30					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32410715	32410715	+	Silent	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:32410715G>T	ENST00000332351.3	-	10	1727	c.1443C>A	c.(1441-1443)ccC>ccA	p.P481P	WT1_ENST00000530998.1_Silent_p.P252P|WT1_ENST00000448076.3_Silent_p.P478P|WT1_ENST00000379079.2_Silent_p.P266P	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	413					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GACAGCTGAAGGGCTTTTCAC	0.483000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				15	59					1.2644e-06	1.27759e-06	1	1	0
OR1L8	138881	broad.mit.edu	37	9	125330650	125330650	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:125330650T>C	ENST00000304865.2	-	1	188	c.107A>G	c.(106-108)tAc>tGc	p.Y36C		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGTGACCAGGTACACGATGAG	0.502000													23	60					0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167424307	167424307	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:167424307C>T	ENST00000366847.3	+	6	676	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.L149F	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	149					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ttaGGGTGCACTTGATCTATC	0.323000			T	FGFR1	"""MPD, NHL"""								3	11					0	0	1	0	0
SHISA2	387914	broad.mit.edu	37	13	26621093	26621093	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:26621093G>A	ENST00000319420.3	-	2	501	c.446C>T	c.(445-447)cCc>cTc	p.P149L		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	149					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GCTCTGCTGGGGATCCTGCTT	0.627000													9	41					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023577	6023577	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6023577G>A	ENST00000330728.4	-	1	847	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAACAATAAGGATAAGATCA	0.463000													5	22					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409623	159409623	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159409623C>T	ENST00000423932.3	+	1	112	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	25					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ACTTTGTTTTCCAAGGTTTCT	0.398000													23	83					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31674562	31674562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:31674562C>T	ENST00000295770.2	+	15	2532	c.2323C>T	c.(2323-2325)Cct>Tct	p.P775S		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	775					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AGTAAAAGCACCTGATAACAG	0.378000													8	34					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26173736	26173736	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:26173736G>A	ENST00000335473.7	+	8	2306	c.2056G>A	c.(2056-2058)Ggc>Agc	p.G686S	MYO18B_ENST00000536101.1_Missense_Mutation_p.G686S|MYO18B_ENST00000407587.2_Missense_Mutation_p.G686S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	686	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGTGTGGATGGCAGGGTCTC	0.582000													26	55					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137798460	137798460	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:137798460G>A	ENST00000242375.3	+	8	922	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	AKR1D1_ENST00000411726.2_Missense_Mutation_p.E253K|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	294					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTCACTGAAGAAGAAATGAA	0.408000													12	32					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6424635	6424635	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6424635C>T	ENST00000389906.2	-	5	1054		c.e5-1		APBB1_ENST00000533407.1_Splice_Site|APBB1_ENST00000530885.1_Splice_Site|APBB1_ENST00000311051.3_Splice_Site|APBB1_ENST00000299402.6_Splice_Site	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGGGTTCATCCTTGGGAAGGG	0.547000													17	36					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022610	20022610	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:20022610C>T	ENST00000440926.1	-	10	1337	c.867G>A	c.(865-867)aaG>aaA	p.K289K	SLC18A1_ENST00000437980.1_Silent_p.K289K|SLC18A1_ENST00000519026.1_Silent_p.K289K|SLC18A1_ENST00000381608.4_Silent_p.K289K|SLC18A1_ENST00000265808.7_Silent_p.K289K|SLC18A1_ENST00000276373.5_Silent_p.K289K	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	289					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GGGGAGTCCCCTTGGCACTCT	0.468000													28	55					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603324	48603324	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:48603324C>T	ENST00000323776.5	+	14	2156	c.1994C>T	c.(1993-1995)gCc>gTc	p.A665V	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A628V	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	628					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCTGAGGAGGCCAGGCCAGGG	0.592000													27	103					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707028	96707028	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:96707028C>T	ENST00000542454.2	+	3	3370	c.282C>T	c.(280-282)ttC>ttT	p.F94F	BDKRB2_ENST00000554311.1_Silent_p.F121F|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.F121F|BDKRB2_ENST00000539359.1_Silent_p.F94F			P30411	BKRB2_HUMAN	bradykinin receptor B2	121					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	p.F121F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCAACAACTTCGACTGGCTCT	0.592000													50	126					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258728	56258728	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:56258728C>T	ENST00000327216.2	-	1	143	c.119G>A	c.(118-120)gGg>gAg	p.G40E		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCAAGGTTCCCTGCCACCGT	0.517000													28	106					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231254715	231254715	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:231254715T>A	ENST00000243810.6	+	11	941	c.941T>A	c.(940-942)tTa>tAa	p.L314*	SP140L_ENST00000396563.4_Intron|SP140L_ENST00000444636.1_Nonsense_Mutation_p.L314*|SP140L_ENST00000415673.2_Nonsense_Mutation_p.L314*			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	314	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAGGGAATTTTACATAAGGAG	0.398000													23	11					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814205	60814205	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:60814205G>A	ENST00000544856.2	-	7	1399	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.H342Y|MARCH10_ENST00000311269.5_Missense_Mutation_p.H342Y|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.H380Y			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	342							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTTGAAGAATGACCTCTGCAA	0.458000													127	82					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11608463	11608463	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:11608463G>A	ENST00000262442.3	+	26	5581	c.5513G>A	c.(5512-5514)gGa>gAa	p.G1838E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G1838E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1838	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGTACCTGGGAAACACACCT	0.527000													17	39					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873375	173873375	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:173873375C>T	ENST00000506823.1	+	10	1994	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P429L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	446						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AAATACTACCCTCCAGTGGAG	0.602000													10	12					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923857	2923857	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:2923857C>T	ENST00000254695.8	+	19	1809	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	RAP1GAP2_ENST00000540393.2_Silent_p.G554G|RAP1GAP2_ENST00000366401.4_Silent_p.G558G|RAP1GAP2_ENST00000542807.1_Silent_p.G573G	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	573					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGCACACGGGCTCAGAAGGCC	0.632000													4	14					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21205109	21205109	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:21205109G>A	ENST00000381541.3	+	10	1476	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E471K|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E424K																							AAGTCAATGGGAACCCGTCTG	0.373000													27	50					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35870329	35870329	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:35870329C>T	ENST00000377981.2	-	1	132	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGATGCTCCAGGGCTGGG	0.557000													9	32					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652992	1652992	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:1652992C>T	ENST00000252804.4	-	17	2610	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	854					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGGGGGGGTCGTTGCTGCAC	0.672000													4	19					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070196	141070196	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:141070196C>T	ENST00000503395.1	+	0	1276																											GGTGCGGCTCCTTAGCCAGGG	0.642000													4	10					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150710649	150710649	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:150710649G>C	ENST00000344419.3	+	2	480	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	IYD_ENST00000392256.2_Missense_Mutation_p.E114Q|IYD_ENST00000392255.3_Missense_Mutation_p.E114Q|IYD_ENST00000229447.5_Missense_Mutation_p.E114Q|IYD_ENST00000425615.3_Missense_Mutation_p.E59Q|IYD_ENST00000500320.3_Missense_Mutation_p.E114Q	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	114					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGTCCCAATGGAAGTCATTGA	0.403000													19	54					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179526234	179526234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:179526234C>T	ENST00000367615.4	-	5	734	c.666G>A	c.(664-666)atG>atA	p.M222I	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	222					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGAGACGCTTCATAGTGGTTT	0.428000													8	22					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201924	140201924	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140201924G>A	ENST00000529859.1	+	1	564	c.564G>A	c.(562-564)acG>acA	p.T188T	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.T188T|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.T188T	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAGAAACGAACTTTTTAG	0.363000													12	35					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357656	114357656	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:114357656C>T	ENST00000317135.8	-	18	1979	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	LRCH2_ENST00000538422.1_Missense_Mutation_p.R633Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	650	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GCGAAGTTGTCGTATTTGCTC	0.413000													8	5					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495658	161495658	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:161495658G>A	ENST00000309758.4	+	1	1623	c.1210G>A	c.(1210-1212)Ggg>Agg	p.G404R		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	404					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTGTCTCTGGGGCTGGAGAC	0.597000													5	32					0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079521	122079521	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:122079521C>T	ENST00000330079.7	+	2	1077	c.884C>T	c.(883-885)cCc>cTc	p.P295L		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	293					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GGGGACCACCCCCTGACGCCC	0.622000													17	46					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400425	10400425	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:10400425C>T	ENST00000397077.1	-	13	2526	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E651K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E696K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E696K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E682K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	696					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGTGAGTTCGTTGAGGATG	0.657000													14	39					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44109529	44109529	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:44109529G>A	ENST00000267812.3	-	2	429	c.197C>T	c.(196-198)gCc>gTc	p.A66V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	66						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTGTTCTTTGGCTTTCTTAAT	0.473000													30	82					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7558930	7558930	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7558930G>A	ENST00000250111.4	+	6	1102	c.695G>A	c.(694-696)gGc>gAc	p.G232D		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	232					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CCCTACTATGGCAAAAAGTTC	0.607000													13	41					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28224093	28224093	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:28224093C>T	ENST00000305242.5	-	16	2433	c.2341G>A	c.(2341-2343)Gga>Aga	p.G781R	ARMC4_ENST00000537576.1_Missense_Mutation_p.G473R|ARMC4_ENST00000545014.1_Missense_Mutation_p.G306R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	781							binding	p.G781R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGCATTCTCCCAAGGCCCCA	0.458000													27	56					0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201383661	201383661	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:201383661G>A	ENST00000361379.4	-	5	266	c.174C>T	c.(172-174)tcC>tcT	p.S58S	TNNI1_ENST00000336092.4_Silent_p.S58S|TNNI1_ENST00000367312.1_Silent_p.S58S|TNNI1_ENST00000555948.1_Silent_p.S58S	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	58					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GGGCACTGAGGGACAGGCCAC	0.687000													3	20					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44109528	44109528	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:44109528G>A	ENST00000267812.3	-	2	430	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	66						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTTGTTCTTTGGCTTTCTTAA	0.473000													31	84					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178504079	178504079	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178504079A>G	ENST00000315475.6	+	4	468	c.162A>G	c.(160-162)ccA>ccG	p.P54P		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAGGGATTCCATTTTCAATGC	0.443000													12	24					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453564	74453564	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:74453564G>A	ENST00000307439.5	-	5	669	c.375C>T	c.(373-375)tcC>tcT	p.S125S	RASSF6_ENST00000342081.3_Silent_p.S157S|RASSF6_ENST00000395777.2_Silent_p.S125S|RASSF6_ENST00000335049.5_Silent_p.S113S	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	157					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GACCTTCCTGGGAATTCCTTT	0.368000													15	49					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373653	7373653	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:7373653C>T	ENST00000502583.1	-	5	1963	c.1399G>A	c.(1399-1401)Gct>Act	p.A467T	CAGE1_ENST00000379918.4_Missense_Mutation_p.A467T|CAGE1_ENST00000338150.4_Missense_Mutation_p.A467T|CAGE1_ENST00000296742.7_Missense_Mutation_p.A331T|CAGE1_ENST00000512086.1_Missense_Mutation_p.A467T	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	467										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AAAGCAGAAGCTGTGGCCTTT	0.398000													18	57					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117706953	117706953	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:117706953C>T	ENST00000368508.3	-	15	2395	c.2197G>A	c.(2197-2199)Ggg>Agg	p.G733R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G728R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	733					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATATCCGTCCCATTCAGCAGC	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	41					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532887	113532887	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:113532887G>A	ENST00000257600.3	+	7	1930	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	476					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCCATCTACGGGGAGAAGACG	0.647000													15	25					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128725193	128725193	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:128725193C>T	ENST00000296464.3	+	8	1347	c.936C>T	c.(934-936)tcC>tcT	p.S312S	HSPA4L_ENST00000508776.1_Silent_p.S312S|HSPA4L_ENST00000505726.1_Silent_p.S286S|HSPA4L_ENST00000439123.2_Silent_p.S343S	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	312					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGTGTGCTTCCCTTTTGGCCA	0.358000													11	43					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362651	10362651	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10362651C>T	ENST00000255381.2	-	15	1614	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	502	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTACTCTTCCTGCTCCAGC	0.488000													23	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179552860	179552860	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179552860T>C	ENST00000589042.1	-	127	32513	c.32289A>G	c.(32287-32289)gaA>gaG	p.E10763E	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.E9519E|TTN_ENST00000591111.1_Silent_p.E10446E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10446	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACCTCTGCTTCTTCCTCCT	0.393000													64	45					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585721	189585721	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:189585721G>A	ENST00000264731.3	+	7	1071	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	TP63_ENST00000440651.2_Missense_Mutation_p.E328K|TP63_ENST00000437221.1_Missense_Mutation_p.E234K|TP63_ENST00000392463.2_Missense_Mutation_p.E234K|TP63_ENST00000449992.1_Missense_Mutation_p.E149K|TP63_ENST00000392461.3_Missense_Mutation_p.E234K|TP63_ENST00000418709.2_Missense_Mutation_p.E328K|TP63_ENST00000392460.3_Missense_Mutation_p.E328K|TP63_ENST00000354600.5_Missense_Mutation_p.E234K|TP63_ENST00000456148.1_Missense_Mutation_p.E234K|TP63_ENST00000320472.5_Missense_Mutation_p.E328K|TP63_ENST00000382063.4_Missense_Mutation_p.E243K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	328					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E328*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTACTCTGGAAACCAGAGA	0.408000										HNSCC(45;0.13)			8	17					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451835	29451835	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:29451835C>T	ENST00000389048.3	-	16	3636	c.2730G>A	c.(2728-2730)atG>atA	p.M910I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	910	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCACTTCTTCATGGCCTGGG	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	28					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257122	140257122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140257122C>T	ENST00000398631.2	+	1	2065	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTGGATCCCGAAGCGGC	0.652000													13	39					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62132152	62132152	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:62132152G>A	ENST00000433197.2	-	14	1804	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	570					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGGACAGAAGGAAATTTTCCC	0.488000													3	23					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245091	46245091	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:46245091G>A	ENST00000296140.3	-	2	839	c.714C>T	c.(712-714)gtC>gtT	p.V238V	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	238					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAATCAAACGGACAGCTTTGG	0.388000													22	19					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64427964	64427964	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:64427964G>A	ENST00000265459.6	-	11	2690	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	NRXN2_ENST00000377551.1_Silent_p.I743I|NRXN2_ENST00000377559.3_Silent_p.I712I|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Silent_p.I736I	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	743	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TAGGCAGCATGATCTTCATGT	0.602000													15	32					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062652	73062652	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:73062652G>A	ENST00000429829.1	-	0	9936					NR_001564.2																						AGGGCAGAGGGAAGGGAAGAG	0.483000													22	15					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48049680	48049680	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:48049680C>T	ENST00000311798.1	-	7	530	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	SSX5_ENST00000376923.1_Missense_Mutation_p.E119K|SSX5_ENST00000347757.1_Missense_Mutation_p.E119K	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCATTTCCTTCCTCTGCTGGC	0.443000													50	40					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32021274	32021274	+	Silent	SNP	C	C	T	rs56407830		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:32021274C>T	ENST00000375244.3	-	25	8883	c.8682G>A	c.(8680-8682)gaG>gaA	p.E2894E	TNXB_ENST00000375247.2_Silent_p.E2892E			P22105	TENX_HUMAN	tenascin XB	2941	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGACCCCGTCCTCGTGCCCCG	0.637000													149	633					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242683189	242683189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:242683189C>T	ENST00000321264.4	+	5	852	c.643C>T	c.(643-645)Cga>Tga	p.R215*	D2HGDH_ENST00000537090.1_Nonsense_Mutation_p.R215*|D2HGDH_ENST00000403782.1_Nonsense_Mutation_p.R81*|D2HGDH_ENST00000342518.6_Nonsense_Mutation_p.R215*	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	215	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCGGTTTCTTCGATATGGCTC	0.627000													4	18					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631770	156631770	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:156631770C>T	ENST00000296518.7	+	6	662	c.453C>T	c.(451-453)atC>atT	p.I151I	GUCY1A3_ENST00000511507.1_Silent_p.I151I|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Silent_p.I151I|GUCY1A3_ENST00000511108.1_Silent_p.I151I|GUCY1A3_ENST00000513574.1_Silent_p.I151I|GUCY1A3_ENST00000455639.2_Silent_p.I151I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	151				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.I151I(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGAAAACATCCTTGGGGTGG	0.418000													17	33					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436040	5436040	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:5436040C>T	ENST00000380419.3	-	4	818	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	TUBAL3_ENST00000479328.1_Missense_Mutation_p.E221K	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	261					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTCTGGAATTCAATTAGGTCT	0.507000													40	105					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98416637	98416637	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:98416637G>A	ENST00000339364.5	-	3	604	c.485C>T	c.(484-486)tCc>tTc	p.S162F	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	162						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTTCGAGTAGGAAACAACCTT	0.572000													18	33					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45668927	45668927	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:45668927T>C	ENST00000270172.3	-	11	1460	c.977A>G	c.(976-978)aAc>aGc	p.N326S	DNMT3L_ENST00000418993.1_Missense_Mutation_p.N326S	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	326					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGCTGGGATGTTGCTCCACAC	0.612000													10	9					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147465992	147465992	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:147465992G>A	ENST00000359874.3	+	5	380	c.307G>A	c.(307-309)Gga>Aga	p.G103R	SPINK5_ENST00000256084.7_Missense_Mutation_p.G103R|SPINK5_ENST00000398454.1_Missense_Mutation_p.G103R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	103	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTAAAAAAGGAGAAAGAGA	0.343000													24	34					0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27320460	27320460	+	Silent	SNP	C	C	T	rs148222785	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:27320460C>T	ENST00000260599.6	+	5	1020	c.507C>T	c.(505-507)tcC>tcT	p.S169S	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Silent_p.S169S	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	169					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	p.S169S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGGTGTCCGTGGAGGTGG	0.592000													15	62					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959761	157959761	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:157959761G>A	ENST00000389413.3	-	6	875	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	PTPRN2_ENST00000404321.2_Missense_Mutation_p.P281S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P241S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P258S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P220S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	258						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCCTCCCCGGGGGGAGCTGGG	0.657000													5	15					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55185828	55185828	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:55185828G>A	ENST00000396834.1	+	8	1076	c.580G>A	c.(580-582)Gat>Aat	p.D194N	IL31RA_ENST00000447346.2_Missense_Mutation_p.D213N|IL31RA_ENST00000359040.5_Missense_Mutation_p.D213N|IL31RA_ENST00000354961.4_Missense_Mutation_p.D194N|IL31RA_ENST00000396836.2_Missense_Mutation_p.D213N|IL31RA_ENST00000297015.3_Missense_Mutation_p.D71N|IL31RA_ENST00000490985.1_Missense_Mutation_p.D71N	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	181	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GAACCGTAAGGATAAAAACCA	0.453000													15	31					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534629	13534629	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:13534629C>T	ENST00000341083.3	-	5	959	c.663G>A	c.(661-663)ctG>ctA	p.L221L	BEND7_ENST00000396898.2_Silent_p.L286L|BEND7_ENST00000396900.2_Silent_p.L273L|BEND7_ENST00000378605.3_Silent_p.L234L	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	273							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AAGGTGATTCCAGAACAATGC	0.473000													33	79					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21550134	21550134	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:21550134G>A	ENST00000425654.2	+	11	1732	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E418K|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E418K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E369K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	418	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTATGAATATGAAAAAGGAAG	0.338000													34	25					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155604733	155604733	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:155604733C>T	ENST00000297261.2	-	1	234	c.84G>A	c.(82-84)agG>agA	p.R28R		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	28					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCGAACCCCCTGCCCGGTC	0.612000													25	82					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76540072	76540072	+	Missense_Mutation	SNP	G	G	A	rs141150806	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:76540072G>A	ENST00000389840.5	-	17	2523	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L	DNAH17_ENST00000585328.1_Missense_Mutation_p.S800L					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)			CGGGTTGGCCGACCAGTCCTG	0.493000													27	97					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57724951	57724951	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:57724951T>A	ENST00000269122.3	+	3	717	c.443T>A	c.(442-444)cTt>cAt	p.L148H	CLTC_ENST00000393043.1_Missense_Mutation_p.L148H|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	148	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATTCTAGCCTTGCAGGGTGC	0.388000			T	"""ALK, TFE3"""	"""ALCL, renal """								21	87					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304474	114304474	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:114304474C>T	ENST00000309235.5	+	6	1417	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CGGAAAGATTCATGTCAAGAA	0.383000													28	60					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215568	140215568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140215568C>T	ENST00000525929.1	+	1	1600	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.Q534*|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGCAGTTCCAGGTGAGCGC	0.682000													33	130					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143795941	143795941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:143795941C>T	ENST00000367591.4	+	9	829	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	256					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		ACTTTCTCCTCGAGACATTAC	0.333000													17	36					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081249	143081249	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:143081249G>A	ENST00000367603.2	-	9	6918	c.6176C>T	c.(6175-6177)tCa>tTa	p.S2059L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2059L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S2059L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2059	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCTCTTTGGTGAATTATCTCG	0.473000													30	51					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277348	186277348	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:186277348G>A	ENST00000445192.2	+	7	2542	c.2497G>A	c.(2497-2499)Gag>Aag	p.E833K	PRG4_ENST00000367484.3_Splice_Site_p.E362_splice|PRG4_ENST00000367486.3_Missense_Mutation_p.E790K|PRG4_ENST00000367485.4_Missense_Mutation_p.E740K|PRG4_ENST00000367483.4_Missense_Mutation_p.E792K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	833	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TACCCCCAAGGAGCCTGCACC	0.582000													55	140					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242341	126242341	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:126242341C>T	ENST00000394329.3	+	1	4788	c.4775C>T	c.(4774-4776)cCt>cTt	p.P1592L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1592	Cadherin 15.				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						GCGTTGGTGCCTTCACAGTTG	0.453000													37	88					0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18770639	18770639	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:18770639C>T	ENST00000268835.2	+	4	447	c.164C>T	c.(163-165)cCt>cTt	p.P55L	PRPSAP2_ENST00000536323.1_Intron|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.P55L|PRPSAP2_ENST00000419071.2_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	55					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TACCAGGAACCTAACAGAGGT	0.443000													18	40					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341706	157341706	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:157341706T>C	ENST00000389413.3	-	21	2926	c.2823A>G	c.(2821-2823)aaA>aaG	p.K941K	PTPRN2_ENST00000404321.2_Silent_p.K993K|PTPRN2_ENST00000389416.4_Silent_p.K953K|PTPRN2_ENST00000389418.4_Silent_p.K970K|PTPRN2_ENST00000409483.1_Silent_p.K932K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	970	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TATCAATCTCTTTAGCACCTG	0.547000													20	62					0	0	1	0	0
TLX1	3195	broad.mit.edu	37	10	102896658	102896658	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:102896658G>A	ENST00000370196.6	+	3	3023	c.981G>A	c.(979-981)tcG>tcA	p.S327S	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	327						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGGTGGCGTCGGCCTGCGAGT	0.647000			T	"""TRB@, TRD@"""	T-ALL								12	21					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170593060	170593060	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:170593060G>A	ENST00000366756.3	-	9	1640	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	436	EGF-like 6.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTGCCTCCCCGAGAAGCCGGC	0.642000													4	6					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23319537	23319537	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:23319537A>G	ENST00000298032.5	+	17	2142	c.2058A>G	c.(2056-2058)ggA>ggG	p.G686G	ARMC3_ENST00000376528.4_Silent_p.G423G|ARMC3_ENST00000409983.3_Silent_p.G679G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	686							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						aaagcaaaggaaaaaaagaag	0.388000													7	8					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856581	62856581	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:62856581C>T	ENST00000584306.1	-	11	4213	c.3683G>A	c.(3682-3684)gGa>gAa	p.G1228E	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.G266E|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.G205E|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.G346E|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.G1228E	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1228						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GACGGCGTTTCCCGCTAACTT	0.572000													44	95					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962043	73962043	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:73962043C>T	ENST00000373468.1	-	3	3000	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K	KIAA2022_ENST00000055682.5_Silent_p.K783K			Q5QGS0	K2022_HUMAN	KIAA2022	783					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGTGGAACTCTTAGCAGCCT	0.408000													33	26					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71862934	71862934	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:71862934G>A	ENST00000377245.4	+	19	2882	c.2674G>A	c.(2674-2676)Ggg>Agg	p.G892R	TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000453658.2_Missense_Mutation_p.G869R|TJP2_ENST00000265384.7_Missense_Mutation_p.G892R|TJP2_ENST00000535702.1_Missense_Mutation_p.G896R|TJP2_ENST00000539225.1_Missense_Mutation_p.G923R|TJP2_ENST00000348208.4_Missense_Mutation_p.G892R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	892					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTAGATGGAAGGGATGGATGA	0.547000													20	62					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041378	234041378	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:234041378G>A	ENST00000366618.3	+	2	302	c.157G>A	c.(157-159)Gat>Aat	p.D53N		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GATTAAGGAGGATCTGAAATG	0.627000													12	49					0	0	1	0	0
YDJC	150223	broad.mit.edu	37	22	21982815	21982815	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:21982815C>T	ENST00000292778.6	-	5	913	c.864G>A	c.(862-864)caG>caA	p.Q288Q	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	288					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					GCACGCCATCCTGGGCAAGCT	0.687000													9	36					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692623	20692623	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20692623G>A	ENST00000315519.2	+	1	833	c.755G>A	c.(754-756)cGa>cAa	p.R252Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GGTGCTGGTCGAACTAAAGCT	0.483000													7	25					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220247898	220247898	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220247898G>A	ENST00000273075.4	-	10	1111	c.891C>T	c.(889-891)gcC>gcT	p.A297A	DNPEP_ENST00000523282.1_Silent_p.A305A|DNPEP_ENST00000373972.1_Silent_p.A222A	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	287					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GAGGCTCTGTGGCCAGGGAGC	0.572000													32	24					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706118	30706118	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:30706118G>A	ENST00000256246.2	-	1	490	c.416C>T	c.(415-417)cCt>cTt	p.P139L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	139										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTATTGGGAGGTATACAGTC	0.408000													21	56					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325116	162325116	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:162325116G>A	ENST00000361897.5	+	7	1137	c.735G>A	c.(733-735)aaG>aaA	p.K245K	NOS1AP_ENST00000530878.1_Silent_p.K240K	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	245					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGTAGGGAAGGAAGGAGGCT	0.557000													19	69					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661034	40661034	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:40661034C>T	ENST00000267889.3	+	8	2808	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	907					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCTACAATTCCAGACCAACT	0.612000													7	40					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229506	7229506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:7229506C>T	ENST00000379938.2	+	10	1711	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q392*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q392*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q392*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	392					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGCAATTCAGCTCCAGAC	0.622000													19	27					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228548271	228548271	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:228548271C>T	ENST00000284548.11	+	81	19752	c.19678C>T	c.(19678-19680)Cgg>Tgg	p.R6560W	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3679W			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7581	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCCGGCTCGGCCTGTGGG	0.672000													6	15					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542042	133542042	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:133542042G>A	ENST00000409261.1	-	14	2715	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S781L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	781							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACTCTGGCATGATATATTGTG	0.453000													58	57					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154519928	154519928	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:154519928G>A	ENST00000368482.4	+	12	1834	c.996G>A	c.(994-996)ggG>ggA	p.G332G	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Silent_p.G332G	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	332							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCAAAGGGAAAATCACTG	0.527000													28	58					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151791433	151791433	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:151791433C>T	ENST00000434507.1	+	4	558	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Missense_Mutation_p.P41S|GALNT11_ENST00000415421.1_Missense_Mutation_p.P41S|GALNT11_ENST00000320311.2_Missense_Mutation_p.P41S|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000422997.2_Missense_Mutation_p.P41S			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	41						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TAAGAATGTGCCCGTCAAGGG	0.473000													4	131					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30950108	30950108	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:30950108C>T	ENST00000383096.3	-	6	436	c.254G>A	c.(253-255)aGc>aAc	p.S85N	CCDC178_ENST00000579916.1_Missense_Mutation_p.S85N|CCDC178_ENST00000406524.2_Missense_Mutation_p.S85N|CCDC178_ENST00000579947.1_Missense_Mutation_p.S85N|CCDC178_ENST00000583930.1_Missense_Mutation_p.S85N|CCDC178_ENST00000300227.8_Missense_Mutation_p.S85N|CCDC178_ENST00000403303.1_Missense_Mutation_p.S85N|CCDC178_ENST00000402325.1_Missense_Mutation_p.S85N					coiled-coil domain containing 178																		TACGGCACAGCTGTGACGTCG	0.373000													7	31					0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65558956	65558956	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:65558956G>A	ENST00000261888.6	-	3	908	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	155	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TTTTCTAGGCGGCTACCATGA	0.488000													19	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084542	9084542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9084542C>T	ENST00000397910.4	-	1	7476	c.7273G>A	c.(7273-7275)Gcc>Acc	p.A2425T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2425	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A2425T(2)		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						GGAGAGGTGGCTGTATTTGTC	0.502000													11	25					0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54757240	54757240	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:54757240G>A	ENST00000551809.1	-	1	1031	c.396C>T	c.(394-396)ttC>ttT	p.F132F	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.F132F			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCTTGGCACTGAAAACTTGGG	0.547000													8	29					0	0	1	0	0
TSPAN16	26526	broad.mit.edu	37	19	11409563	11409563	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11409563G>C	ENST00000316737.1	+	3	433	c.283G>C	c.(283-285)Gtt>Ctt	p.V95L	TSPAN16_ENST00000592955.1_Intron|TSPAN16_ENST00000590327.1_Missense_Mutation_p.V95L	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	95						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CCTGTCAATGGTTATTGTCCT	0.512000													19	71					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845850	123845850	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:123845850G>A	ENST00000369005.1	+	4	4175	c.3835G>A	c.(3835-3837)Gaa>Aaa	p.E1279K	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E1279K|TACC2_ENST00000453444.2_Missense_Mutation_p.E1279K|TACC2_ENST00000515273.1_Missense_Mutation_p.E1279K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E1279K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1279						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACTTGCCTTGGAAAATGCTGC	0.602000													13	35					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26570684	26570684	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:26570684C>T	ENST00000252992.4	+	3	214	c.83C>T	c.(82-84)tCc>tTc	p.S28F	CEP85_ENST00000451429.2_Intron	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	28						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AAGGGCAGTTCCCTGGGGACT	0.507000													5	12					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155222393	155222393	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:155222393C>T	ENST00000460012.1	-	13	1922	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	PLCH1_ENST00000447496.2_Missense_Mutation_p.G540E|PLCH1_ENST00000414191.1_Missense_Mutation_p.G522E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G540E|PLCH1_ENST00000494598.1_Missense_Mutation_p.G540E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G522E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	540					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)			TGATTTCTTTCCACTTTCCTT	0.318000													17	57					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52615459	52615459	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:52615459C>T	ENST00000493422.1	-	7	740	c.585G>A	c.(583-585)aaG>aaA	p.K195K		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	195	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GTAGAAACTTCTTCACTGTGG	0.453000													25	86					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657228	143657228	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143657228C>T	ENST00000392899.1	+	1	202	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACAGCCGACTCCACACTCCCA	0.512000													62	150					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088300	17088300	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:17088300G>A	ENST00000443236.1	-	15	1808	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	546						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACGGCCAGATGAAGAGAGGTC	0.587000													9	38					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208489	106208489	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:106208489G>A	ENST00000390548.2	-	0	410																											CAGGGGTCCGGGAGATCATGA	0.592000													34	78					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72228148	72228148	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:72228148G>A	ENST00000582365.1	+	3	298	c.232G>A	c.(232-234)Gat>Aat	p.D78N	CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.D121N			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	121					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACTGGGGAGCGATCCCACGAA	0.572000													41	88					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34258094	34258094	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:34258094C>T	ENST00000373381.4	-	11	1656	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	CSMD2_ENST00000338325.1_Missense_Mutation_p.E102K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	454	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGCCCCTCTCCAAATCAAAC	0.552000													24	38					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213342	21213342	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21213342G>A	ENST00000574002.1	-	13	1772	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.F430F|ZP2_ENST00000574091.1_Silent_p.F430F			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	430	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TATCATCTTCGAACTTAAATG	0.403000													24	47					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75673967	75673967	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:75673967G>A	ENST00000394947.3	-	18	3589	c.3275C>T	c.(3274-3276)cCt>cTt	p.P1092L	SIN3A_ENST00000360439.4_Missense_Mutation_p.P1092L|SIN3A_ENST00000394949.4_Missense_Mutation_p.P1092L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1092					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCTTCCACAGGGTCATCCGA	0.512000													54	112					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062658	194062658	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:194062658G>A	ENST00000323830.3	-	2	863	c.774C>T	c.(772-774)ctC>ctT	p.L258L	CPN2_ENST00000429275.1_Silent_p.L258L	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	258					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAAAGATGGAGAGCGGCAGGT	0.607000													15	50					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521388	131521388	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131521388G>A	ENST00000423981.1	+	2	1853	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	AMER3_ENST00000321420.4_Silent_p.E581E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TCGCCGGAGAGAGCAAGGCCC	0.652000													11	43					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112270049	112270049	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:112270049C>T	ENST00000357260.5	-	2	616	c.435G>A	c.(433-435)ttG>ttA	p.L145L	FAM212B_ENST00000444059.2_Silent_p.L130L|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	145										cervix(1)|endometrium(1)	2						CCCGGGACATCAACGTGGAGG	0.587000													17	35					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	648636	648636	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:648636C>T	ENST00000255622.6	+	6	994	c.951C>T	c.(949-951)atC>atT	p.I317I	RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000429163.2_Silent_p.I38I|PDE6B_ENST00000496514.1_Silent_p.I317I|RP11-1191J2.2_ENST00000468356.1_RNA	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	317	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACAAAGTGATCGACTACGTCC	0.577000													15	67					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905976	5905976	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5905976G>A	ENST00000316987.2	+	1	476	c.454G>A	c.(454-456)Gga>Aga	p.G152R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGTTGTTGGAAGAAATTT	0.463000													27	69					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906504	129906504	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:129906504C>T	ENST00000368654.3	-	13	3975	c.3600G>A	c.(3598-3600)ctG>ctA	p.L1200L	MKI67_ENST00000368653.3_Silent_p.L840L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1200	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGTTCCTGCCAGGTCCAGTT	0.502000													53	108					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110527	151110527	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:151110527A>G	ENST00000341697.3	-	9	2293	c.602T>C	c.(601-603)gTt>gCt	p.V201A				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	201	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTCTGTAAACTACAGCATC	0.622000													25	39					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740546	32740546	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:32740546T>C	ENST00000421745.2	+	55	11192	c.11058T>C	c.(11056-11058)atT>atC	p.I3686I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3686					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A3656fs*3(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGCTCCTATTCTTAGGTTTT	0.418000													10	22					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47189579	47189579	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:47189579G>A	ENST00000524782.1	-	12	1314	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	ARFGAP2_ENST00000319543.6_Silent_p.P93P|ARFGAP2_ENST00000426335.2_Silent_p.P226P|ARFGAP2_ENST00000419701.2_Silent_p.P255P|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	362	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTAAGGAAAAGGGATTGTCCT	0.517000													15	33					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128127	6128127	+	Missense_Mutation	SNP	G	G	A	rs149424724	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:6128127G>A	ENST00000261405.5	-	28	4711	c.4457C>T	c.(4456-4458)tCg>tTg	p.S1486L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1486					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.S1486L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCCAGGGTCGAAACCCCCAA	0.592000													5	27					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15265016	15265016	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:15265016C>T	ENST00000253693.2	+	6	926	c.673C>T	c.(673-675)Cct>Tct	p.P225S		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	225					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGAATATGTTCCTTTCATGAA	0.318000													16	57					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399321	10399321	+	Silent	SNP	G	G	A	rs145122906		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10399321G>A	ENST00000226207.5	-	35	5209	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1705						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1705I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTGTTCTGCGATTTTCCTGC	0.532000													13	35					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5751693	5751693	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:5751693C>T	ENST00000381624.3	+	12	1084	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	341						integral to membrane											AAGACGTGGCCCTGATGTTCA	0.433000													13	23					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:20033087G>A	ENST00000377340.2	-	2	414	c.383C>T	c.(382-384)tCc>tTc	p.S128F	CRNKL1_ENST00000536226.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.S116F	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000													29	57					0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002686	6002686	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:6002686C>T	ENST00000244766.2	-	2	317	c.100G>A	c.(100-102)Gtc>Atc	p.V34I	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	34						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CCCTTGAAGACCGCATCGCAC	0.647000													16	55					0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378334	31378334	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31378334C>T	ENST00000449934.2	+	2	139	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	29			R -> P (in allele MICA*010, allele MICA*025 and allele MICA*054; abolishes cell surface expression, probably by interfering with protein folding; dbSNP:rs9380254).		antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CCACAGTCTTCGTTATAACCT	0.507000													11	37					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428932	48428932	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:48428932G>T	ENST00000224605.2	-	2	1219	c.954C>A	c.(952-954)ttC>ttA	p.F318L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	318					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTGCTTGTGGAAGTGCTGTG	0.721000													6	20					0.0215528	0.0216309	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:94224666C>T	ENST00000515393.1	-	12	1850	c.1851G>A	c.(1849-1851)agG>agA	p.R617R	MCTP1_ENST00000505078.1_Silent_p.R133R|MCTP1_ENST00000429576.2_Silent_p.R350R|MCTP1_ENST00000312216.8_Silent_p.R396R|MCTP1_ENST00000505208.1_Silent_p.R396R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000													23	50					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654399	159654399	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:159654399T>C	ENST00000297267.9	+	11	3055	c.2855T>C	c.(2854-2856)gTt>gCt	p.V952A	FNDC1_ENST00000340366.6_Missense_Mutation_p.V889A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	952						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)		GCTCAGGATGTTCAACAGAGC	0.622000													5	15					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71498390	71498390	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:71498390A>T	ENST00000396073.3	+	5	472	c.191A>T	c.(190-192)aAc>aTc	p.N64I		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	64					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCAATTCAACTTTATGAAC	0.303000													86	214					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806926	48806926	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:48806926C>T	ENST00000315396.7	-	8	1540	c.858G>A	c.(856-858)ttG>ttA	p.L286L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	286										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		ACTTCTGCACCAACAGGTCAG	0.642000													13	51					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670564	670564	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:670564C>T	ENST00000266383.5	+	20	2957	c.2944C>T	c.(2944-2946)Cat>Tat	p.H982Y		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	982						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTTCTTCCATCATTTCCATTC	0.597000													13	25					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561410	142561410	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142561410G>A	ENST00000392957.2	+	6	909	c.122G>A	c.(121-123)gGa>gAa	p.G41E	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G41E	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	41						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GACACCACCGGAGAGACATCT	0.597000													10	65					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5685080	5685080	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:5685080G>A	ENST00000546188.1	-	24	2615	c.2544C>T	c.(2542-2544)ctC>ctT	p.L848L	ANO2_ENST00000356134.5_Silent_p.L848L|ANO2_ENST00000327087.8_Silent_p.L847L			Q9NQ90	ANO2_HUMAN	anoctamin 2	852						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGAAAAAGGAGAGGGTGTGGT	0.512000													7	22					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040382	88040382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:88040382G>A	ENST00000319595.4	+	1	537	c.483G>A	c.(481-483)tgG>tgA	p.W161*		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	161					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CTCTATTCTGGAGGCACCAAG	0.418000													16	21					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37397962	37397962	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:37397962C>T	ENST00000405091.2	-	4	656	c.405G>A	c.(403-405)acG>acA	p.T135T	TEX33_ENST00000402860.3_Silent_p.T50T|TEX33_ENST00000381821.1_Silent_p.T135T			O43247	EAN57_HUMAN	testis expressed 33	135																	CCTTCTGGTTCGTGGGCGTGC	0.622000													5	19					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68981315	68981315	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:68981315C>T	ENST00000288368.4	+	12	1664	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	463	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R463C(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATATAGATTTCGCTATGATGA	0.348000													8	17					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994303	208994303	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:208994303C>T	ENST00000282141.3	-	2	151	c.114G>A	c.(112-114)gtG>gtA	p.V38V		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	38	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCCGCTCTCCACCCGGATGG	0.602000													83	52					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35853076	35853076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:35853076G>A	ENST00000314607.6	+	13	2214	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	ZMYM4_ENST00000373297.2_Missense_Mutation_p.G623S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	712					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGTTCTGTGGCAAGAATTG	0.303000													10	33					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155159802	155159802	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:155159802G>A	ENST00000368395.1	-	7	1323	c.1252C>T	c.(1252-1254)Cca>Tca	p.P418S	MUC1_ENST00000368392.3_Missense_Mutation_p.P207S|MUC1_ENST00000368398.3_Missense_Mutation_p.P173S|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000342482.4_Missense_Mutation_p.P109S|MUC1_ENST00000438413.1_Missense_Mutation_p.P172S|MUC1_ENST00000343256.5_Missense_Mutation_p.P146S|MUC1_ENST00000457295.2_Missense_Mutation_p.P207S|MUC1_ENST00000368389.2_Missense_Mutation_p.P111S|MUC1_ENST00000338684.5_Missense_Mutation_p.P167S|MUC1_ENST00000368390.3_Missense_Mutation_p.P198S|MUC1_ENST00000368393.3_Missense_Mutation_p.S175F|MUC1_ENST00000368396.4_Missense_Mutation_p.P102S|MUC1_ENST00000337604.5_Missense_Mutation_p.P216S	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1198	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCGGGCTGGAAAGATGTCC	0.597000			T	IGH@	B-NHL								24	73					0	0	1	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32487202	32487202	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:32487202A>G	ENST00000374975.3	-	3	659	c.597T>C	c.(595-597)gtT>gtC	p.V199V		NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR beta 5	199	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGCAGGTGTAAACCTCTCCAC	0.527000													85	100					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73117299	73117299	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:73117299G>A	ENST00000222812.3	-	8	580	c.554C>T	c.(553-555)tCc>tTc	p.S185F	STX1A_ENST00000395156.3_Missense_Mutation_p.S185F|STX1A_ENST00000395155.3_Missense_Mutation_p.S185F|STX1A_ENST00000395154.3_Missense_Mutation_p.S185F|WBSCR22_ENST00000423166.2_Intron	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	185					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGAGATGCTGGAGTCCATGAT	0.622000													11	19					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23928945	23928945	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:23928945G>A	ENST00000382298.3	-	8	2394	c.1806C>T	c.(1804-1806)gcC>gcT	p.A602A	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.A602A|SACS_ENST00000476776.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	602					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGGTACCTTGGCAATCTGCT	0.537000													23	46					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993649	45993649	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:45993649C>T	ENST00000400374.3	+	1	44	c.14C>T	c.(13-15)tCc>tTc	p.S5F	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	5						keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCGTCTGCTCCAGCGACCTG	0.642000													25	43					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87483547	87483547	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:87483547T>C	ENST00000341119.5	-	5	582	c.236A>G	c.(235-237)aAg>aGg	p.K79R		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	79					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCTGGCTTCTTATACCATAG	0.313000													15	49					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116122940	116122940	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:116122940G>A	ENST00000374183.4	+	3	493	c.454G>A	c.(454-456)Gag>Aag	p.E152K	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	152					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCACTGGGCCGAGGCGCTGCA	0.612000													4	11					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52817134	52817134	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:52817134G>A	ENST00000273283.2	+	9	1116	c.1092G>A	c.(1090-1092)ctG>ctA	p.L364L	ITIH1_ENST00000542827.1_Silent_p.L364L|ITIH1_ENST00000537050.1_Silent_p.L76L|ITIH1_ENST00000540715.1_Silent_p.L222L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	364	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCTTTTCCCTGGATGAGGGTA	0.542000													6	13					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40438507	40438507	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:40438507C>T	ENST00000381793.2	-	4	1677	c.1281G>A	c.(1279-1281)ccG>ccA	p.P427P	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.P389P|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000295971.7_Silent_p.P427P			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	427						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTTCCAAATTCGGCACCAGTT	0.478000													35	93					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773127	113773127	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:113773127G>A	ENST00000375581.3	+	9	1241	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G	F7_ENST00000346342.3_Silent_p.G380G|F7_ENST00000541084.1_Silent_p.G333G	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	402	Peptidase S1.		G -> E (in FA7D).|G -> R (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCTGCAAGGGGGACAGTGGAG	0.637000													10	18					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142422	5142422	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5142422C>T	ENST00000498233.1	-	0	976																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATAACAGATCGCTACACAGC	0.463000													9	24					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728643	20728643	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:20728643C>T	ENST00000427401.4	-	4	460	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	122					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						GCACCTTACACTCATCTACAC	0.318000													6	24					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618826	141618826	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:141618826G>A	ENST00000548136.1	+	1	210	c.151G>A	c.(151-153)Gat>Aat	p.D51N	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGTCTGTGTGGATAAACGTCT	0.448000													49	96					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601685	61601685	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:61601685G>A	ENST00000583023.1	+	2	273	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	KCNH6_ENST00000314672.5_Missense_Mutation_p.G88R|KCNH6_ENST00000581784.1_Missense_Mutation_p.G88R|KCNH6_ENST00000580652.1_Missense_Mutation_p.G88R|KCNH6_ENST00000456941.2_Missense_Mutation_p.G88R	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	88					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGCCCTGCTGGGGGCTGAGGA	0.632000													18	100					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16725556	16725556	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:16725556C>T	ENST00000417510.1	-	0	337																											atatcctcctccaaagccact	0.627000													9	27					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173027	51173027	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:51173027G>A	ENST00000440970.1	-	2	3246	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C	SALL1_ENST00000251020.4_Missense_Mutation_p.R1036C|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1036					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAAAAGCCACGATTGCAAACT	0.448000													13	15					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63246607	63246607	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:63246607C>T	ENST00000322893.7	-	10	2126	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.E562K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	620					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGGTGGTTTCCTTCCAGAAG	0.433000													7	36					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819858	43819858	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:43819858C>T	ENST00000382031.1	+	5	6932	c.6901C>T	c.(6901-6903)Ccc>Tcc	p.P2301S	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2063S|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2063S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2063						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCTGCAGTTCCCCCCCGTGC	0.617000													5	26					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413566	178413566	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178413566C>T	ENST00000231188.5	-	8	1867	c.1689G>A	c.(1687-1689)agG>agA	p.R563R	GRM6_ENST00000517717.1_Silent_p.R563R|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	563					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGGCGTGGGCCTCATGTCCC	0.701000													8	26					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15190619	15190619	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:15190619C>T	ENST00000355694.2	-	11	1074	c.840G>A	c.(838-840)agG>agA	p.R280R	TTC39B_ENST00000507993.1_Silent_p.R181R|TTC39B_ENST00000297615.5_Silent_p.R277R|TTC39B_ENST00000380850.4_Silent_p.R346R|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000507285.1_Silent_p.R181R|TTC39B_ENST00000512701.1_Silent_p.R346R	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	280							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ACCTCATGCTCCTTCCTGAAG	0.393000													11	37					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888893	51888893	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:51888893C>T	ENST00000453097.2	+	21	3151	c.2934C>T	c.(2932-2934)ttC>ttT	p.F978F	SLC4A8_ENST00000358657.3_Silent_p.F1005F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	978					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCATTGTTTTCCCAATGATGG	0.388000													15	31					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71533925	71533925	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:71533925C>T	ENST00000261413.5	-	5	351	c.312G>A	c.(310-312)ctG>ctA	p.L104L	MRPS27_ENST00000457646.4_Silent_p.L48L|MRPS27_ENST00000515404.1_Silent_p.L48L|MRPS27_ENST00000513900.1_Silent_p.L118L|MRPS27_ENST00000522562.1_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	104						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TCCAGTTTCTCAGGTACCAGC	0.413000													8	35					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158750299	158750299	+	Missense_Mutation	SNP	C	C	T	rs144020395		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:158750299C>T	ENST00000231228.2	-	3	582	c.127G>A	c.(127-129)Gga>Aga	p.G43R		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	43	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATTTCTCCAGGGGCATCC	0.507000													10	28					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136019952	136019952	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:136019952C>T	ENST00000471595.1	+	9	983	c.966_splice	c.e9+1	p.S322_splice	PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Splice_Site_p.S342_splice|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000466072.1_Splice_Site_p.S322_splice|PCCB_ENST00000483687.1_Splice_Site_p.S303_splice|PCCB_ENST00000462637.1_Splice_Site_p.S299_splice|PCCB_ENST00000468777.1_Splice_Site_p.S353_splice|PCCB_ENST00000482086.1_Splice_Site_p.S206_splice|PCCB_ENST00000490504.1_Splice_Site_p.S265_splice|PCCB_ENST00000251654.4_Splice_Site_p.S322_splice			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	322	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ATCATACACTCTGTAAGTGCC	0.488000													8	29					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116937775	116937775	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:116937775C>T	ENST00000265441.3	-	4	1043	c.744G>A	c.(742-744)caG>caA	p.Q248Q		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	248					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTGTGCCATCCTGGTTCATGA	0.502000													20	59					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566502	55566502	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:55566502G>A	ENST00000373965.2	-	36	5286	c.4892C>T	c.(4891-4893)cCa>cTa	p.P1631L	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				GTTCCTTAGTGGCTTCACCGC	0.448000										HNSCC(58;0.16)			64	158					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115024768	115024768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:115024768G>A	ENST00000334318.6	-	6	742	c.556C>T	c.(556-558)Cga>Tga	p.R186*	PTBP3_ENST00000374255.2_Nonsense_Mutation_p.R183*|PTBP3_ENST00000343327.2_Nonsense_Mutation_p.R88*|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000374257.1_Nonsense_Mutation_p.R155*|PTBP3_ENST00000458258.1_Nonsense_Mutation_p.R189*	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	183	RRM 2.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										ATAATTATTCGAAGCACAGGG	0.468000													14	43					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208219	49208219	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:49208219C>T	ENST00000340334.7	-	6	939	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	FOLH1_ENST00000256999.2_Missense_Mutation_p.G206R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G191R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G206R|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	206					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAAACTTTCCCATATCTGGCA	0.338000													17	39					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127302395	127302395	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:127302395G>A	ENST00000487099.2	-	5	670	c.513C>T	c.(511-513)aaC>aaT	p.N171N	NR6A1_ENST00000373584.3_Silent_p.N167N|NR6A1_ENST00000416460.2_Silent_p.N167N|NR6A1_ENST00000344523.4_Silent_p.N171N	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	171					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TATCACCATGGTTGCTCCAGT	0.498000													40	94					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618367	77618367	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:77618367C>T	ENST00000521891.2	+	2	2492	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P682S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P682S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P682S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	682						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACTGGACAGCCTCACCCCAG	0.512000										HNSCC(33;0.089)			9	24					0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48338250	48338250	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:48338250C>T	ENST00000421967.1	-	3	229	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ZNF589_ENST00000412564.1_Intron|NME6_ENST00000435684.1_Missense_Mutation_p.E54K|NME6_ENST00000452211.1_Missense_Mutation_p.E54K|NME6_ENST00000442597.1_Missense_Mutation_p.E54K|NME6_ENST00000447314.1_Missense_Mutation_p.E9K|NME6_ENST00000450160.1_Missense_Mutation_p.E54K|NME6_ENST00000444069.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.E54K|NME6_ENST00000426723.1_Missense_Mutation_p.E54K|NME6_ENST00000415644.1_Missense_Mutation_p.E54K|NME6_ENST00000451657.1_Missense_Mutation_p.E54K|NME6_ENST00000415053.1_Missense_Mutation_p.E54K	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	54					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGGCAATCTTCCTTTCTCCAC	0.428000													14	38					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74519768	74519768	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:74519768C>T	ENST00000437994.2	+	27	3848	c.3417C>T	c.(3415-3417)tcC>tcT	p.S1139S	CD109_ENST00000287097.5_Silent_p.S1139S|CD109_ENST00000422508.2_Silent_p.S1062S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1139						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCACGCTCCCTGGATATTG	0.448000													10	12					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109731695	109731695	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:109731695C>T	ENST00000369939.3	+	10	1410	c.1227C>T	c.(1225-1227)acC>acT	p.T409T	KIAA1324_ENST00000529753.1_Silent_p.T322T|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	409					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CAGACTGTACCCGCTGCCCTG	0.527000													20	76					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52876848	52876848	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:52876848G>A	ENST00000355083.5	-	7	892	c.747C>T	c.(745-747)tcC>tcT	p.S249S	TMEM110-MUSTN1_ENST00000504329.1_Silent_p.S249S|TMEM110_ENST00000464769.1_5'UTR	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ACTCCTCGTGGGATGCGGCCC	0.592000													19	30					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17750517	17750517	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:17750517C>T	ENST00000380060.3	+	8	5164	c.4826C>T	c.(4825-4827)tCc>tTc	p.S1609F	NHS_ENST00000398097.3_Missense_Mutation_p.S1453F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1609						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGGCAATCTCCGAGGGAGAG	0.602000													26	24					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37152304	37152304	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:37152304C>T	ENST00000263918.4	-	2	290	c.282G>A	c.(280-282)ttG>ttA	p.L94L	STRN_ENST00000379213.2_Silent_p.L82L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	94					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GATCCTTCTTCAAATTTTCTT	0.368000													4	90					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004508	74004508	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:74004508C>T	ENST00000301607.3	-	22	5031	c.4778G>A	c.(4777-4779)gGg>gAg	p.G1593E	EVPL_ENST00000586740.1_Missense_Mutation_p.G1615E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1593	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGCAGCCGCCCACACTCCTG	0.687000													7	11					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19765491	19765491	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:19765491G>A	ENST00000357324.6	-	13	1700	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	ATP13A1_ENST00000291503.5_Silent_p.T440T|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	558					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGACACTGGGGTCACCTCCT	0.637000													19	37					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887625	3887625	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:3887625C>T	ENST00000319331.3	+	2	2061	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	434	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTCCCAAATCGTTTAAACGT	0.478000													22	61					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152470621	152470621	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:152470621G>A	ENST00000367255.5	-	136	25234	c.24633C>T	c.(24631-24633)atC>atT	p.I8211I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.I7823I|SYNE1_ENST00000539504.1_Silent_p.I366I|SYNE1_ENST00000448038.1_Silent_p.I8140I|SYNE1_ENST00000356820.4_Silent_p.I2735I|SYNE1_ENST00000265368.4_Silent_p.I8211I|SYNE1_ENST00000354674.4_Silent_p.I366I|SYNE1_ENST00000423061.1_Silent_p.I8140I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8211					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGCAGGCGGATCAGTTTCT	0.468000										HNSCC(10;0.0054)			25	43					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77257398	77257398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:77257398C>T	ENST00000376896.2	+	4	916	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	RORB_ENST00000396204.2_Nonsense_Mutation_p.Q113*	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	113	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						gaagcaccagcagcggctgca	0.562000													19	45					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24417382	24417382	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:24417382C>T	ENST00000330966.7	-	12	1502	c.1340G>A	c.(1339-1341)cGg>cAg	p.R447Q	MYOM3_ENST00000374434.3_Missense_Mutation_p.R446Q|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.R446Q			Q5VTT5	MYOM3_HUMAN	myomesin 3	446	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCTCTCACCCGGAACCGATA	0.632000													22	65					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93104339	93104339	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:93104339G>A	ENST00000298050.3	+	7	782	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	228										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GTTCATTATTGAAAAACTGAA	0.348000													4	16					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130587172	130587172	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:130587172G>A	ENST00000344849.3	-	7	1178	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Silent_p.L300L			P17813	EGLN_HUMAN	endoglin	300					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCCTCCCCCAGGAGGCCTTGA	0.557000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				18	46					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	48040154	48040154	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:48040154G>A	ENST00000426837.2	-	2	284	c.197C>T	c.(196-198)cCg>cTg	p.P66L	MAP4_ENST00000439356.1_Missense_Mutation_p.P66L|MAP4_ENST00000383737.4_Missense_Mutation_p.P66L|MAP4_ENST00000434267.1_Missense_Mutation_p.P66L|MAP4_ENST00000360240.6_Missense_Mutation_p.P66L|MAP4_ENST00000395734.3_Missense_Mutation_p.P66L			P27816	MAP4_HUMAN	microtubule-associated protein 4	66					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTCTGAGCACGGTTTCTTCTT	0.403000													33	93					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77880383	77880383	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:77880383G>A	ENST00000380835.2	-	2	409	c.243C>T	c.(241-243)atC>atT	p.I81I	NOXRED1_ENST00000298358.3_Silent_p.I81I	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	81					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CACCTCCAATGATGCCCACCT	0.522000													12	14					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188931	6188931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:6188931C>T	ENST00000262450.3	-	23	3685	c.3586G>A	c.(3586-3588)Ggc>Agc	p.G1196S	CHD5_ENST00000378021.1_Missense_Mutation_p.G53S	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1196					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCCGTGCCGAACTTGAGG	0.657000													10	32					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235039	21235039	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:21235039C>T	ENST00000233242.1	-	26	4828	c.4701G>A	c.(4699-4701)gaG>gaA	p.E1567E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1567					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTAAAGTCAGCTCGTAGTTCT	0.423000													125	359					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36498978	36498978	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:36498978G>A	ENST00000342292.4	-	1	715	c.695C>T	c.(694-696)cCt>cTt	p.P232L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCCAGGAAAGGAGGAGACAG	0.602000													26	63					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117351222	117351222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:117351222C>T	ENST00000321322.6	-	14	2902	c.2901G>A	c.(2899-2901)tgG>tgA	p.W967*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.W697*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	907	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATCGCTGGGTCCAGCGCAGGT	0.632000													8	10					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678378	130678378	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:130678378G>A	ENST00000338616.3	+	1	429	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GGCCACAGCAGAGTGCCTCCT	0.527000													34	20					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101839972	101839972	+	Silent	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:101839972G>C	ENST00000360264.3	+	15	1334	c.1314G>C	c.(1312-1314)ccG>ccC	p.P438P	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.P427P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000549414.2_Silent_p.P427P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Silent_p.P427P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	427					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GATCTTTGCCGGCCCCCCCTC	0.562000													23	45					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96408008	96408008	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:96408008G>A	ENST00000359246.4	+	4	764	c.397G>A	c.(397-399)Gac>Aac	p.D133N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	133					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCTAAGAAAGACGGGCTGGG	0.622000													14	52					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35610568	35610568	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:35610568C>T	ENST00000542713.1	-	2	191	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	FKBP5_ENST00000357266.4_Missense_Mutation_p.E12K|FKBP5_ENST00000536438.1_Missense_Mutation_p.E12K|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.E12K	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	12					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTGGGGCTTTCTTCATTGTTC	0.403000													46	167					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646636	57646636	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:57646636G>A	ENST00000269834.1	-	5	1454	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCCCAGTGTGAATTTTCTCA	0.393000													23	96					0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489449	489449	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:489449C>T	ENST00000308020.5	+	9	1080	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	302						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CAGCTGGGTTCGCTTCGAGTG	0.687000													10	24					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25446337	25446337	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:25446337C>T	ENST00000424208.1	+	0	1912				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GGCCAGTATCCGTCAGCCTGG	0.572000													10	19					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91642297	91642297	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:91642297G>A	ENST00000518868.1	+	10	1317	c.627G>A	c.(625-627)gaG>gaA	p.E209E	C14orf159_ENST00000522322.1_Silent_p.E204E|C14orf159_ENST00000412671.2_Silent_p.E209E|C14orf159_ENST00000520328.1_Silent_p.E192E|C14orf159_ENST00000256324.10_Silent_p.E209E|C14orf159_ENST00000521077.2_Silent_p.E209E|C14orf159_ENST00000523771.1_Silent_p.E204E|C14orf159_ENST00000523816.1_Silent_p.E204E|C14orf159_ENST00000525393.2_Silent_p.E80E|C14orf159_ENST00000428926.2_Silent_p.E204E			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	204						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAATCAAAGAGCTTTCCAAAC	0.502000													15	59					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435818	158435818	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158435818C>T	ENST00000289451.2	+	1	547	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCACTGTCTCCCTGGTCACC	0.532000													46	134					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18534758	18534758	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:18534758G>A	ENST00000433979.1	+	13	1932	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E647K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E606K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	606					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCTCCCGTAGAAATGATAAC	0.473000													37	84					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922597	24922597	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:24922597C>T	ENST00000329468.2	+	1	2057	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTCCTCTTTCCTTCCTGACT	0.532000													45	123					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535652	69535652	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:69535652C>T	ENST00000338206.5	-	1	694	c.685G>A	c.(685-687)Gat>Aat	p.D229N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	229					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTCTTCAGATCATAAATTTGA	0.323000													45	99					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886004	88886004	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:88886004G>A	ENST00000319675.3	-	1	292	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	66										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAAGAGGAGGGATCCCAGCTA	0.517000													30	52					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:28543161C>T	ENST00000452236.2	-	3	1938	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E441K(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAAAATTCCCTCCCATTG	0.418000													19	47					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32954009	32954009	+	Nonsense_Mutation	SNP	C	C	T	rs80359159		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:32954009C>T	ENST00000544455.1	+	23	9303	c.9076C>T	c.(9076-9078)Cag>Tag	p.Q3026*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q3026*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3026					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCTAACATACAGTTAGCAGC	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			8	30					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70884520	70884520	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:70884520C>T	ENST00000393567.2	-	74	12632	c.12482G>A	c.(12481-12483)gGa>gAa	p.G4161E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4161										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)				GTTCACATCTCCTTCCTGCTT	0.408000													9	10					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619357	52619357	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:52619357T>C	ENST00000600228.1	-	4	1321	c.1060A>G	c.(1060-1062)Aaa>Gaa	p.K354E	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACATCACATTTATATGGTTTC	0.408000													37	96					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927413	23927413	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:23927413C>T	ENST00000402377.3	-	4	1080	c.939G>A	c.(937-939)aaG>aaA	p.K313K	ZNF681_ENST00000395385.3_Silent_p.K244K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGCCACATTCCTTATATTCAT	0.383000													9	37					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101971544	101971544	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:101971544G>A	ENST00000348070.1	-	5	634	c.635C>T	c.(634-636)cCt>cTt	p.P212L	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.P212L|PCSK6_ENST00000344273.2_Missense_Mutation_p.P212L|PCSK6_ENST00000358417.3_Missense_Mutation_p.P212L|PCSK6_ENST00000331826.7_Missense_Mutation_p.P47L	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	213	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCCAGGTCAGGGTGATTTCT	0.448000													7	17					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169392998	169392998	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:169392998G>A	ENST00000511577.1	-	4	411	c.164C>T	c.(163-165)tCa>tTa	p.S55L	DDX60L_ENST00000505890.1_Missense_Mutation_p.S55L|DDX60L_ENST00000260184.7_Missense_Mutation_p.S55L|DDX60L_ENST00000515088.1_5'UTR			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	55							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCACTTGAATGATTTTACACC	0.353000													17	33					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130922999	130922999	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:130922999C>T	ENST00000261655.4	-	9	1679	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.V414I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.V414I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	506	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCCAGGAGACCCGGATGGTG	0.647000													7	20					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173490	126173490	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:126173490G>A	ENST00000339582.2	-	9	2754	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	GRM8_ENST00000444921.2_Missense_Mutation_p.S649F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S649F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	649					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S649F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCGTCGGAAGGAGCATATGAT	0.453000										HNSCC(24;0.065)			21	31					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327167	150327167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150327167G>A	ENST00000328902.5	-	2	280	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GIMAP6_ENST00000493969.1_Missense_Mutation_p.P22S	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	22							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCAGCACAGGATCCTGGGAC	0.453000													59	151					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732336	152732336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:152732336C>T	ENST00000368773.1	+	2	330	c.272C>T	c.(271-273)aCc>aTc	p.T91I	KPRP_ENST00000606109.1_Missense_Mutation_p.T91I	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	91	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTCTAAGACCACCCAGGTG	0.562000													41	145					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172263	95172263	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:95172263C>T	ENST00000027335.3	-	12	1611	c.1487G>A	c.(1486-1488)aGt>aAt	p.S496N	CDH17_ENST00000441892.2_Missense_Mutation_p.S282N|CDH17_ENST00000450165.2_Missense_Mutation_p.S496N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	496	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCGTCCCTCACTGTCTCCCTT	0.413000													33	61					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673854	4673854	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4673854C>A	ENST00000396952.5	+	2	748	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	OR51E1_ENST00000530215.1_Missense_Mutation_p.P33Q	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCCTTCCCATTGTGCTCC	0.463000													34	70					1.58521e-26	1.61691e-26	1	1	0
CAMK4	814	broad.mit.edu	37	5	110560272	110560272	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:110560272G>A	ENST00000282356.4	+	1	489	c.91G>A	c.(91-93)Gat>Aat	p.D31N	CAMK4_ENST00000512453.1_Missense_Mutation_p.D31N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	31					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CCTCGTCCCGGATTACTGGAT	0.677000													5	23					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49741385	49741385	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:49741385A>C	ENST00000492622.2	+	9	1288	c.983A>C	c.(982-984)gAa>gCa	p.E328A	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E272A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E328A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	328	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCCAGAGGAGAAGAAACAAAT	0.328000													6	24					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018899	143018899	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143018899C>T	ENST00000343257.2	+	5	741	c.654C>T	c.(652-654)gcC>gcT	p.A218A	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	218					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGTTGTCGCCCTGACTGCGG	0.587000													10	30					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	48040155	48040155	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:48040155G>A	ENST00000426837.2	-	2	283	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	MAP4_ENST00000439356.1_Missense_Mutation_p.P66S|MAP4_ENST00000383737.4_Missense_Mutation_p.P66S|MAP4_ENST00000434267.1_Missense_Mutation_p.P66S|MAP4_ENST00000360240.6_Missense_Mutation_p.P66S|MAP4_ENST00000395734.3_Missense_Mutation_p.P66S			P27816	MAP4_HUMAN	microtubule-associated protein 4	66					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTGAGCACGGTTTCTTCTTT	0.403000													32	92					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974815	20974815	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:20974815C>A	ENST00000261383.3	-	53	10390	c.10391G>T	c.(10390-10392)tGg>tTg	p.W3464L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3464					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)		AGAGAACTTCCAAGACCCAGG	0.522000													13	47					0.000151284	0.000152465	1	1	0
FAT4	79633	broad.mit.edu	37	4	126373533	126373533	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:126373533G>A	ENST00000394329.3	+	9	11375	c.11362G>A	c.(11362-11364)Gag>Aag	p.E3788K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2086K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3788					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						AAGCATCAAAGAGATCCTTCT	0.463000													18	35					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315034	30315034	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:30315034G>A	ENST00000375377.1	-	3	4144	c.4043C>T	c.(4042-4044)cCa>cTa	p.P1348L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1348				P -> R (in Ref. 6; AAH47548).						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						TTCCTCACCTGGGCACCAGAA	0.483000													25	74					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076451	93076451	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:93076451G>A	ENST00000510627.4	-	1	892	c.819C>T	c.(817-819)tcC>tcT	p.S273S	FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TCTCCCGTGGGGAAGCATCAT	0.582000													5	12					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846885	123846885	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:123846885C>T	ENST00000369005.1	+	4	5210	c.4870C>T	c.(4870-4872)Cca>Tca	p.P1624S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.P1624S|TACC2_ENST00000453444.2_Missense_Mutation_p.P1624S|TACC2_ENST00000515273.1_Missense_Mutation_p.P1624S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P1624S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1624						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CACAGGGGTTCCAGGACATGT	0.572000													7	43					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247726896	247726896	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247726896G>A	ENST00000366491.2	+	5	531	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	GCSAML_ENST00000366489.1_Missense_Mutation_p.E12K|GCSAML_ENST00000527541.1_5'UTR|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000366488.4_Missense_Mutation_p.E32K|GCSAML_ENST00000536561.1_Missense_Mutation_p.E12K					germinal center-associated, signaling and motility-like																		TTGTAGGCAGGAAATGACTAC	0.358000													3	14					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8140033	8140033	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:8140033A>T	ENST00000600128.1	-	61	8038	c.7624T>A	c.(7624-7626)Tgt>Agt	p.C2542S	FBN3_ENST00000270509.2_Missense_Mutation_p.C2542S|FBN3_ENST00000601739.1_Missense_Mutation_p.C2542S			Q75N90	FBN3_HUMAN	fibrillin 3	2542	EGF-like 42; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTTCTGACAGCCATGCTGG	0.607000													28	87					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	601608	601608	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:601608C>T	ENST00000264555.5	+	10	1187	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	PHRF1_ENST00000533464.1_Silent_p.T349T|PHRF1_ENST00000416188.2_Silent_p.T353T|PHRF1_ENST00000413872.2_Silent_p.T352T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	353	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAAAGAAAACCCCGTCCGGAC	0.507000													14	45					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6986186	6986186	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:6986186C>T	ENST00000389658.3	-	37	5422	c.5329G>A	c.(5329-5331)Gaa>Aaa	p.E1777K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1777	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTTGCTTTCCTGCATCTTT	0.473000													29	89					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124696789	124696789	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:124696789G>A	ENST00000311127.4	-	15	3802	c.3733_splice	c.e15-1	p.P1245_splice		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1245						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAAGCTGATAGGCTAAACGTA	0.488000													5	7					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900748	51900748	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:51900748G>A	ENST00000268919.4	+	1	510	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	118					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGTTGCGATGATCCCCCAGA	0.607000													28	153					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482888	42482888	+	Silent	SNP	G	G	A	rs146606627		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:42482888G>A	ENST00000545399.1	-	12	1692	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	ATP1A3_ENST00000543770.1_Silent_p.A511A|ATP1A3_ENST00000302102.5_Silent_p.A500A|ATP1A3_ENST00000602133.1_Silent_p.A470A	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	500					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGCGCTCGGGGGCACCCTTCA	0.622000													29	75					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119909868	119909868	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:119909868A>T	ENST00000327554.2	+	3	705	c.240A>T	c.(238-240)aaA>aaT	p.K80N	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	80										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTGCAAAGAAAAAGAAGCAAC	0.433000													37	82					0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15410906	15410906	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrY:15410906C>T	ENST00000331397.4	-	24	4515	c.3508G>A	c.(3508-3510)Ggc>Agc	p.G1170S	UTY_ENST00000362096.4_Missense_Mutation_p.G1170S|UTY_ENST00000537580.1_Missense_Mutation_p.G1091S|UTY_ENST00000382896.4_Missense_Mutation_p.G1215S	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1170	JmjC.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TGCACAGTGCCTGCATTTATC	0.423000													8	3					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294425	29294425	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:29294425G>A	ENST00000331664.5	-	1	2702	c.2703C>T	c.(2701-2703)acC>acT	p.T901T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	901					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGTGAGGCTTGGTCAGGCTGG	0.677000													10	22					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77191256	77191256	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:77191256C>T	ENST00000426126.2	+	2	785	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ZDHHC17_ENST00000359019.4_Intron|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.P46S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	46					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATATGGTGAACCTCTTGGACG	0.363000													13	23					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182339713	182339713	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:182339713A>T	ENST00000397033.2	+	3	776	c.346A>T	c.(346-348)Aag>Tag	p.K116*	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Nonsense_Mutation_p.K116*	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	116					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACCTTGTGGAAAGACTTGTTT	0.413000													24	20					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635004	33635004	+	Silent	SNP	C	C	T	rs141133607		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:33635004C>T	ENST00000380099.3	+	4	1796	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	596	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCGCTTCTCCCTGGACTGGG	0.532000													21	68					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57132728	57132728	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:57132728C>T	ENST00000328070.6	+	3	307	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	25						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CACGGGGGGACCCACGAGGAA	0.582000													13	39					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231037598	231037598	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:231037598G>A	ENST00000258381.6	-	15	1745	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	AC009950.2_ENST00000595586.1_RNA|AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000594622.1_RNA|SP110_ENST00000358662.4_Silent_p.F556F	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	556					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTCCTCATGGAAGACTCGTG	0.587000													22	23					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163946	73163946	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:73163946C>T	ENST00000545377.1	+	20	2495	c.2319C>T	c.(2317-2319)tcC>tcT	p.S773S	ARHGEF28_ENST00000437974.1_Silent_p.S773S|ARHGEF28_ENST00000296794.6_Silent_p.S773S|ARHGEF28_ENST00000426542.2_Silent_p.S773S|ARHGEF28_ENST00000513042.2_Silent_p.S773S|ARHGEF28_ENST00000287898.5_Silent_p.S773S|ARHGEF28_ENST00000296799.4_Silent_p.S460S	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CAGCCACATCCTTGGAGTCTG	0.498000													7	12					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785353	209785353	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:209785353G>A	ENST00000009105.1	+	11	1377	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	CAMK1G_ENST00000361322.2_Missense_Mutation_p.G378S			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	378						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGCCAGCATGGCCGCCGGCC	0.637000													27	75					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453901	63453901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:63453901C>T	ENST00000322893.7	-	5	706	c.438G>A	c.(436-438)tgG>tgA	p.W146*	KCNH5_ENST00000420622.2_Nonsense_Mutation_p.W146*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.W88*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.W88*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	146					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAATTTCGTCCAACCTTAAA	0.378000													20	37					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425564	25425564	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:25425564C>T	ENST00000441592.2	+	0	552																											TTCCTGGCATCCTGGTCTCCT	0.597000													23	15					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134079302	134079302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:134079302G>A	ENST00000534548.2	-	5	701	c.637C>T	c.(637-639)Cga>Tga	p.R213*		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	213					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGGCATTTCGAATTTGAGAA	0.343000													10	34					0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113616795	113616795	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:113616795G>A	ENST00000314045.7	-	5	628	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	DDX54_ENST00000306014.5_Silent_p.L201L	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	201	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTCCACCCAGGATCAGGGCA	0.547000													6	14					0	0	1	0	0
NCF1B	654816	broad.mit.edu	37	7	72639959	72639959	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:72639959C>T	ENST00000423083.1	+	0	158					NR_003186.1																						CGCCGAGAACCACCAGGGCAC	0.647000													6	32					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732337	152732337	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:152732337C>T	ENST00000368773.1	+	2	331	c.273C>T	c.(271-273)acC>acT	p.T91T	KPRP_ENST00000606109.1_Silent_p.T91T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	91	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTAAGACCACCCAGGTGA	0.557000													45	144					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32994008	32994008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:32994008C>T	ENST00000340811.4	-	6	1618	c.1510G>A	c.(1510-1512)Ggt>Agt	p.G504S	PKP2_ENST00000070846.6_Missense_Mutation_p.G548S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	548					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCGAGCAAACCATTTGCTTTT	0.428000													33	112					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654982	19654982	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:19654982G>A	ENST00000586018.1	+	8	1748	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	CILP2_ENST00000291495.4_Missense_Mutation_p.R543Q			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	543						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.R543L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TTTGATCCTCGAGGTGCCGGC	0.607000													21	50					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863673	55863673	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:55863673G>C	ENST00000388975.3	-	10	1348	c.1232C>G	c.(1231-1233)gCt>gGt	p.A411G		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	411					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCGGAGGCAGCTTTCATTTT	0.383000													22	63					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2058350	2058350	+	Silent	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:2058350G>T	ENST00000382203.1	+	8	1616	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	SMARCA2_ENST00000357248.2_Silent_p.V469V|SMARCA2_ENST00000382194.1_Silent_p.V469V|SMARCA2_ENST00000349721.2_Silent_p.V469V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	469	HSA.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCGGTCTGTGGCCGGAAAGA	0.423000													33	110					3.90053e-15	3.97018e-15	1	1	0
INPP5A	3632	broad.mit.edu	37	10	134521849	134521849	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:134521849G>A	ENST00000368594.3	+	7	784	c.507G>A	c.(505-507)acG>acA	p.T169T	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.T169T	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	169				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCATCCGGACGAGGTGGTGCA	0.468000													6	22					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31685450	31685450	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31685450C>T	ENST00000503322.1	+	6	1021	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	LY6G6D_ENST00000375825.3_Missense_Mutation_p.P91S|LY6G6F_ENST00000556581.1_Missense_Mutation_p.P340S																							CGTGACTTATCCAGCCCACAG	0.597000													123	503					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106316	55106316	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:55106316C>T	ENST00000453777.1	+	4	427	c.257C>T	c.(256-258)cCa>cTa	p.P86L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.P86L	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	86	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCCCATCCCATCCATCACC	0.562000													15	64					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720860	95720860	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:95720860C>T	ENST00000480546.1	-	0	437					NR_002319.2																						CAAATAGCTCCCAGAAGTAGC	0.502000													21	55					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604712	62604712	+	Missense_Mutation	SNP	G	G	A	rs139228211		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:62604712G>A	ENST00000281156.4	-	6	916	c.638C>T	c.(637-639)cCc>cTc	p.P213L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	213	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGGTGGTGGGGGAGGAGGAAT	0.547000													13	46					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325243	9325243	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9325243C>T	ENST00000308682.2	-	1	299	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TAGGAGATGTCTTTGCTCCGT	0.488000													23	48					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784508	143784508	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:143784508G>A	ENST00000292430.6	+	3	634		c.e3-1		LY6K_ENST00000519387.1_Intron|LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Splice_Site			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K							anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTTCCTATTAGAAATATTTCC	0.532000													11	18					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520135	84520135	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:84520135A>T	ENST00000360700.4	+	6	1676	c.790A>T	c.(790-792)Att>Ttt	p.I264F	ZNF711_ENST00000276123.3_Missense_Mutation_p.I264F|ZNF711_ENST00000373165.3_Missense_Mutation_p.I264F|ZNF711_ENST00000395402.1_Missense_Mutation_p.I242F|ZNF711_ENST00000542798.1_Missense_Mutation_p.I60F			Q9Y462	ZN711_HUMAN	zinc finger protein 711	264				IVT -> MSP (in Ref. 4; CAA39837).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGAACAGAAATTGTCACAGA	0.368000													12	9					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51571217	51571217	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:51571217C>T	ENST00000522124.1	+	15	1693	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	SNTG1_ENST00000276467.5_Silent_p.I344I|SNTG1_ENST00000518864.1_Silent_p.I344I|SNTG1_ENST00000517473.1_Silent_p.I344I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	344	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGTGCAAGATCCTCAAGGTAT	0.368000													7	32					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752109	21752109	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:21752109C>T	ENST00000382254.1	-	15	3208	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.E708K|CDH12_ENST00000522262.1_Missense_Mutation_p.E668K|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	708					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGTTATCTTCCATGGGTGGT	0.453000										HNSCC(59;0.17)			13	58					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646650	127646650	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:127646650G>A	ENST00000407609.3	+	0	156				KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Silent_p.Q13Q|KBTBD12_ENST00000405109.1_Missense_Mutation_p.A372T|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A372T			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12											endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GTTATGCACAGCTGAATTTCG	0.368000													44	136					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29599253	29599253	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29599253T>C	ENST00000377034.4	-	3	544	c.209A>G	c.(208-210)gAg>gGg	p.E70G	GABBR1_ENST00000376977.3_Missense_Mutation_p.E70G|GABBR1_ENST00000377016.4_Missense_Mutation_p.E70G	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	70	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CACCTCGCGCTCCCCCCGGCA	0.632000													20	110					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159048669	159048669	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:159048669C>T	ENST00000296530.8	-	5	2071	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R	FAM198B_ENST00000585682.1_Missense_Mutation_p.G484R|FAM198B_ENST00000393807.5_Missense_Mutation_p.G492R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	484						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGTCTACCTCCTTGACTTTCC	0.398000													28	60					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76832252	76832252	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:76832252G>A	ENST00000312010.6	-	3	518	c.194C>T	c.(193-195)cCc>cTc	p.P65L	USP36_ENST00000589424.1_Missense_Mutation_p.P65L|USP36_ENST00000542802.2_Missense_Mutation_p.P65L|USP36_ENST00000590546.2_Missense_Mutation_p.P65L	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	65					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTCTGTTTTGGGGTTGAGCAA	0.547000													34	46					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123539080	123539080	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:123539080C>T	ENST00000422452.2	-	27	5255	c.5192G>A	c.(5191-5193)gGt>gAt	p.G1731D	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G1724D	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACGCAGGGAACCATCTGGATT	0.542000													19	15					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126126092	126126092	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:126126092G>A	ENST00000393425.1	+	3	226	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	CCDC37_ENST00000352312.1_Missense_Mutation_p.E43K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E43K|CCDC37_ENST00000510833.1_Missense_Mutation_p.E43K			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	43										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGAAAAAACGAAGGTAACCT	0.507000													4	22					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505722	27505722	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:27505722C>T	ENST00000296098.4	+	1	393	c.123C>T	c.(121-123)ccC>ccT	p.P41P	TRIM54_ENST00000380075.2_Silent_p.P41P	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	41					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCCTGCCCTGCCAACACA	0.602000													68	134					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145541454	145541454	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:145541454C>T	ENST00000369304.3	+	28	3417	c.3242C>T	c.(3241-3243)tCc>tTc	p.S1081F	ITGA10_ENST00000539363.1_Missense_Mutation_p.S938F|ITGA10_ENST00000538811.1_Missense_Mutation_p.S950F	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1081					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTTCAAGTCCCTGACGGTG	0.507000													4	12					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56300662	56300662	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:56300662C>T	ENST00000443188.1	-	10	3327	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	NLRP11_ENST00000592953.1_Missense_Mutation_p.E774K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E819K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E873K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E819K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	873							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCTGCATCTTCTATTTTGTTG	0.443000													33	83					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058251	11058251	+	RNA	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:11058251A>T	ENST00000470054.1	-	0	396									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)		GCACAAGGATAATGATACATC	0.433000													12	99					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072499	234072499	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:234072499G>A	ENST00000359570.5	+	14	1351	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	INPP5D_ENST00000538935.1_Missense_Mutation_p.E450K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E215K|INPP5D_ENST00000455936.2_Missense_Mutation_p.E215K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	463					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGAGTGGCTGGAGATCCTCAA	0.557000													44	30					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56170920	56170920	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:56170920C>T	ENST00000399503.3	+	10	1748	c.1748C>T	c.(1747-1749)gCc>gTc	p.A583V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	583					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGAGAGATGGCCCTCAGGCGT	0.498000													31	71					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31736926	31736926	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31736926C>T	ENST00000375686.3	-	10	1609	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	VWA7_ENST00000375688.4_Missense_Mutation_p.E458K|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E458K	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	458						extracellular region											GACAAGATCTCACGCCGAGCT	0.542000													73	323					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962010	34962010	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:34962010G>A	ENST00000329357.5	+	1	1098	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	354										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGATTCTGAGAAGAAGCTGG	0.557000													21	13					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38682284	38682284	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:38682284C>T	ENST00000261438.5	+	2	343	c.38C>T	c.(37-39)gCc>gTc	p.A13V	KLF3_ENST00000514033.1_Missense_Mutation_p.A13V	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	13	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AAGCAAGAGGCCATGGACCCT	0.403000													30	81					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76831883	76831883	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:76831883C>T	ENST00000278559.3	+	10	1604	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.P472L|CAPN5_ENST00000456580.2_Missense_Mutation_p.P512L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	472	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTCATCATCCCCACAACCTTC	0.622000													34	127					0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77322884	77322884	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:77322884C>T	ENST00000558012.1	+	9	1093	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.R202W|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.R202W|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.R201W	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	202					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	p.R202W(2)		breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GGAGAAGGTCCGGGCTGAGTG	0.642000													11	28					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136315052	136315052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:136315052C>T	ENST00000371929.3	+	23	3454	c.3010C>T	c.(3010-3012)Cag>Tag	p.Q1004*	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.Q1004*|ADAMTS13_ENST00000356589.2_Nonsense_Mutation_p.Q973*|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1004	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCGGAACCCCAGGAGGCCTG	0.677000													10	14					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57088068	57088068	+	Silent	SNP	G	G	A	rs150087591		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:57088068G>A	ENST00000532437.1	-	2	524	c.213C>T	c.(211-213)ccC>ccT	p.P71P	TNKS1BP1_ENST00000358252.3_Silent_p.P71P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	71	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACTCAGCCAGGGGACCCCGGG	0.682000													11	16					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77409626	77409626	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:77409626G>A	ENST00000308488.6	-	7	2923	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	RSF1_ENST00000360355.2_Missense_Mutation_p.S843L|RSF1_ENST00000480887.1_Missense_Mutation_p.S622L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	874					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCCTCTTCTGAAGCTGCAGA	0.453000													42	60					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13220226	13220226	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:13220226G>A	ENST00000592062.1	-	13	1936	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y	TRMT1_ENST00000437766.1_Missense_Mutation_p.H456Y|TRMT1_ENST00000221504.8_Missense_Mutation_p.H427Y|TRMT1_ENST00000357720.4_Missense_Mutation_p.H456Y			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	456							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GTGTTGCAGTGGATGGTGCTG	0.637000													28	58					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984751	110984751	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:110984751C>T	ENST00000524391.1	-	3	1759	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	KCNV1_ENST00000297404.1_Missense_Mutation_p.E243K			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	243						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCCAGGATTTCCAGCAGCTGC	0.527000													22	55					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71803557	71803557	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:71803557C>T	ENST00000299980.4	-	6	1052	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	AP1G1_ENST00000393512.3_Missense_Mutation_p.R204Q|AP1G1_ENST00000433195.2_Missense_Mutation_p.R227Q|AP1G1_ENST00000569748.1_Missense_Mutation_p.R204Q|AP1G1_ENST00000423132.2_Missense_Mutation_p.R204Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	204					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GTCTGGGCTTCGCTCACACAT	0.383000													26	34					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56559230	56559230	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:56559230G>A	ENST00000394023.3	-	27	3209	c.3104C>T	c.(3103-3105)cCa>cTa	p.P1035L	SMARCC2_ENST00000347471.4_Missense_Mutation_p.P1035L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P1035L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P1004L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1004	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CAAACTTCCTGGAGGGGCCCC	0.667000													14	32					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860075	5860075	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:5860075G>A	ENST00000546188.1	-	11	1179	c.1108C>T	c.(1108-1110)Ctc>Ttc	p.L370F	ANO2_ENST00000356134.5_Missense_Mutation_p.L370F|ANO2_ENST00000327087.8_Missense_Mutation_p.L369F			Q9NQ90	ANO2_HUMAN	anoctamin 2	374						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATGGGATGAGGAATGATGTA	0.333000													9	14					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116264264	116264264	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:116264264T>C	ENST00000606080.1	-	7	1671	c.1225A>G	c.(1225-1227)Aaa>Gaa	p.K409E	FRK_ENST00000538210.1_Missense_Mutation_p.K267E	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	409	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ATGCTGAATTTATTACTACGA	0.373000													6	15					0	0	1	0	0
ARHGAP19	84986	broad.mit.edu	37	10	98985884	98985884	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:98985884G>A	ENST00000358531.4	-	12	1508	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000453547.2_Intron|ARHGAP19_ENST00000355366.5_Intron|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L485F|ARHGAP19-SLIT1_ENST00000316676.8_Intron	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	494					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		ATCCTTCAGAGAAATCCTAGG	0.413000													7	18					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6387564	6387564	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:6387564C>T	ENST00000262483.8	-	5	410	c.323G>A	c.(322-324)gGa>gAa	p.G108E	ACKR6_ENST00000421306.3_Missense_Mutation_p.G72E	NM_031220.3	NP_112497.2																					CTCGATGCTTCCCTGGGCTGG	0.572000													36	86					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154513650	154513650	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:154513650C>T	ENST00000409959.3	+	18	1885	c.1836C>T	c.(1834-1836)aaC>aaT	p.N612N	KIAA0922_ENST00000440693.1_Intron|KIAA0922_ENST00000409663.3_Silent_p.N611N	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	611						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGGTGCAGAACCCGTCCTCTT	0.507000													17	37					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201499624	201499624	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:201499624C>T	ENST00000374700.2	+	21	2573	c.2332C>T	c.(2332-2334)Ccc>Tcc	p.P778S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	778					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CACACAGTTTCCCAAATATAT	0.408000													53	25					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730690	3730690	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:3730690G>A	ENST00000541714.2	+	5	1061	c.599G>A	c.(598-600)aGg>aAg	p.R200K	TJP3_ENST00000262968.9_Missense_Mutation_p.R219K|TJP3_ENST00000539908.2_Missense_Mutation_p.R164K|TJP3_ENST00000382008.3_Missense_Mutation_p.R200K|TJP3_ENST00000587686.1_Missense_Mutation_p.R219K|TJP3_ENST00000589378.1_Missense_Mutation_p.R209K	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	200	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTGAAGAGGAGAGACAGC	0.612000													13	38					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64573727	64573727	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:64573727C>T	ENST00000337652.1	-	7	1544	c.1041G>A	c.(1039-1041)gcG>gcA	p.A347A	MEN1_ENST00000377321.1_Silent_p.A307A|MEN1_ENST00000377313.1_Silent_p.A347A|MEN1_ENST00000377316.2_Silent_p.A342A|MEN1_ENST00000377326.3_Silent_p.A342A|MEN1_ENST00000315422.4_Silent_p.A342A|MEN1_ENST00000312049.6_Silent_p.A342A|MEN1_ENST00000443283.1_Silent_p.A347A|MEN1_ENST00000394374.2_Silent_p.A347A|MEN1_ENST00000394376.1_Silent_p.A347A|MEN1_ENST00000478548.1_5'UTR	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	347	Interaction with FANCD2.		A -> P (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TGGCCGTGTCCGCCCAGGCCT	0.597000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	49					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796666	21796666	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:21796666G>A	ENST00000206660.6	+	18	2979	c.2979G>A	c.(2977-2979)aaG>aaA	p.K993K	RPGRIP1_ENST00000557771.1_Silent_p.K955K|RPGRIP1_ENST00000556336.1_Silent_p.K650K|RPGRIP1_ENST00000307974.4_Silent_p.K352K|RPGRIP1_ENST00000400017.2_Silent_p.K993K|RPGRIP1_ENST00000382933.4_Silent_p.K319K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	993	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGAAAGAAAGGAGAAGGAGC	0.433000													11	44					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6984370	6984370	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:6984370G>A	ENST00000381309.3	+	10	1885	c.1320G>A	c.(1318-1320)gtG>gtA	p.V440V	KDM4C_ENST00000428870.2_Silent_p.V127V|KDM4C_ENST00000535193.1_Silent_p.V462V|KDM4C_ENST00000442236.2_Silent_p.V259V|KDM4C_ENST00000543771.1_Silent_p.V440V|KDM4C_ENST00000536108.1_Silent_p.V259V|KDM4C_ENST00000381306.3_Silent_p.V440V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	440					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GGATGCAGGTGGAGCAGAATT	0.418000													19	49					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538333	55538333	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:55538333G>A	ENST00000220676.1	+	4	2039	c.1891G>A	c.(1891-1893)Gct>Act	p.A631T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	631					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)			TGAGGCTCCAGCTTCAGAAGC	0.358000													17	34					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285719	48285719	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:48285719C>T	ENST00000320048.1	+	1	307	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	103					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						GTTTTCCCTCCATTTCTTTGG	0.498000													17	30					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204216589	204216589	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:204216589C>T	ENST00000272203.3	-	13	2141		c.e13-1		PLEKHA6_ENST00000414478.1_Splice_Site	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6											breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGTCAGGGCCTACGGGGGAA	0.567000													5	15					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850706	167850706	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:167850706G>A	ENST00000265293.4	+	11	1945	c.1443G>A	c.(1441-1443)gtG>gtA	p.V481V	WWC1_ENST00000521089.1_Silent_p.V481V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	481					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGAGCAAGGTGGAGTTCCTGC	0.617000													14	70					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102994868	102994868	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:102994868G>A	ENST00000504592.1	+	20	2699	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	BANK1_ENST00000444316.2_Missense_Mutation_p.E746K|BANK1_ENST00000322953.4_Missense_Mutation_p.E776K|BANK1_ENST00000428908.1_Missense_Mutation_p.E643K|BANK1_ENST00000508653.1_Missense_Mutation_p.E643K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	776					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGTTGAAAAGGAATTTGGTTT	0.328000													13	55					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841772	5841772	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5841772C>T	ENST00000317037.2	+	1	229	c.207C>T	c.(205-207)tcC>tcT	p.S69S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGCTCTCCTTCACTGATG	0.537000													46	101					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916510	13916510	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:13916510G>A	ENST00000285018.4	-	2	536	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	78					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGGCCATTGCGGAACTGAAAC	0.607000													9	38					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129137115	129137115	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:129137115G>A	ENST00000505956.1	-	3	825	c.663C>T	c.(661-663)ttC>ttT	p.F221F	EFCAB12_ENST00000326085.3_Silent_p.F221F	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CAGCCGCGATGAACTCCTCCC	0.557000													8	19					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303687	151303687	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:151303687C>T	ENST00000370323.4	-	4	722	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E136K|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	136	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCACCTTTTCATCTATCTCA	0.453000													52	28					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89574082	89574082	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:89574082C>T	ENST00000402738.1	+	6	765	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	HERC3_ENST00000407637.1_Missense_Mutation_p.P176S|HERC3_ENST00000264345.3_Missense_Mutation_p.P176S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	176					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAAGGAGTTCCCCTCCCAAGC	0.562000													10	25					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712557	70712557	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:70712557C>T	ENST00000530196.1	-	0	1961					NR_003951.1																						TACCATCTTTCACTGCACCAA	0.448000													13	29					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439756	150439756	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150439756G>A	ENST00000358647.3	+	3	896	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAAGACCTGGTGCGGGAGTG	0.567000													45	82					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4856149	4856149	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:4856149C>T	ENST00000323997.6	+	3	277	c.145C>T	c.(145-147)Cta>Tta	p.L49L	ENO3_ENST00000518175.1_Silent_p.L49L|ENO3_ENST00000519584.1_Silent_p.L49L	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	49					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGCTCTGGAACTAAGAGACGG	0.597000													4	17					0	0	1	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494378	25494378	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:25494378G>A	ENST00000365503.1	+	0	34					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						TTGTCCTGAAGAGAGGTGATG	0.512000													57	205					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31733693	31733693	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31733693G>A	ENST00000375686.3	-	16	2703	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	VWA7_ENST00000375688.4_Silent_p.F822F	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	822						extracellular region											GGAGCCGGAGGAAAGCATGAG	0.617000													73	322					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641814	142641814	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142641814G>A	ENST00000355265.2	-	12	1803	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	443					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGATCGCAGTGAATAATTTCA	0.592000													9	29					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64691225	64691225	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:64691225A>G	ENST00000357395.3	+	114	20659	c.9515A>G	c.(9514-9516)gAc>gGc	p.D3172G	SYNE2_ENST00000394768.2_Missense_Mutation_p.D3172G|SYNE2_ENST00000358025.3_Missense_Mutation_p.D6810G|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.D6787G|SYNE2_ENST00000554584.1_Missense_Mutation_p.D6703G|SYNE2_ENST00000555022.1_Missense_Mutation_p.D665G|SYNE2_ENST00000555002.1_Missense_Mutation_p.D3444G|SYNE2_ENST00000441438.2_Missense_Mutation_p.D332G|SYNE2_ENST00000458046.2_Missense_Mutation_p.D458G|SYNE2_ENST00000554805.1_Missense_Mutation_p.D570G			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6787					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACTCGGGGGACCAGCCTCCT	0.507000													27	62					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797731	34797731	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:34797731G>A	ENST00000338074.2	+	15	2151	c.1990G>A	c.(1990-1992)Ggg>Agg	p.G664R	EPB41L1_ENST00000202028.5_Missense_Mutation_p.G590R|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G590R|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G664R|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G555R|EPB41L1_ENST00000373946.3_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	664					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCTCAACAAGGGGGCCCCCAG	0.637000													18	45					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79166162	79166162	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:79166162C>T	ENST00000269392.4	-	21	2834	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	AZI1_ENST00000575907.1_Missense_Mutation_p.E827K|AZI1_ENST00000374782.3_Missense_Mutation_p.E824K|AZI1_ENST00000450824.2_Missense_Mutation_p.E860K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	863					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCTCCAGCTCCAGCTGCTGC	0.716000													5	16					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43809050	43809050	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:43809050C>T	ENST00000291532.3	-	4	1265	c.310G>A	c.(310-312)Gag>Aag	p.E104K	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E102K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E104K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E188K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E104K|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	104	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGCGGTACTCGTCCTCCCCG	0.532000													16	46					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54926178	54926178	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:54926178G>A	ENST00000284061.3	+	6	1190	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	337	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.R337Q(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CAGGTTTTGCGAAATGTAATG	0.408000													56	35					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27216230	27216230	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:27216230C>T	ENST00000429845.2	-	28	2962	c.2600G>A	c.(2599-2601)gGc>gAc	p.G867D	NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000295720.6_Missense_Mutation_p.G179D|NEK10_ENST00000383771.4_Missense_Mutation_p.G179D|NEK10_ENST00000383770.3_Missense_Mutation_p.G179D|NEK10_ENST00000357467.2_Missense_Mutation_p.G264D			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	867							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCCTGGAAGCCTTCAGGGGG	0.502000													37	105					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172282	95172282	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:95172282G>A	ENST00000027335.3	-	12	1592	c.1468C>T	c.(1468-1470)Cat>Tat	p.H490Y	CDH17_ENST00000441892.2_Missense_Mutation_p.H276Y|CDH17_ENST00000450165.2_Missense_Mutation_p.H490Y	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	490	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTATGATATGATACAGAATT	0.443000													17	60					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767634	105767634	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:105767634G>A	ENST00000374798.3	+	5	791	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	CYLC2_ENST00000487798.1_Missense_Mutation_p.E241K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	241	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.E241Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAAGCAGATGAAAAGAAGGA	0.358000													11	43					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434949	49434949	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:49434949G>A	ENST00000301067.7	-	31	6603	c.6604C>T	c.(6604-6606)Cct>Tct	p.P2202S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCCCCGTAGGACTAGGATAG	0.701000													3	15					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97941458	97941458	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:97941458G>A	ENST00000005260.8	-	8	973	c.758C>T	c.(757-759)cCc>cTc	p.P253L	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	253					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAGACACGGGGGTAGAGGC	0.483000													49	114					0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89008048	89008048	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:89008048G>A	ENST00000312475.4	-	3	516	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	159						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CTGACTAACAGGACAAGGTTC	0.517000													40	67					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588023	247588023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247588023G>A	ENST00000366497.2	+	4	2058	c.1278G>A	c.(1276-1278)atG>atA	p.M426I	NLRP3_ENST00000391827.2_Missense_Mutation_p.M426I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.M426I|NLRP3_ENST00000348069.2_Missense_Mutation_p.M426I|NLRP3_ENST00000391828.3_Missense_Mutation_p.M426I|NLRP3_ENST00000336119.3_Missense_Mutation_p.M426I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	426	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AACAGCAGATGGAGAGTGGCA	0.587000													15	54					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28965101	28965101	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:28965101G>A	ENST00000359747.4	+	2	80	c.51G>A	c.(49-51)gtG>gtA	p.V17V	DSG4_ENST00000308128.4_Silent_p.V17V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	17					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAAAACAGGTGGTGATGGAAG	0.234000													10	38					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27436456	27436456	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:27436456G>A	ENST00000326799.3	-	3	458	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	YME1L1_ENST00000477432.1_Missense_Mutation_p.R104C|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	104					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGTTCTGGACGGAtgtgccag	0.448000													3	16					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169021419	169021419	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:169021419G>A	ENST00000265295.4	+	6	982	c.703G>A	c.(703-705)Gat>Aat	p.D235N	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AGCAAATCAAGATCTTCAGGT	0.363000													23	41					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394789	233394789	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:233394789G>A	ENST00000258229.8	-	5	1053	c.819C>T	c.(817-819)ttC>ttT	p.F273F	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	273						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCACGGCTGGAAAGAAACGT	0.522000													22	43					0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21304743	21304743	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:21304743G>A	ENST00000259555.4	-	1	569	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATCTCATGATTTCTGCTC	0.398000													49	78					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041756	14041756	+	Missense_Mutation	SNP	C	C	T	rs12928650		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:14041756C>T	ENST00000311895.7	+	11	2312	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	768	Interaction with EME1 and ERCC1.		S -> F (in dbSNP:rs12928650).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAGCCTTTCTCTCTCACTTCC	0.493000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				28	73					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453842	84453842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:84453842C>T	ENST00000377084.2	-	1	2686	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	601						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCCCGGTCTCCGCCAACCCA	0.572000													6	12					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41245309	41245309	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:41245309C>T	ENST00000263370.2	+	7	1929	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	632						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCGGCCTGGCCAAGGTCTGGA	0.657000													12	29					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30535997	30535997	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:30535997G>A	ENST00000380412.5	-	2	1639	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	ZNF768_ENST00000562803.1_Silent_p.A457A	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	488			A -> S (in dbSNP:rs3751848).		regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCCGCACACGGCGCACCTGT	0.657000													5	15					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466945	56466945	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:56466945C>T	ENST00000291971.3	+	3	1592	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	NLRP8_ENST00000590542.1_Silent_p.L507L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	507	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTTTACCCTCGTGACTTTTC	0.463000													35	112					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958828	10958828	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:10958828G>A	ENST00000240615.2	-	1	1064	c.752C>T	c.(751-753)tCt>tTt	p.S251F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	251					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATCAAAATAGAAGAAATATA	0.373000													12	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066247	9066247	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9066247G>A	ENST00000397910.4	-	3	21402	c.21199C>T	c.(21199-21201)Cca>Tca	p.P7067S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7069	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						TCTGAGTGTGGAAATCTCTGA	0.502000													27	67					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580725	7580725	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:7580725G>A	ENST00000379802.3	+	23	4643	c.4302G>A	c.(4300-4302)aaG>aaA	p.K1434K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1434	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACAGCAAAAGGCCACTGGCT	0.473000													16	62					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063027	21063027	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21063027C>T	ENST00000261383.3	-	29	4201	c.4202G>A	c.(4201-4203)cGg>cAg	p.R1401Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1401Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTT	0.567000													23	107					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065535	9065535	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9065535G>A	ENST00000397910.4	-	3	22114	c.21911C>T	c.(21910-21912)tCc>tTc	p.S7304F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7306	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7304Y(2)|p.S2937Y(1)		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						TCTTGTGGTGGATATTTCTGG	0.463000													20	37					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899415	133899415	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:133899415G>A	ENST00000220616.4	+	9	1838	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	TG_ENST00000377869.1_Missense_Mutation_p.E600K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	600					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGATGTGATGGAAACGGTACT	0.473000													21	70					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35434313	35434313	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:35434313T>C	ENST00000237536.4	-	9	3203	c.2862A>G	c.(2860-2862)atA>atG	p.I954M	SOGA1_ENST00000456801.2_Missense_Mutation_p.I557M|SOGA1_ENST00000357779.3_Missense_Mutation_p.I716M|SOGA1_ENST00000279034.5_Missense_Mutation_p.I716M	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	716										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCTGAGCGTTTATCTCCTCTT	0.483000													9	28					0	0	1	0	0
TRMT10B	158234	broad.mit.edu	37	9	37769949	37769949	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:37769949A>G	ENST00000297994.3	+	6	650	c.585A>G	c.(583-585)acA>acG	p.T195T	TRMT10B_ENST00000377754.2_Silent_p.T100T|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Silent_p.T117T|TRMT10B_ENST00000537911.1_Silent_p.T144T	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		TAGACATAACAGAAGAAGACT	0.458000													34	85					0	0	1	0	0
F8A1	8263	broad.mit.edu	37	X	154115738	154115738	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:154115738C>T	ENST00000369446.2	+	1	1104	c.1089C>T	c.(1087-1089)acC>acT	p.T363T	F8_ENST00000360256.4_Intron	NM_012151.3	NP_036283.2			coagulation factor VIII-associated 1											endometrium(1)|lung(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCAAGAAACCATCTCCCCCT	0.527000													45	171					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190719194	190719194	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:190719194C>T	ENST00000441310.2	+	9	1429	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F	PMS1_ENST00000409823.3_Missense_Mutation_p.S360F|PMS1_ENST00000447232.2_Missense_Mutation_p.S399F|PMS1_ENST00000432292.3_Missense_Mutation_p.S223F|PMS1_ENST00000418224.3_Missense_Mutation_p.S223F|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	399					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATGATGAATCTGGAAAAAAC	0.299000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					42	31					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680408	159680408	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:159680408G>A	ENST00000393977.3	-	7	1570	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.P381S	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	429						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCGGTGGGGAACATGTGG	0.582000													13	34					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493404	20493404	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:20493404C>T	ENST00000504154.1	+	9	1048	c.796C>T	c.(796-798)Cct>Tct	p.P266S	SLIT2_ENST00000273739.5_Missense_Mutation_p.P270S|SLIT2_ENST00000503837.1_Missense_Mutation_p.P270S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P266S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	266	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTTATGGCTCCTTCTTGTAG	0.408000													20	69					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105085	207105085	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:207105085C>T	ENST00000356495.4	-	9	2254	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	691						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTCCAAATTCCCTGGAGTTC	0.517000													28	89					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60369017	60369017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:60369017G>A	ENST00000296597.5	+	2	320	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	NDUFAF2_ENST00000511107.1_Intron|NDUFAF2_ENST00000512623.1_3'UTR	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	65						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				CTATGAAGCAGGGGATATTCC	0.308000													39	90					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31201606	31201606	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:31201606C>T	ENST00000254108.7	+	12	1284	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	FUS_ENST00000568685.1_Silent_p.G394G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.G392G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	393	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GACCCATGGGCCgtggaggct	0.567000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								21	47					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22412947	22412947	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:22412947A>T	ENST00000344548.3	+	5	445	c.194A>T	c.(193-195)gAc>gTc	p.D65V	CDC42_ENST00000421089.2_Missense_Mutation_p.D107V|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Missense_Mutation_p.D65V|CDC42_ENST00000315554.8_Missense_Mutation_p.D65V	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	65					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GAGGATTATGACAGATTACGA	0.378000													15	58					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142190941	142190941	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:142190941C>T	ENST00000519811.1	+	17	3002	c.2932C>T	c.(2932-2934)Ctc>Ttc	p.L978F	DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000262585.2_Missense_Mutation_p.L898F|DENND3_ENST00000424248.1_Missense_Mutation_p.L846F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	898										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACGTGCTGCTCTACACTCC	0.582000													17	54					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913077	54913077	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:54913077G>A	ENST00000474759.1	+	19	1791	c.1743G>A	c.(1741-1743)ggG>ggA	p.G581G	CACNA2D3_ENST00000288197.5_Silent_p.G581G|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.G487G|CACNA2D3_ENST00000415676.2_Silent_p.G581G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	581						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GAAAGACGGGGAAGTTTTCCA	0.368000													5	20					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005018	187005018	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:187005018G>A	ENST00000296795.2	+	4	2282	c.2178G>A	c.(2176-2178)gaG>gaA	p.E726E	TLR3_ENST00000504367.1_Silent_p.E449E	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	726					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCCACTTTGAGGGCTGGAGGA	0.363000													49	59					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350390	100350390	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100350390C>T	ENST00000542585.1	+	0	2810				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCCCCATTGAAGA	0.502000													20	32					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56913085	56913085	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:56913085C>T	ENST00000438926.2	+	10	1310	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	SLC12A3_ENST00000262502.5_Silent_p.F426F|SLC12A3_ENST00000563236.1_Silent_p.F427F|SLC12A3_ENST00000566786.1_Silent_p.F426F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	427					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCTGGAACTTCACCGAGTGCA	0.632000													8	9					0	0	1	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282795	107282795	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:107282795C>T	ENST00000390639.2	-	0	401																											TGGTGTATCTCGCACAGTAAT	0.522000													15	54					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118042153	118042153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:118042153C>T	ENST00000356554.3	+	11	2389	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	552					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAGATACAGGCAGTGGGGCTG	0.468000													14	46					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14533108	14533108	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:14533108A>G	ENST00000358970.5	-	5	1006	c.1007T>C	c.(1006-1008)cTa>cCa	p.L336P	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	336										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTGTCCAGATAGATCTTGAGA	0.363000													34	119					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443763	5443763	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5443763T>C	ENST00000300778.4	+	1	423	c.333T>C	c.(331-333)ttT>ttC	p.F111F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTCTCCTTTATGGAGTCTT	0.493000													38	69					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333457	220333457	+	Splice_Site	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220333457T>C	ENST00000312358.7	+	11	3432	c.3301_splice	c.e11+1	p.F1100_splice	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1100	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGACTCATTTTGGTACGGCCC	0.662000													16	43					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581216	82581216	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:82581216C>T	ENST00000423517.2	-	5	9390	c.9053G>A	c.(9052-9054)gGa>gAa	p.G3018E	PCLO_ENST00000333891.8_Missense_Mutation_p.G3018E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2949					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGTCAGTTCCTTCAGAATA	0.403000													24	70					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9453439	9453439	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:9453439G>A	ENST00000378501.2	+	33	3332	c.3317G>A	c.(3316-3318)cGa>cAa	p.R1106Q	PLCB4_ENST00000278655.4_Missense_Mutation_p.R1106Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R1118Q|PLCB4_ENST00000414679.2_Missense_Mutation_p.R1118Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.R1106Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.R1106Q	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1106					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTTTTAGGCGAGTCAGGGAG	0.303000													23	32					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94341757	94341757	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:94341757C>T	ENST00000299001.6	+	15	2059	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	616	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGTTAAAGTCCCTGATGGTGG	0.403000													29	65					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76423412	76423412	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:76423412C>T	ENST00000357063.3	+	28	5764	c.4504C>T	c.(4504-4506)Cct>Tct	p.P1502S	LMO7_ENST00000377534.3_Missense_Mutation_p.P1502S|LMO7_ENST00000321797.8_Missense_Mutation_p.P1217S|LMO7_ENST00000526202.1_Missense_Mutation_p.P1094S|LMO7_ENST00000465261.2_Missense_Mutation_p.P1217S|LMO7_ENST00000341547.4_Missense_Mutation_p.P1168S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1502						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGTTAGTCTTCCTGGGATCAT	0.453000													12	35					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220406443	220406443	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220406443G>A	ENST00000243776.6	-	2	1031	c.783C>T	c.(781-783)ccC>ccT	p.P261P	CHPF_ENST00000373891.2_Silent_p.P261P|CHPF_ENST00000535926.1_Silent_p.P99P	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	261						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTTCCAGGTGGGGGCGCAGTT	0.687000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175332903	175332903	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:175332903G>A	ENST00000367674.1	-	13	3356	c.2648C>T	c.(2647-2649)tCc>tTc	p.S883F	TNR_ENST00000263525.2_Missense_Mutation_p.S883F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	883	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGGCTCCAGGAGACCATCAC	0.438000													22	42					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56996359	56996359	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:56996359G>A	ENST00000559237.1	-	3	779	c.96C>T	c.(94-96)atC>atT	p.I32I	ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Silent_p.I32I|ZNF280D_ENST00000267807.7_Silent_p.I45I|ZNF280D_ENST00000558320.1_Silent_p.I45I	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CGCCAACAAAGATTGGCTCAT	0.358000													9	12					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255703	140255703	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140255703G>A	ENST00000398631.2	+	1	646	c.646G>A	c.(646-648)Gat>Aat	p.D216N	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTAATCGATGGCGGTAA	0.393000													11	52					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081333	95081333	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:95081333G>A	ENST00000553947.1	+	5	1518	c.630G>A	c.(628-630)aaG>aaA	p.K210K	SERPINA3_ENST00000393078.3_Silent_p.K185K|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Silent_p.K185K|SERPINA3_ENST00000467132.1_Silent_p.K185K			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	185					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACTACGTGAAGAATGGAACTA	0.493000													28	64					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376264	2376264	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:2376264G>A	ENST00000301732.5	-	5	766	c.66C>T	c.(64-66)gtC>gtT	p.V22V	ABCA3_ENST00000382381.3_Silent_p.V22V|ABCA3_ENST00000567910.1_Silent_p.V22V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	22					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCGTCACCAGGACCTTCCGCT	0.567000													21	45					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													3	25					6.4e-05	6.45328e-05	1	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8215590	8215590	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:8215590C>T	ENST00000361926.3	+	2	343	c.233C>T	c.(232-234)cCc>cTc	p.P78L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P78L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	78	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTTTTGCCCCCCTCAGCTTCT	0.622000													34	48					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427753	47427753	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:47427753G>A	ENST00000295454.3	+	9	1435	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	GABRB1_ENST00000538619.1_Silent_p.S311S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	381					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGAGTGGCTCGGAAGTGCTCA	0.597000													20	61					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697734	109697734	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:109697734C>T	ENST00000465301.2	+	3	4135	c.3889C>T	c.(3889-3891)Cta>Tta	p.L1297L	RGAG1_ENST00000540313.1_Silent_p.L1297L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1297										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGCTGGCAGCCTAAAGGAGCT	0.532000													38	26					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495659	161495659	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:161495659G>A	ENST00000309758.4	+	1	1624	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	404					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGTCTCTGGGGCTGGAGACA	0.602000													5	32					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126143867	126143867	+	Silent	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:126143867C>G	ENST00000373624.2	-	22	3075	c.2874G>C	c.(2872-2874)ctG>ctC	p.L958L	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.L743L|DENND1A_ENST00000394219.3_Silent_p.L969L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	958	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTGTTGGCTCCAGGCCTTGAG	0.652000													8	33					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193751	7193751	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7193751G>A	ENST00000007699.5	-	5	626	c.563C>T	c.(562-564)cCc>cTc	p.P188L	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	188	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGCAACTGAGGGAGGCCGGGG	0.652000													27	66					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261147	134261147	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:134261147G>C	ENST00000457545.2	+	9	1050	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	AKR1B15_ENST00000423958.1_Missense_Mutation_p.E236Q	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	264							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CAAGATTAAGGAGATTGCTGC	0.448000													8	31					0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48852045	48852045	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:48852045C>T	ENST00000425583.2	+	6	598	c.323C>T	c.(322-324)tCc>tTc	p.S108F	OCIAD1_ENST00000444354.2_Missense_Mutation_p.S108F|OCIAD1_ENST00000509122.1_Missense_Mutation_p.S81F|OCIAD1_ENST00000506801.1_Missense_Mutation_p.S54F|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Missense_Mutation_p.S108F|OCIAD1_ENST00000381473.3_Missense_Mutation_p.S108F|OCIAD1_ENST00000513391.2_Missense_Mutation_p.S108F|OCIAD1_ENST00000396448.2_Missense_Mutation_p.S108F|OCIAD1_ENST00000264312.7_Missense_Mutation_p.S108F	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	108	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						CTTGAAAATTCCCCCCTTGGA	0.363000													14	45					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547173	35547173	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:35547173G>A	ENST00000455600.1	+	2	1224	c.655G>A	c.(655-657)Gat>Aat	p.D219N	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	219						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAGCCAGCGATACCTCTGG	0.617000													13	62					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751458	140751458	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140751458G>A	ENST00000576222.1	+	1	1628	c.1497G>A	c.(1495-1497)cgG>cgA	p.R499R	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCCGCGGGAGCTGTCGT	0.652000													27	55					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116085403	116085403	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:116085403G>A	ENST00000374193.4	-	6	603	c.357C>T	c.(355-357)ttC>ttT	p.F119F	WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000341761.4_Silent_p.F118F|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	119										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GAGAGGCACTGAAGAACTGGC	0.498000													15	35					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17062058	17062058	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:17062058C>T	ENST00000395811.5	+	14	1877	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F	MPRIP_ENST00000395804.3_Silent_p.F596F|MPRIP_ENST00000444976.1_Silent_p.F558F|MPRIP_ENST00000341712.4_Silent_p.F596F	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	596	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding	p.R587_G597delRRREERRKRFG(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAAGCGCTTCGGGATGCTCG	0.711000													10	24					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221123	48221123	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:48221123G>A	ENST00000394747.1	-	20	3271	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Silent_p.F974F|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.F974F|ABCC11_ENST00000356608.2_Silent_p.F974F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	974	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TATAATAAATGAAGCAAATAA	0.483000													21	23					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39882213	39882213	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:39882213C>T	ENST00000260356.5	+	13	2299	c.2134C>T	c.(2134-2136)Cac>Tac	p.H712Y		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	712					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCGACTTACCACTGCAAAAA	0.512000													3	9					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69732812	69732812	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:69732812C>T	ENST00000260363.4	+	17	2170	c.2053C>T	c.(2053-2055)Cca>Tca	p.P685S	KIF23_ENST00000395392.2_Missense_Mutation_p.P685S|KIF23_ENST00000352331.4_Missense_Mutation_p.P685S|KIF23_ENST00000537891.1_Missense_Mutation_p.P502S|KIF23_ENST00000558585.1_Missense_Mutation_p.P502S|KIF23_ENST00000559279.1_Missense_Mutation_p.P685S	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	685					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATCTGTTTCTCCATCACCTGT	0.373000													8	22					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186304547	186304547	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:186304547G>A	ENST00000367478.3	-	34	5130	c.4834C>T	c.(4834-4836)Cgc>Tgc	p.R1612C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1612					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTTCCAAGCGACTAATTCGA	0.428000			T	NTRK1	papillary thyroid								33	69					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48577174	48577174	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:48577174G>A	ENST00000358350.4	-	25	3410	c.2806C>T	c.(2806-2808)Ctt>Ttt	p.L936F	FRYL_ENST00000503238.1_Missense_Mutation_p.L936F|FRYL_ENST00000507711.1_Missense_Mutation_p.L936F|FRYL_ENST00000537810.1_Missense_Mutation_p.L936F|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	936					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCTAGAACAAGGGATTCTGTG	0.393000													16	44					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080534	194080534	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:194080534C>T	ENST00000347624.3	-	2	1324	c.1239G>A	c.(1237-1239)ggG>ggA	p.G413G	LRRC15_ENST00000439944.2_Silent_p.G419G|LRRC15_ENST00000428839.1_Silent_p.G419G	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	413						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CACACAGTTTCCCCAGGTGAT	0.567000													4	26					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262882	69262882	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:69262882C>T	ENST00000408913.2	-	1	308	c.130G>A	c.(130-132)Gac>Aac	p.D44N				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	298					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAGCGCGTCCCTTCGTGGG	0.667000													14	36					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41646435	41646435	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:41646435C>T	ENST00000318588.9	-	3	319	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CASK_ENST00000378154.1_Missense_Mutation_p.E92K|CASK_ENST00000421587.2_Missense_Mutation_p.E92K|CASK_ENST00000442742.2_Missense_Mutation_p.E92K|CASK_ENST00000378166.4_Missense_Mutation_p.E92K|CASK_ENST00000378163.1_Missense_Mutation_p.E92K|CASK_ENST00000361962.4_Missense_Mutation_p.E92K|CASK_ENST00000378158.1_Missense_Mutation_p.E92K			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	92	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACTCACAATTCGAAAACCATG	0.358000													24	12					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098652	155098652	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:155098652C>T	ENST00000392825.3	+	5	988	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	GALNT13_ENST00000409237.1_Missense_Mutation_p.R141C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	141	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTGATAAATCGTTCCCCACA	0.373000													25	18					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141115615	141115615	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:141115615A>G	ENST00000389484.3	-	74	12299	c.11328T>C	c.(11326-11328)ccT>ccC	p.P3776P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3776	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAGATCCATAGGGATGCATT	0.408000										TSP Lung(27;0.18)			25	65					0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45914465	45914465	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:45914465G>A	ENST00000269025.4	+	8	1308	c.945G>A	c.(943-945)acG>acA	p.T315T		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCAAAACTACGGCCAAGAGAA	0.582000													20	65					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33989090	33989090	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:33989090T>A	ENST00000379238.1	-	5	440	c.323A>T	c.(322-324)aAt>aTt	p.N108I	UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.N108I|UBAP2_ENST00000360802.1_Missense_Mutation_p.N108I|UBAP2_ENST00000418786.2_Missense_Mutation_p.N108I|UBAP2_ENST00000539807.1_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	108										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTTTGCAAAATTCTTTTTCTT	0.388000													14	40					0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13873722	13873722	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:13873722C>T	ENST00000586600.1	+	11	1534	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.P344L			P13994	CC130_HUMAN	coiled-coil domain containing 130	344					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			ACTGAGACCCCCAAGTGCAGC	0.697000													12	18					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31196793	31196793	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:31196793T>A	ENST00000357033.4	-	70	10422	c.10216A>T	c.(10216-10218)Atg>Ttg	p.M3406L	DMD_ENST00000378677.2_Missense_Mutation_p.M3402L|DMD_ENST00000378680.2_Missense_Mutation_p.M338L|DMD_ENST00000343523.2_Missense_Mutation_p.M946L|DMD_ENST00000361471.4_Missense_Mutation_p.M338L|DMD_ENST00000378707.3_Missense_Mutation_p.M946L|DMD_ENST00000474231.1_Missense_Mutation_p.M946L|DMD_ENST00000541735.1_Missense_Mutation_p.M946L|DMD_ENST00000378723.3_Missense_Mutation_p.M338L|DMD_ENST00000378702.4_Missense_Mutation_p.M338L|DMD_ENST00000359836.1_Missense_Mutation_p.M946L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3406	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACGTTTCCATGTTGTCCCCC	0.448000													19	47					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77255279	77255279	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:77255279C>T	ENST00000388914.3	-	18	2858	c.2706G>A	c.(2704-2706)agG>agA	p.R902R		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	902										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTTTCAGGTCCCTTGTTGGAT	0.413000													32	58					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221363	140221363	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140221363C>T	ENST00000531613.1	+	1	457	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P153S|PCDHA6_ENST00000527624.1_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)			CTCTCGGTTTCCGCTAGAGGG	0.478000													22	66					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569593	49569593	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:49569593C>T	ENST00000545947.1	+	6	2371	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	DAG1_ENST00000538711.1_Missense_Mutation_p.S550F|DAG1_ENST00000515359.2_Missense_Mutation_p.S550F|DAG1_ENST00000539901.1_Missense_Mutation_p.S550F|DAG1_ENST00000308775.2_Missense_Mutation_p.S550F|DAG1_ENST00000541308.1_Missense_Mutation_p.S550F	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	550	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGCGAGAAGTCCTGGGTACAG	0.552000													5	23					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603445	28603445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:28603445C>T	ENST00000533150.1	-	4	1809	c.693G>A	c.(691-693)tgG>tgA	p.W231*	SULT1A2_ENST00000395630.1_Nonsense_Mutation_p.W264*|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.W264*			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	264					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGGTGGTCTTCCAGTCCCCAG	0.632000													10	38					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137531214	137531214	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:137531214G>A	ENST00000424189.2	-	1	624	c.395C>T	c.(394-396)tCg>tTg	p.S132L	DGKI_ENST00000288490.5_Missense_Mutation_p.S132L|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.S132L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	132					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTACCTGTACGAGACCTGCTT	0.687000													5	17					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33867346	33867346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:33867346C>T	ENST00000300255.2	+	5	1117	c.644C>T	c.(643-645)tCt>tTt	p.S215F	EVA1C_ENST00000382699.3_Missense_Mutation_p.S215F|EVA1C_ENST00000401402.3_Intron	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		GATTGCTTGTCTTACTCAGCT	0.473000													20	59					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620628	7620628	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:7620628C>T	ENST00000486284.1	+	8	2309	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	GRM7_ENST00000403881.1_Missense_Mutation_p.R679W|GRM7_ENST00000357716.4_Missense_Mutation_p.R679W|GRM7_ENST00000402647.2_Missense_Mutation_p.R679W|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.R679W	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	679					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAAAACAAATCGGATTTATCG	0.448000													14	45					0	0	1	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328340	21328340	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21328340C>T	ENST00000444326.1	+	0	456																											ATCACAGCTTCCTTAATTTCT	0.418000													38	100					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002026	98002026	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:98002026C>T	ENST00000355273.2	+	1	295	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GATGATATCTCTGTCTGAATG	0.373000													34	105					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874420	36874420	+	Silent	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:36874420G>T	ENST00000301807.6	-	21	6769	c.4872C>A	c.(4870-4872)gcC>gcA	p.A1624A	TRANK1_ENST00000429976.2_Silent_p.A2174A|TRANK1_ENST00000428977.2_Silent_p.A1624A	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2174					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTAAACACTTGGCTTCACAAC	0.423000													6	13					0.00116845	0.00117512	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139153511	139153511	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:139153511G>A	ENST00000395297.1	-	17	3890	c.3720C>T	c.(3718-3720)ctC>ctT	p.L1240L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1240										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGAACGTGTGGAGTTTGTTGA	0.522000										HNSCC(54;0.14)			31	58					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632730	158632730	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158632730C>T	ENST00000368148.3	-	17	2406	c.2226G>A	c.(2224-2226)caG>caA	p.Q742Q	SPTA1_ENST00000368147.3_Silent_p.Q742Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	742					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGATATCCACCTGATCCTAAG	0.423000													14	39					0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77328215	77328215	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:77328215T>G	ENST00000558012.1	+	14	1547	c.1058T>G	c.(1057-1059)aTa>aGa	p.I353R	PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.I350R|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.I334R|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.I333R	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	353					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GTGCAGGAGATACAGGGAAAC	0.612000													3	20					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815707	158815707	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158815707G>A	ENST00000368141.4	+	5	1162	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	301	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338000													20	36					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144839	25144839	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:25144839G>A	ENST00000453498.1	+	0	380																											GCAAATATGGGAACTCCAATG	0.438000													10	22					0	0	1	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457778	15457778	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:15457778T>C	ENST00000360151.4	-	8	790	c.791A>G	c.(790-792)aAg>aGg	p.K264R		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		GGAAGGTGTCTTGAGGCTCAG	0.522000													11	99					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943739	9943739	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:9943739G>A	ENST00000396573.2	-	6	1511	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	GRIN2A_ENST00000535259.1_Missense_Mutation_p.P244L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P401L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P401L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P401L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P401L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	401					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401Q(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCATCCGGCTCACAGTC	0.587000													24	55					0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261828	23261828	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:23261828G>A	ENST00000450802.3	+	12	1038	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K																								CCTGAGGAAGGAACTAGAGAG	0.577000													17	52					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509951	106509951	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:106509951G>A	ENST00000359195.3	+	2	2255	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E649K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E649K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	649					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCAgaaactggagagcttgga	0.438000													10	15					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78601051	78601051	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:78601051G>A	ENST00000545128.1	+	3	839	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E101K|PCSK5_ENST00000376767.3_Missense_Mutation_p.E101K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	101					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGACAGGTGGAATGGATCCA	0.438000													17	51					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155720062	155720062	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:155720062G>A	ENST00000510397.1	+	4	927	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	RBM46_ENST00000514866.1_Missense_Mutation_p.E250K|RBM46_ENST00000281722.3_Missense_Mutation_p.E250K	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	250	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AACTACAGAGGAAACAATTAA	0.368000													8	11					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30733200	30733200	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:30733200C>T	ENST00000217315.5	+	8	1146	c.806C>T	c.(805-807)tCc>tTc	p.S269F	TM9SF4_ENST00000398022.2_Missense_Mutation_p.S286F			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	286						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCATTAACTCCGTTGTTGTG	0.517000													17	37					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813289	176813289	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176813289C>T	ENST00000324417.5	+	4	418	c.327C>T	c.(325-327)acC>acT	p.T109T	SLC34A1_ENST00000512593.1_Silent_p.T109T	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	109					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATGCTCACCTTCCTCTACC	0.642000													26	68					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36994276	36994276	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:36994276G>A	ENST00000379242.3	+	7	829	c.527G>A	c.(526-528)gGg>gAg	p.G176E	VIT_ENST00000389975.3_Missense_Mutation_p.G176E|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.G176E|VIT_ENST00000404084.1_Missense_Mutation_p.G154E|VIT_ENST00000379241.3_Missense_Mutation_p.G176E	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	176						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTATTCCAGGGACAACTGCA	0.507000													12	24					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94546218	94546218	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:94546218C>T	ENST00000370225.3	-	8	1001	c.915G>A	c.(913-915)caG>caA	p.Q305Q	ABCA4_ENST00000535735.1_Silent_p.Q305Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	305					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GACCACCATTCTGCATGAGGG	0.547000													21	52					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39438412	39438412	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:39438412G>A	ENST00000280481.7	+	16	7868	c.7651_splice	c.e16-1	p.G2551_splice		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2551					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTATCATAGGCATGCTCCCC	0.408000													10	35					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251523	216251523	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:216251523C>T	ENST00000366943.2	-	27	5866	c.5480G>A	c.(5479-5481)gGa>gAa	p.G1827E	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1827E|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1827	Laminin G-like 2.				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)		TGGCTGGTCTCCGGACTCCGA	0.423000										HNSCC(13;0.011)			29	91					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129120720	129120720	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:129120720C>T	ENST00000249344.2	+	19	2079	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	STRIP2_ENST00000435494.2_Missense_Mutation_p.S680F	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TGGAAACATTCCCGGACCATG	0.433000													22	57					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57358459	57358459	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:57358459G>A	ENST00000314922.3	-	1	130	c.54C>T	c.(52-54)ctC>ctT	p.L18L	PENK_ENST00000451791.2_Silent_p.L18L|PENK_ENST00000518770.1_Silent_p.L18L|PENK_ENST00000523051.1_Silent_p.L18L|RP11-17A4.2_ENST00000518662.1_RNA	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	18					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CGGTCGCCAGGAGCCCGGGGC	0.677000													11	18					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380372	107380372	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:107380372G>A	ENST00000259362.1	-	1	113	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCCCCAGAAGGATGACCACAT	0.428000													13	65					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391017	125391017	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:125391017G>A	ENST00000304833.3	-	1	835	c.798C>T	c.(796-798)ttC>ttT	p.F266F	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGGGAGGCTGGAAGTAGACAC	0.522000													18	51					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100929	168100929	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:168100929C>T	ENST00000409195.1	+	9	3116	c.3027C>T	c.(3025-3027)atC>atT	p.I1009I	XIRP2_ENST00000295237.9_Silent_p.I1009I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I787I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	834					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						AAGAAGAAATCGTAAGAGGTG	0.363000													28	21					0	0	1	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457780	15457780	+	Silent	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:15457780G>T	ENST00000360151.4	-	8	788	c.789C>A	c.(787-789)ctC>ctA	p.L263L		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		AAGGTGTCTTGAGGCTCAGGG	0.522000													11	96					0.0135373	0.0136005	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39645692	39645692	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:39645692C>T	ENST00000265708.4	-	9	824	c.721G>A	c.(721-723)Gga>Aga	p.G241R	ADAM2_ENST00000347580.4_Missense_Mutation_p.G222R|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.G241R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	241	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTAGCTTCTCCAGTGGTTGCA	0.284000													19	40					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204375261	204375261	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:204375261C>T	ENST00000367188.4	-	2	2480	c.2101G>A	c.(2101-2103)Gga>Aga	p.G701R	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	701					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AAGCATGTTCCCTGGAGTCTA	0.408000													16	49					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28210782	28210782	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:28210782C>T	ENST00000344423.5	-	5	858	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	ZNF395_ENST00000523202.1_Missense_Mutation_p.G243R|ZNF395_ENST00000523095.1_Missense_Mutation_p.G243R	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	243					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AAAGCATCCCCCAAATACTTG	0.597000													24	45					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680484	72680484	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:72680484C>T	ENST00000261180.4	+	2	899	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	268					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTCAGTTTTCGCCTACACAT	0.363000													34	56					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242309	7242309	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:7242309G>A	ENST00000542285.1	-	4	591	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W				P00736	C1R_HUMAN	complement component 1, r subcomponent	149	EGF-like; calcium-binding (Potential).				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATTTGCTCCGGGAAGCACAT	0.557000													14	23					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234300	21234300	+	Silent	SNP	G	G	A	rs147543230		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:21234300G>A	ENST00000233242.1	-	26	5567	c.5440C>T	c.(5440-5442)Cta>Tta	p.L1814L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1814					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTAGCCGTAGTTTCCCATTG	0.413000													162	455					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90020308	90020308	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:90020308T>G	ENST00000428670.3	-	8	1508	c.1052A>C	c.(1051-1053)aAa>aCa	p.K351T	ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94T|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351T|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351T|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351T			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	351					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAAATTTGCTTTCTTTTTATC	0.373000													12	30					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6690717	6690717	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:6690717C>T	ENST00000245907.6	-	27	3504	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1138					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATGTCTTTCTCGTTGTTGTTC	0.532000													9	27					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558780	140558780	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140558780G>A	ENST00000239444.2	+	1	1410	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		389	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTCAGGAGGATCTACCCTT	0.453000													27	54					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223441931	223441931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:223441931C>T	ENST00000343846.3	-	3	1081	c.448G>A	c.(448-450)Gga>Aga	p.G150R	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G150R|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G150R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	150	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATCTTGAATCCTTCATGACAA	0.423000													25	42					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740899	140740899	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140740899G>A	ENST00000522605.1	+	1	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTCAAAGAACTATTACA	0.483000													30	76					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468395	10468395	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:10468395G>A	ENST00000382483.3	-	4	3436	c.3213C>T	c.(3211-3213)agC>agT	p.S1071S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1071					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGCCCGCAGGCTCACCCTGC	0.687000													6	23					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030289	44030289	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:44030289C>T	ENST00000269439.7	+	5	697	c.646C>T	c.(646-648)Cct>Tct	p.P216S	RNF165_ENST00000543885.1_Missense_Mutation_p.P24S	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	216							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTACCCTTACCCTCAGCTTCA	0.512000													22	49					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519969	169519969	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:169519969G>T	ENST00000367796.3	-	9	1506	c.1305C>A	c.(1303-1305)ttC>ttA	p.F435L	F5_ENST00000367797.3_Missense_Mutation_p.F435L|F5_ENST00000546081.1_Missense_Mutation_p.F298L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	435	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCATATTTTTGAACACGATCT	0.373000													8	23					0.000157383	0.000158446	1	1	0
FLNC	2318	broad.mit.edu	37	7	128494210	128494210	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:128494210G>A	ENST00000325888.8	+	40	6928	c.6667G>A	c.(6667-6669)Ggg>Agg	p.G2223R	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G2190R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2223	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCTGTGTTTGGGGACTTCCT	0.716000													6	23					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453303	21453303	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:21453303C>T	ENST00000307378.6	-	9	1609	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E295K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E297K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E165K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E165K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	297					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCATATTTTTCCTTCTTGACC	0.294000													10	27					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40900030	40900030	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:40900030C>T	ENST00000309930.5	+	15	1392	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	C7orf10_ENST00000401647.2_Silent_p.I382I|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Silent_p.I430I	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	430							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACAGGGCCATCGGGGAGCTGC	0.562000													23	77					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067360	190067360	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:190067360C>T	ENST00000367462.3	-	8	2320	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	FAM5C_ENST00000534846.1_Missense_Mutation_p.D595N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		697						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGTGCTGAATCCTGGGATCCC	0.468000													27	59					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52941685	52941685	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:52941685G>A	ENST00000267119.5	-	6	1129	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	354	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCTGGATGAGCCGAGTGAGC	0.562000													32	91					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72921748	72921748	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72921748C>T	ENST00000331427.4	+	3	503	c.411C>T	c.(409-411)atC>atT	p.I137I	OTOP2_ENST00000580223.1_Silent_p.I137I	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	137						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCATCAAGATCCTGCACCCCC	0.537000													28	152					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98232049	98232049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:98232049C>A	ENST00000284049.3	-	11	1740	c.1591G>T	c.(1591-1593)Gga>Tga	p.G531*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	531	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAAAAAGGTCCATATAATTGA	0.378000													15	36					3.45872e-05	3.48933e-05	1	1	0
IGLV2-11	28816	broad.mit.edu	37	22	23135302	23135302	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:23135302C>T	ENST00000390314.2	+	0	206																											AACTATGTCTCCTGGTACCAA	0.552000													75	204					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54208096	54208096	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:54208096G>A	ENST00000259782.4	+	5	793	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	233					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGGACTCATGGCCCATTGGA	0.388000													17	33					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114072	168114072	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:168114072C>T	ENST00000519560.1	-	30	3645	c.3226G>A	c.(3226-3228)Gat>Aat	p.D1076N	SLIT3_ENST00000404867.3_Missense_Mutation_p.D1076N|SLIT3_ENST00000332966.8_Missense_Mutation_p.D1083N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1076	EGF-like 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACAGTCATCATTGTCTGTC	0.597000													14	33					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36123222	36123222	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:36123222C>T	ENST00000249044.2	+	3	1107	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	369					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTCGAGGATCCCGTGTGGTTA	0.602000													18	83					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468585	56468585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:56468585G>A	ENST00000288221.6	-	2	706	c.451C>T	c.(451-453)Cag>Tag	p.Q151*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	151						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGCTGGGCCTGAAGATCTAAC	0.498000													80	163					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124458859	124458859	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:124458859C>T	ENST00000329446.4	-	2	277	c.246G>A	c.(244-246)gaG>gaA	p.E82E		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	82										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTACTAGGATCTCTTTTTCCA	0.488000													17	29					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15330430	15330430	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:15330430A>G	ENST00000281513.5	-	49	6555	c.6530T>C	c.(6529-6531)gTt>gCt	p.V2177A	NBAS_ENST00000441750.1_Missense_Mutation_p.V2057A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2177										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAAAGTAAAACCAAGTGCTG	0.388000													18	50					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44672663	44672663	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:44672663C>T	ENST00000396058.1	+	2	667	c.500C>T	c.(499-501)cCg>cTg	p.P167L	ZNF197_ENST00000383744.4_Missense_Mutation_p.P167L|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.P167L|ZNF197_ENST00000383745.2_Missense_Mutation_p.P167L			O14709	ZN197_HUMAN	zinc finger protein 197	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAAATTTGCCCGCATCCTCCT	0.527000													18	54					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40692992	40692992	+	Silent	SNP	C	C	T	rs142989436	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:40692992C>T	ENST00000298910.7	+	25	3487	c.3429C>T	c.(3427-3429)tcC>tcT	p.S1143S	LRRK2_ENST00000343742.2_Silent_p.S1143S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1143					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACATTTCATCCCTATCAGAGA	0.408000													35	135					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873377	91873377	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:91873377C>T	ENST00000373094.1	+	7	4327	c.3482C>T	c.(3481-3483)tCc>tTc	p.S1161F	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1124F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1143F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1124F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1153F|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1151F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1161					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGATCATTCCAGCTCTTCG	0.547000													17	15					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030784	56030784	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:56030784G>A	ENST00000309675.2	+	1	141	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGTCTACCTGGTCACCTTGCT	0.572000													32	70					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118486107	118486107	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:118486107C>T	ENST00000349139.4	+	11	1233	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	396						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCACTGAATCCATCCTTGCC	0.468000													18	45					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113141782	113141782	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:113141782G>A	ENST00000401783.2	-	44	10589	c.10253C>T	c.(10252-10254)cCa>cTa	p.P3418L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3395L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1344L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3418	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTGAGCTGGTGGACCACATGA	0.398000													10	32					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14204497	14204497	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:14204497A>C	ENST00000308677.4	-	9	1069	c.873T>G	c.(871-873)gaT>gaG	p.D291E	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.D283E|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	291	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGTTCTTGATATCGTTGACCC	0.547000													41	105					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167552022	167552022	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:167552022G>A	ENST00000519204.1	+	10	1931	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N	TENM2_ENST00000520394.1_Missense_Mutation_p.D494N|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.D559N|TENM2_ENST00000518659.1_Missense_Mutation_p.D726N|TENM2_ENST00000545108.1_Missense_Mutation_p.D726N					teneurin transmembrane protein 2																		CTGCAGCTGCGATCCCAACTG	0.597000													7	6					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6589013	6589013	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:6589013C>T	ENST00000379953.2	+	2	398	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA|LY86_ENST00000230568.4_Missense_Mutation_p.P16S			O95711	LY86_HUMAN	lymphocyte antigen 86	16					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TCTGATTTTTCCCAGCTGCAG	0.552000													27	96					0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134258865	134258865	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:134258865G>A	ENST00000414097.2	-	13	1716	c.849C>T	c.(847-849)ctC>ctT	p.L283L	NDRG1_ENST00000522476.1_Silent_p.L217L|NDRG1_ENST00000537882.1_Silent_p.L202L|NDRG1_ENST00000354944.5_Silent_p.L213L|NDRG1_ENST00000323851.7_Silent_p.L283L|NDRG1_ENST00000518176.1_Silent_p.L30L|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000521414.1_5'UTR	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	283					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GTACCTTGAGGAGAGTGGTCT	0.438000			T	ERG	prostate								34	94					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1053431	1053431	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:1053431C>T	ENST00000263094.6	+	24	3555	c.3324C>T	c.(3322-3324)gcC>gcT	p.A1108A	ABCA7_ENST00000435683.2_Silent_p.A970A|ABCA7_ENST00000433129.1_Silent_p.A1108A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1108					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACGGGTGCCCATGACGGCA	0.677000													6	10					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101586288	101586288	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:101586288C>T	ENST00000284395.5	+	22	3457	c.3057C>T	c.(3055-3057)ttC>ttT	p.F1019F	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Silent_p.F1022F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1022					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGATGAGCTTCGTTCCCGTTG	0.542000													17	48					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120959299	120959299	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:120959299A>C	ENST00000273666.6	+	14	1616	c.1345A>C	c.(1345-1347)Agt>Cgt	p.S449R	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S449R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S449R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S449R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S449R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	449					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTGGCCAATCAGTGGAGGAGC	0.303000													9	23					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600974	29600974	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:29600974G>A	ENST00000431530.3	+	1	2227	c.2169G>A	c.(2167-2169)ttG>ttA	p.L723L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	713	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTTCCGGATTGATGGTGTCTG	0.468000													17	36					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3146924	3146924	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:3146924G>A	ENST00000355072.5	+	24	3257	c.3112G>A	c.(3112-3114)Gtt>Att	p.V1038I		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1038					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGCCTTCCCAGTTTGCATTTG	0.358000													41	90					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24454285	24454285	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:24454285C>T	ENST00000230036.1	-	14	1403	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	431						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGTCCAGGTCCAGGTCAACAG	0.577000													22	92					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5786495	5786495	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:5786495G>A	ENST00000309061.7	-	10	1641	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	DUS3L_ENST00000320699.8_Silent_p.T273T	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	515					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCATGATCCCGGTGACACCAG	0.582000													7	21					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078427	70078427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:70078427G>A	ENST00000446444.1	-	2	742	c.734C>T	c.(733-735)aCc>aTc	p.T245I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	245					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CTCAAATAAGGTAGTGGGTCT	0.353000													19	77					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81574933	81574933	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:81574933T>C	ENST00000554435.1	+	9	759	c.733T>C	c.(733-735)Tcc>Ccc	p.S245P	TSHR_ENST00000298171.2_Intron|TSHR_ENST00000342443.6_Intron|TSHR_ENST00000554263.1_3'UTR|RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000541158.2_Intron			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	251					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTTCTGCAAGTCCCTCTTTTC	0.433000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						30	71					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21804670	21804670	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:21804670C>T	ENST00000318220.6	+	12	1906	c.858C>T	c.(856-858)ccC>ccT	p.P286P	NBPF3_ENST00000342104.5_Silent_p.P367P|NBPF3_ENST00000454000.2_Silent_p.P272P|NBPF3_ENST00000318249.5_Silent_p.P342P			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	342	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGCCCCCCAGGAGTCCT	0.502000													34	103					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13936994	13936994	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:13936994C>T	ENST00000294489.6	+	3	883	c.542C>T	c.(541-543)gCc>gTc	p.A181V	PDPN_ENST00000376061.4_Missense_Mutation_p.A63V|PDPN_ENST00000475043.1_Missense_Mutation_p.A63V|PDPN_ENST00000513143.1_Missense_Mutation_p.A63V|PDPN_ENST00000376057.4_Missense_Mutation_p.A181V|PDPN_ENST00000487038.1_Missense_Mutation_p.A63V|PDPN_ENST00000509009.1_Missense_Mutation_p.A100V			Q86YL7	PDPN_HUMAN	podoplanin	105					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TCAAACGTGGCCACCAGTCAC	0.493000													9	57					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182848	140182848	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140182848C>T	ENST00000522353.2	+	1	2066	c.2066C>T	c.(2065-2067)cCg>cTg	p.P689L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P689L|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGGGCCCGGAAGCTGCA	0.637000													19	39					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308361	176308361	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176308361G>A	ENST00000292432.5	-	18	2660	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	857	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTCTTCCAGGCCCCGGTTC	0.667000													20	48					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18801810	18801810	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:18801810G>A	ENST00000406451.3	+	15	2215	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	HDAC9_ENST00000432645.2_Missense_Mutation_p.E689K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E692K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E648K	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	689	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.E692*(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCCTGGAGGAAATACAGCT	0.483000													4	22					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718564	117718564	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:117718564G>A	ENST00000317775.6	-	8	2175	c.1490C>T	c.(1489-1491)aCc>aTc	p.T497I	NOS1_ENST00000338101.4_Missense_Mutation_p.T497I|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	497					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCCCCAGGGTGGAGCCGTC	0.602000													17	44					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151288	73151288	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:73151288A>G	ENST00000222800.3	-	5	855	c.786T>C	c.(784-786)ttT>ttC	p.F262F	ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Silent_p.F205F|ABHD11_ENST00000437775.2_Silent_p.F255F	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	262							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CACCAAGGAGAAAGAGTGTTG	0.592000													26	84					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2268246	2268246	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2268246C>T	ENST00000378531.3	-	11	1253	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	360										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGCCCTGCTCCACTCGCTGAC	0.657000													10	19					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489641	76489641	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:76489641G>A	ENST00000311623.4	+	2	420	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	C4orf26_ENST00000435974.2_Silent_p.R143R	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	129						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTCATCTGAGGAAAGCTGAGA	0.398000													55	104					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735033	56735033	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:56735033G>A	ENST00000587340.1	-	5	1250	c.555C>T	c.(553-555)atC>atT	p.I185I	ZSCAN5A_ENST00000254165.3_Silent_p.I68I|ZSCAN5A_ENST00000592355.1_Silent_p.I185I|ZSCAN5A_ENST00000587492.1_Silent_p.I39I|ZSCAN5A_ENST00000391713.1_Silent_p.I185I			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	185					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCTGGGCAGGATCTGCAGCT	0.617000													13	30					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399899	87399899	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:87399899C>T	ENST00000338056.3	+	8	1094	c.683C>T	c.(682-684)tCt>tTt	p.S228F	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S211F|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S211F|RUNDC3B_ENST00000496000.1_3'UTR	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	228										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTTCCCAGTTCTGATAGTATC	0.383000													8	10					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30257198	30257198	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:30257198C>T	ENST00000359358.4	-	8	2122	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	562						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CAGCCAGGGCCACTTCGACCC	0.473000													25	64					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093412	30093412	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:30093412C>T	ENST00000567636.1	+	0	1787					NR_003558.1																						AGCTCCCTTGCTGAACCCTGA	0.527000													25	46					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76958673	76958673	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:76958673C>T	ENST00000257626.7	-	21	1788	c.1710G>A	c.(1708-1710)agG>agA	p.R570R	GSAP_ENST00000440473.1_Intron	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		CAAGAATATTCCTCACGTATG	0.373000													4	30					0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508890	140508890	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:140508890C>T	ENST00000371421.4	+	6	822	c.758C>T	c.(757-759)cCg>cTg	p.P253L	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	253										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		TCGGCCCTGCCGGGCTGCAGC	0.682000													26	73					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704128	60704128	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:60704128C>T	ENST00000005286.4	+	11	2977	c.2824C>T	c.(2824-2826)Cct>Tct	p.P942S	TMEM132A_ENST00000453848.2_Missense_Mutation_p.P941S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	941	Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCCTGGCCCTCCTGGGGGCAC	0.716000													3	18					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908310	103908310	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:103908310C>T	ENST00000302259.3	+	1	1003	c.760C>T	c.(760-762)Cct>Tct	p.P254S	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	254					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAATGGGCATCCTTTGAAGGC	0.498000													41	42					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722606	53722606	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:53722606G>T	ENST00000536324.2	-	3	903	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	SP7_ENST00000303846.3_Missense_Mutation_p.P207Q|SP7_ENST00000537210.2_Missense_Mutation_p.P189Q	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTAGGGGGCTGGATTAAGGGG	0.597000													20	44					1.50039e-11	1.52398e-11	1	1	0
IGDCC4	57722	broad.mit.edu	37	15	65676369	65676369	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:65676369G>A	ENST00000352385.2	-	20	3940	c.3731C>T	c.(3730-3732)tCc>tTc	p.S1244F	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1244						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGAGACCGGGGATCTGGGCAG	0.622000													13	29					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183707222	183707222	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:183707222C>T	ENST00000295113.4	-	3	1185	c.576G>A	c.(574-576)cgG>cgA	p.R192R		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	192	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGTAATTGTTCCGGAAATAGG	0.353000													14	55					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17113537	17113537	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:17113537C>T	ENST00000377833.4	-	19	2578	c.2513G>A	c.(2512-2514)gGa>gAa	p.G838E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	838	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTTCTTTCTCCAGGATACAC	0.453000													15	44					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38991298	38991298	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:38991298C>T	ENST00000355481.4	+	46	7507	c.7376C>T	c.(7375-7377)tCc>tTc	p.S2459F	RYR1_ENST00000360985.3_Missense_Mutation_p.S2459F|RYR1_ENST00000359596.3_Missense_Mutation_p.S2459F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2459	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATCCTCCGCTCCCTTGTGCCC	0.642000													5	30					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425751	88425751	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:88425751C>T	ENST00000393750.3	-	2	215	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E62K			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	62					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ACCGTGAATTCGTTTTGGATC	0.517000													66	171					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813348	24813348	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:24813348C>T	ENST00000221169.5	-	0	1276							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	p.E228K(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCCTCTTCGTGCACTTTC	0.612000													9	18					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420801	54420801	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:54420801G>A	ENST00000474759.1	+	4	429	c.381_splice	c.e4+1	p.Q127_splice	CACNA2D3_ENST00000288197.5_Splice_Site_p.Q127_splice|CACNA2D3_ENST00000490478.1_Splice_Site_p.Q33_splice|CACNA2D3_ENST00000415676.2_Splice_Site_p.Q127_splice	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	127						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGACTTACAGGTAACTGATT	0.383000													3	14					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19762738	19762738	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:19762738G>A	ENST00000269216.3	+	5	1726	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	GATA6_ENST00000581694.1_Missense_Mutation_p.M483I	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	483					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.M483I(1)		NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CACTTGCTATGAAAAAAGAGG	0.328000													5	15					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100171	66100171	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:66100171G>A	ENST00000311320.4	-	10	2054	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Missense_Mutation_p.T538I|RIN1_ENST00000530056.1_Missense_Mutation_p.T477I	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	643	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACGGCCAGGGTCTTGGAGGT	0.592000													32	85					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704166	131704166	+	Missense_Mutation	SNP	G	G	A	rs149091381		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131704166G>A	ENST00000409359.1	+	4	4151	c.2953G>A	c.(2953-2955)Gga>Aga	p.G985R	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G129R|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.G129R|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G129R|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G129R|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.G129R			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	129					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCTCCAACGGGACTGAACCA	0.527000													51	36					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022285	120022285	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:120022285G>A	ENST00000379551.2	+	3	1084	c.727G>A	c.(727-729)Gga>Aga	p.G243R	PRR16_ENST00000407149.2_Missense_Mutation_p.G266R|PRR16_ENST00000505123.1_Missense_Mutation_p.G196R|PRR16_ENST00000446965.1_Missense_Mutation_p.G196R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	266	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGAAAATGGGGGAATGGGAAT	0.547000													12	25					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235902	23235902	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:23235902C>T	ENST00000285848.5	+	1	172	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	p.P58S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAGTCCTCTTCCGGGCAAAAT	0.607000													32	98					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465787	24465787	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:24465787G>A	ENST00000382137.3	-	3	711	c.643C>T	c.(643-645)Cct>Tct	p.P215S	C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.P215S	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	215	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTGAAGAAGGAAACTTGCTC	0.453000													25	116					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147796069	147796069	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:147796069C>T	ENST00000513335.1	-	8	875	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TTC29_ENST00000325106.4_Missense_Mutation_p.E200K|TTC29_ENST00000398886.4_Missense_Mutation_p.E226K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	200							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCAGCAGCTTCCAGAAGCTGA	0.423000													7	21					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5768206	5768206	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:5768206C>T	ENST00000381624.3	+	18	1648	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.I187I	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	529						integral to membrane											CCATGGGCATCCTGGACCCCT	0.522000													14	28					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3856110	3856110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:3856110C>T	ENST00000324333.10	-	8	2100	c.1907G>A	c.(1906-1908)aGa>aAa	p.R636K	GLIS3_ENST00000381971.3_Missense_Mutation_p.R791K|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	636					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGCTGTGTTCTTTGCAGTAT	0.463000													15	48					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150267087	150267087	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150267087G>A	ENST00000461940.1	+	2	181	c.98G>A	c.(97-99)gGa>gAa	p.G33E	GIMAP4_ENST00000494750.1_Intron|GIMAP4_ENST00000255945.2_Intron			Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	20							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCTGCAGGGAGGTTAGCAG	0.577000													7	27					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141267566	141267566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:141267566G>A	ENST00000389484.3	-	52	9300	c.8329C>T	c.(8329-8331)Cga>Tga	p.R2777*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2777	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCAATGTCGGGGCACGCAG	0.517000										TSP Lung(27;0.18)			55	53					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746756	77746756	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:77746756T>C	ENST00000409088.3	-	3	653	c.239A>G	c.(238-240)cAg>cGg	p.Q80R	LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q81R|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q81R|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q80R|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q80R	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	80						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCCGGCAAACTGATTGGATTT	0.418000													29	57					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273951	28273951	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:28273951G>A	ENST00000305242.5	-	4	664	c.572C>T	c.(571-573)tCa>tTa	p.S191L	ARMC4_ENST00000239715.3_Missense_Mutation_p.S48L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	191							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GACTCACAATGAAATATGTTT	0.393000													5	12					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17283614	17283614	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:17283614C>T	ENST00000595618.1	+	13	2134	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	MYO9B_ENST00000594824.1_Missense_Mutation_p.A661V|MYO9B_ENST00000397274.2_Missense_Mutation_p.A661V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	661	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GACATCGTGGCCCTGCTGCGG	0.672000													22	66					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226931	43226931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:43226931C>T	ENST00000332499.2	+	1	2248	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	125					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGTCATGACTCCGAGGCCAGT	0.662000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	1					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702456	88702456	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:88702456G>A	ENST00000372027.4	-	6	2158	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	695						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCGCCAGCCCGGCCAGGGCGG	0.771000													4	10					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168175381	168175381	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:168175381C>T	ENST00000519560.1	-	20	2615	c.2196G>A	c.(2194-2196)atG>atA	p.M732I	SLIT3_ENST00000404867.3_Missense_Mutation_p.M732I|SLIT3_ENST00000332966.8_Missense_Mutation_p.M732I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	732	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGTCTCCATACAGGTGC	0.637000													27	58					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416724	82416724	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:82416724G>A	ENST00000370728.1	+	10	2160	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	LPHN2_ENST00000370725.1_Missense_Mutation_p.M505I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M505I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M505I|LPHN2_ENST00000370717.2_Missense_Mutation_p.M505I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M505I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M505I|LPHN2_ENST00000335786.5_Missense_Mutation_p.M505I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.M505I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M505I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M443I|LPHN2_ENST00000370713.1_Missense_Mutation_p.M505I|LPHN2_ENST00000394879.1_Missense_Mutation_p.M505I|LPHN2_ENST00000370715.1_Missense_Mutation_p.M505I			O95490	LPHN2_HUMAN	latrophilin 2	505					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATCTCTGCATGATTTCCACTG	0.443000													30	54					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099725	142099725	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142099725G>A	ENST00000390359.3	-	0	115																											GTACCTAGGGGACTGGGAGAC	0.463000													18	40					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759425	121759425	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:121759425C>T	ENST00000261367.7	+	6	2562	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	SNCAIP_ENST00000261368.8_Silent_p.I331I|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Silent_p.I378I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Silent_p.I331I|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Silent_p.I378I			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	331					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGGACAGATCTCTCTCCTGG	0.403000													10	47					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42180389	42180389	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:42180389T>A	ENST00000401548.3	+	25	3174	c.3134T>A	c.(3133-3135)cTc>cAc	p.L1045H	MEI1_ENST00000300398.4_Missense_Mutation_p.L53H|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.L378H	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1045							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTGAAGGCTCTCAGCTTTCCA	0.498000													11	33					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47648602	47648602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:47648602C>T	ENST00000371917.4	+	38	5080	c.5080C>T	c.(5080-5082)Ctt>Ttt	p.L1694F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1694					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGTGAAGCTCTTGCCTATTT	0.393000													45	176					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44109483	44109483	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:44109483C>T	ENST00000420999.1	-	5	898	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	272	DM10 2.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TAGAGCATCTCGGCCTGAGCT	0.438000													8	5					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85562059	85562059	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:85562059C>T	ENST00000295887.5	+	10	1371	c.948C>T	c.(946-948)tcC>tcT	p.S316S		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	316					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATGTAAACTCCTTCGTGACAG	0.403000													28	90					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206230863	206230863	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:206230863C>T	ENST00000367126.4	+	2	1461	c.996C>T	c.(994-996)tgC>tgT	p.C332C		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	332					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCAACAGCTGCTGCAACCCCT	0.582000													4	22					0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248921	55248921	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:55248921C>T	ENST00000308796.6	+	2	126	c.80C>T	c.(79-81)cCa>cTa	p.P27L	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.P22L	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	27	Thr-rich.					extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						ACAGCTGCTCCAGCTGACACG	0.428000													4	16					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14620490	14620490	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:14620490C>T	ENST00000403951.2	-	19	2028	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	DGKB_ENST00000444700.2_Missense_Mutation_p.G518R|DGKB_ENST00000407950.1_Missense_Mutation_p.G529R|DGKB_ENST00000406247.3_Missense_Mutation_p.G537R|DGKB_ENST00000258767.5_Missense_Mutation_p.G537R|DGKB_ENST00000402815.1_Missense_Mutation_p.G536R|DGKB_ENST00000399322.3_Missense_Mutation_p.G537R|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	537	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCTTTACCTCCTCCCCATCGC	0.428000													9	32					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962736	33962736	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:33962736G>A	ENST00000389232.4	+	38	5909	c.5839G>A	c.(5839-5841)Gag>Aag	p.E1947K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1947K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1947	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGCCGACGGAGGAGGAGGA	0.453000													21	58					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439635	145439635	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:145439635G>A	ENST00000511217.1	+	8	1814	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.G588S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	588							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCAGCAGGGGCAGTGAGGC	0.647000													14	36					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44662009	44662009	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44662009C>T	ENST00000426739.2	+	6	2098	c.1840C>T	c.(1840-1842)Cat>Tat	p.H614Y	ZNF234_ENST00000592437.1_Missense_Mutation_p.H614Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCTCCAACTTCATCAGAGTGT	0.463000													28	83					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26667480	26667480	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:26667480G>A	ENST00000226225.2	+	3	618	c.351G>A	c.(349-351)gtG>gtA	p.V117V	TNFAIP1_ENST00000544907.2_Silent_p.V13V|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	117					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGGGGCTGGTGAATATGTGCC	0.557000													26	25					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15439002	15439002	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:15439002G>A	ENST00000376030.2	+	14	2422	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	710					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AGGAAAGGAGGAGAACAGCAG	0.577000													5	8					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969529	103969529	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:103969529C>T	ENST00000535008.1	+	1	426	c.302C>T	c.(301-303)cCc>cTc	p.P101L	LHFPL3_ENST00000424859.1_Missense_Mutation_p.P87L|LHFPL3_ENST00000543266.1_Missense_Mutation_p.P101L|LHFPL3_ENST00000401970.2_Missense_Mutation_p.P87L			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	87						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TCCACGCTGCCCTCGGGCGCC	0.582000													19	56					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347891	140347891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140347891C>T	ENST00000289269.5	+	1	2072	c.1540C>T	c.(1540-1542)Caa>Taa	p.Q514*	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		514	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGAGATTCAAGGGCTGCC	0.493000													21	76					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106028359	106028359	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:106028359G>A	ENST00000255499.2	+	3	1047	c.797G>A	c.(796-798)gGa>gAa	p.G266E	RNF128_ENST00000324342.3_Missense_Mutation_p.G240E	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	266						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CTGAAACAAGGAGACAAGGTA	0.343000													28	22					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511109	104511109	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:104511109G>A	ENST00000304883.2	-	5	1268	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	376						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAACTTTGATGAAAGGACACC	0.443000													18	43					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87150164	87150164	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:87150164C>T	ENST00000265724.3	-	23	3131	c.2714G>A	c.(2713-2715)cGa>cAa	p.R905Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R841Q|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	905	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACAACGGTTCGGAAGTTTTC	0.413000													13	29					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559418	84559418	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:84559418G>A	ENST00000262753.4	-	14	1642	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	POF1B_ENST00000373145.3_Silent_p.F499F	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	499							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCTTAAATTGGAAGTCACTAC	0.358000													7	8					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126134476	126134476	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:126134476T>C	ENST00000373631.3	+	9	2458	c.2457T>C	c.(2455-2457)ggT>ggC	p.G819G	CRB2_ENST00000359999.3_Silent_p.G819G|CRB2_ENST00000373629.2_Silent_p.G487G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	819	EGF-like 11.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTTTCAATGGTGGGACTTGCC	0.602000													10	31					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848948	117848948	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:117848948G>A	ENST00000350763.4	-	3	1473	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TNC_ENST00000341037.4_Silent_p.G354G|TNC_ENST00000535648.1_Silent_p.G354G|TNC_ENST00000542877.1_Silent_p.G354G|TNC_ENST00000423613.2_Silent_p.G354G|TNC_ENST00000537320.1_Silent_p.G354G|TNC_ENST00000346706.3_Silent_p.G354G|TNC_ENST00000345230.3_Silent_p.G354G|TNC_ENST00000340094.3_Silent_p.G354G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	354	EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTCACACCGGCCCTGGGTGT	0.617000													15	65					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48735529	48735529	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:48735529G>A	ENST00000285238.8	+	5	653	c.573G>A	c.(571-573)agG>agA	p.R191R	ABCC3_ENST00000427699.1_Silent_p.R191R	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	191					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGCTTCAGGGAGAAACCTC	0.567000													78	72					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138189046	138189046	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:138189046C>T	ENST00000343526.4	+	2	591	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	TRIM24_ENST00000415680.2_Missense_Mutation_p.R126C|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	126					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.R126C(2)|p.R84C(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGAGTCATTCGTTGCCCAGT	0.358000													17	40					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428497	57428497	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:57428497C>T	ENST00000371100.4	+	1	729	c.177C>T	c.(175-177)atC>atT	p.I59I	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.I59I|GNAS_ENST00000371102.4_Silent_p.I59I|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACGAGCCCATCCCCGTCGAGA	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	11					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154805	100154805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:100154805G>A	ENST00000263174.4	+	7	1364	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PALMD_ENST00000605497.1_Missense_Mutation_p.R330Q	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	330					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCTCATCCCCGATCAGTGATT	0.468000													7	34					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28474134	28474134	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:28474134C>T	ENST00000361902.1	-	3	363	c.314G>A	c.(313-315)gGa>gAa	p.G105E	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000474923.1_Missense_Mutation_p.G105E	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	105					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTCTTGTTTTCCAAACTGGTT	0.463000													38	51					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271650	59271650	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:59271650C>T	ENST00000313253.1	+	1	602	c.602C>T	c.(601-603)tCc>tTc	p.S201F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTGATGATTTCCAACAATGGC	0.502000													35	94					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2421251	2421251	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2421251C>T	ENST00000449969.1	+	10	1540	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	PLCH2_ENST00000378486.3_Missense_Mutation_p.S487F|PLCH2_ENST00000378488.3_Missense_Mutation_p.S487F|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.S487F|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	487	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCGAGGTGTCTGATGAGGAC	0.612000													31	55					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37848882	37848882	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:37848882G>A	ENST00000381967.4	+	10	1348	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G	PGM2_ENST00000544359.1_Silent_p.G277G|PGM2_ENST00000537241.1_Silent_p.G256G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	416					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAGACCAGGGGAAAACTGTTT	0.383000													6	26					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18030465	18030465	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:18030465G>A	ENST00000205890.5	+	7	4356	c.4018G>A	c.(4018-4020)Gag>Aag	p.E1340K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1340	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAGAAACGGGAGGTCATGCA	0.577000													6	24					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075226	113075226	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:113075226C>T	ENST00000316851.7	+	2	316	c.316_splice	c.e2+1	p.Q106_splice	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Splice_Site_p.Q115_splice	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	116	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.Q106*(1)|p.Q115*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAAGATCTTTCGTAAGAGCCT	0.517000													20	11					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828104	94828104	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:94828104G>A	ENST00000285949.5	+	6	1219	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	407					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGGCTGGAGCGTGATGTATAG	0.652000													13	48					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477170	28477170	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:28477170C>T	ENST00000373857.3	-	2	997	c.363G>A	c.(361-363)cgG>cgA	p.R121R	PTAFR_ENST00000539896.1_Silent_p.R121R|PTAFR_ENST00000305392.3_Silent_p.R121R	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	121					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGATGGGCCGAGTTACTG	0.557000													20	55					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866677	106866677	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:106866677G>A	ENST00000390618.2	-	0	154																											GCCTCCCCCAGACTCCACCAG	0.562000													21	74					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84636176	84636176	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:84636176G>A	ENST00000284136.6	-	16	1893	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	617	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCTTGTTGGGATTTAGGTAT	0.388000													32	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610943	179610943	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179610943G>A	ENST00000360870.5	-	46	16406	c.16184C>T	c.(16183-16185)tCa>tTa	p.S5395L	TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8903	Ig-like 34.						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)			TACAGCATCTGAATTTTCTGG	0.338000													26	36					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	rs148650284		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9577542C>T	ENST00000301480.4	-	10	2294	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378000													36	83					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923856	2923856	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:2923856G>C	ENST00000254695.8	+	19	1808	c.1718G>C	c.(1717-1719)gGc>gCc	p.G573A	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G554A|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G558A|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G573A	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	573					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTGCACACGGGCTCAGAAGGC	0.632000													4	14					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903428	90903428	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:90903428G>A	ENST00000354377.3	+	4	551	c.365G>A	c.(364-366)gGa>gAa	p.G122E	ZNF774_ENST00000558115.1_3'UTR|ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGGCAACATGGAACCCTTCCA	0.473000													9	38					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211135	249211135	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:249211135C>T	ENST00000539153.1	+	4	598	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.R118C			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	118										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAGAGATATTCGTCCAGACTT	0.493000													11	39					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8637857	8637857	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:8637857C>T	ENST00000378641.3	+	8	1096	c.621C>T	c.(619-621)ttC>ttT	p.F207F	PLCB1_ENST00000338037.6_Silent_p.F207F|PLCB1_ENST00000378637.2_Silent_p.F207F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	207					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGAAGATTTCACTCCAGAAG	0.393000													33	42					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752402	62752402	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:62752402C>T	ENST00000331425.6	-	0	1033					NR_003952.1																						ACATTCTTCACAGGCATAGGG	0.428000													7	10					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154802038	154802038	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:154802038G>A	ENST00000460393.1	+	2	202	c.82G>A	c.(82-84)Gag>Aag	p.E28K	MME_ENST00000360490.2_Missense_Mutation_p.E28K|MME_ENST00000382989.3_Missense_Mutation_p.E28K|MME_ENST00000492661.1_Missense_Mutation_p.E28K|MME_ENST00000493237.1_Missense_Mutation_p.E28K|MME_ENST00000462745.1_Missense_Mutation_p.E28K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	28					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GACTCCACTGGAGATCAGCCT	0.468000													24	73					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64202503	64202503	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:64202503C>T	ENST00000537373.1	+	6	1131	c.183C>T	c.(181-183)gcC>gcT	p.A61A	TMEM5_ENST00000261234.6_Silent_p.A321A	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	321						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCAAGATGCCTTGCTTCAGA	0.413000													22	49					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071642	25071642	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:25071642G>A	ENST00000533227.1	+	10	853	c.566G>A	c.(565-567)gGa>gAa	p.G189E	LUZP2_ENST00000336930.6_Missense_Mutation_p.G275E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	275	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACAAAGGAAGGAAATCCAAGT	0.368000													13	38					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736640	141736640	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:141736640C>T	ENST00000475668.2	+	18	2148	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	MGAM_ENST00000549489.2_Silent_p.S698S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	698	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCCTGCCTCCTTTGGAGCTG	0.502000													56	171					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6424912	6424912	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6424912G>A	ENST00000389906.2	-	3	961	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	APBB1_ENST00000533407.1_Missense_Mutation_p.P29S|APBB1_ENST00000530885.1_Missense_Mutation_p.P68S|APBB1_ENST00000311051.3_Missense_Mutation_p.P288S|APBB1_ENST00000299402.6_Missense_Mutation_p.P288S	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	288					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCTGTGAGGGGGAGGCCCGG	0.652000													23	49					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844304	131844304	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:131844304C>T	ENST00000359827.3	-	25	5550	c.4588G>A	c.(4588-4590)Gag>Aag	p.E1530K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1530K			Q9HCM2	PLXA4_HUMAN	plexin A4	1530						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGAATCTTCTCCTTGACCTGA	0.547000													64	190					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130828463	130828463	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:130828463G>A	ENST00000509018.1	-	14	1748	c.1543C>T	c.(1543-1545)Ctc>Ttc	p.L515F	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L515F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L515F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L515F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.L515F|FNIP1_ENST00000514667.1_Missense_Mutation_p.L565F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.L515F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.L230F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	515	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATAACCGGAGATGACCATTC	0.378000													8	20					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69098462	69098462	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:69098462G>A	ENST00000295379.1	-	1	187	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	10					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GCAGAAAAGAGCGCACAGTGT	0.522000													7	42					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41154047	41154047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:41154047G>A	ENST00000263413.3	-	15	2419	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*	C6_ENST00000337836.5_Nonsense_Mutation_p.Q719*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	719	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TACAATCTCTGAAATGGTGTA	0.458000													16	31					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099203	133099203	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:133099203C>T	ENST00000515826.1	+	3	771	c.648C>T	c.(646-648)atC>atT	p.I216I	TMEM108_ENST00000393130.3_Silent_p.I216I|TMEM108_ENST00000321871.6_Silent_p.I216I|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	216						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGGGAAAATCTTTCAGATCT	0.602000													17	39					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72700889	72700889	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72700889G>A	ENST00000469092.1	-	3	395	c.119C>T	c.(118-120)aCc>aTc	p.T40I	CD300LF_ENST00000583937.1_Missense_Mutation_p.T37I|CD300LF_ENST00000581500.1_Missense_Mutation_p.T40I|CD300LF_ENST00000301573.9_Missense_Mutation_p.T37I|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000326165.6_Missense_Mutation_p.T37I|CD300LF_ENST00000343125.4_Missense_Mutation_p.T40I|CD300LF_ENST00000464910.1_Missense_Mutation_p.T40I|CD300LF_ENST00000361254.4_Missense_Mutation_p.T40I			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	37	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACACTGCACGGTCAAGGAGCC	0.512000													88	74					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111936354	111936354	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:111936354G>A	ENST00000305815.5	-	15	1977	c.1725C>T	c.(1723-1725)acC>acT	p.T575T	SLC9C1_ENST00000487372.1_Silent_p.T527T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	575					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTCTAGCAAAGGTAACTGTTT	0.303000													13	46					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31995809	31995809	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:31995809G>A	ENST00000438447.1	+	4	1494	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	PDZD2_ENST00000282493.3_Missense_Mutation_p.G369E			O15018	PDZD2_HUMAN	PDZ domain containing 2	369	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGAAGGAAGGAGGTGCCGCT	0.577000													11	42					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732584	92732584	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:92732584C>T	ENST00000379958.2	-	3	3096	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	943						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCCAATTCCTAAGAATTTT	0.383000													13	28					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219483456	219483456	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:219483456C>T	ENST00000450993.2	+	4	675	c.336C>T	c.(334-336)gcC>gcT	p.A112A	PLCD4_ENST00000432688.1_Silent_p.A112A|PLCD4_ENST00000417849.1_Silent_p.A112A	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	112	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTGAGGAGGCCCAGATATGGA	0.612000													13	4					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106209924	106209924	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:106209924G>A	ENST00000369704.3	+	17	2606	c.2472G>A	c.(2470-2472)aaG>aaA	p.K824K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	824										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATTTAAAGAAGAAATACCTCG	0.313000													33	63					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919933	48919933	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:48919933C>T	ENST00000310194.1	+	1	519	c.519C>T	c.(517-519)atC>atT	p.I173I	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AAGCCAAAATCATTCACCACT	0.507000													37	70					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45436370	45436370	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:45436370C>T	ENST00000321429.4	+	18	2480	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	DUOX1_ENST00000389037.3_Silent_p.F691F|DUOX1_ENST00000561166.1_Silent_p.F337F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	691					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.F691F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGGTCAACTTCGTCCTGTCCA	0.612000													17	40					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136899928	136899928	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:136899928C>T	ENST00000303407.7	-	11	2145	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	654						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTCGACTTGGCTGCCTGTTTC	0.602000			T	C15orf55	lethal midline carcinoma of young people								40	96					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203560637	203560637	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:203560637C>T	ENST00000392238.2	+	2	635	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM117B_ENST00000303116.6_5'UTR			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	212										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCAAGCCCCTCCAGTATTATC	0.448000													170	68					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118957035	118957035	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:118957035C>T	ENST00000334549.1	+	1	36	c.36C>T	c.(34-36)tgC>tgT	p.C12C		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	12						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCAGGAGATGCTGCCCAGAGG	0.632000													17	44					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530842	84530842	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:84530842C>T	ENST00000527857.1	+	0	864					NR_026851.1																						CACCCTATCCCAAGATATGAA	0.483000													4	31					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014938	53014938	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:53014938C>T	ENST00000421239.2	+	6	1548	c.1304C>T	c.(1303-1305)gCt>gTt	p.A435V	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGTGGTAAGGCTTTTATTCAT	0.378000													18	50					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151860809	151860809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:151860809G>A	ENST00000355193.2	-	43	10071	c.9853C>T	c.(9853-9855)Cag>Tag	p.Q3285*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3285*					lysine (K)-specific methyltransferase 2C																		GGCTGGGGCTGGACACTGGGC	0.532000													9	32					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629874	47629874	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:47629874C>T	ENST00000546455.1	+	4	1759	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	PCED1B_ENST00000432328.1_Missense_Mutation_p.S343F					PC-esterase domain containing 1B									p.S343F(1)									GCCTGTTTTTCCTCAGACCAT	0.542000													48	112					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572902	140572902	+	Silent	SNP	C	C	T	rs150690310		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140572902C>T	ENST00000239446.4	+	1	961	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F259F(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATTGGGTTCCTTATTGTTA	0.463000													19	48					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199005	81199005	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:81199005G>A	ENST00000394685.3	+	13	1832	c.1411_splice	c.e13-1	p.G471_splice	RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000356249.5_Splice_Site_p.G471_splice|KIAA1199_ENST00000220244.3_Splice_Site_p.G471_splice|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	471										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCCCTAGGGAAACCAATGT	0.587000													22	63					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278618	44278618	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44278618A>T	ENST00000262888.3	-	3	804	c.409T>A	c.(409-411)Tcc>Acc	p.S137T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	137					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GGCTGCGGGGAGGTCAGCGGC	0.736000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107391735	107391735	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:107391735G>A	ENST00000429433.2	-	5	1309	c.660C>T	c.(658-660)ctC>ctT	p.L220L	BEND3_ENST00000369042.1_Silent_p.L220L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	220										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CCTCAAGGGAGAGCAGGTCCA	0.567000													9	24					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50157982	50157982	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:50157982C>T	ENST00000360565.3	+	9	3597	c.3473C>T	c.(3472-3474)cCc>cTc	p.P1158L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1158					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTGGGTCTGCCCCCTGGCCCC	0.672000													28	54					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372419	126372419	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:126372419G>A	ENST00000394329.3	+	9	10261	c.10248G>A	c.(10246-10248)ggG>ggA	p.G3416G	FAT4_ENST00000335110.5_Silent_p.G1714G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3416	Cadherin 33.				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						TCAGTGAAGGGGTCCCAATAG	0.458000													35	92					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10240011	10240011	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:10240011C>G	ENST00000377157.3	+	27	4244	c.3183C>G	c.(3181-3183)caC>caG	p.H1061Q	UBE4B_ENST00000253251.8_Missense_Mutation_p.H1173Q|UBE4B_ENST00000343090.6_Missense_Mutation_p.H1302Q	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1302					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACAGCGATCACTAAACCGTTC	0.547000													22	56					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328704	152328704	+	Nonsense_Mutation	SNP	G	G	A	rs143786396		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:152328704G>A	ENST00000388718.5	-	3	1630	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	520	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGCTGTCCAAAACCA	0.512000													66	150					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224085	248224085	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248224085C>T	ENST00000359959.3	+	1	102	c.102C>T	c.(100-102)ttC>ttT	p.F34F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTCATTTTCCTAATGGCTC	0.388000													68	196					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38926062	38926062	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:38926062C>T	ENST00000335552.4	-	5	961	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	305	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CGTTTTAATTCGGTCAGCTCA	0.448000													34	55					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953787	89953787	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:89953787G>A	ENST00000405460.2	+	21	4540	c.4444G>A	c.(4444-4446)Gat>Aat	p.D1482N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1482					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGATGCAGGATGTGAGGTC	0.418000													37	60					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72970443	72970443	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:72970443G>A	ENST00000264839.7	+	19	3089	c.3089G>A	c.(3088-3090)cGa>cAa	p.R1030Q	RIMS1_ENST00000518273.1_Missense_Mutation_p.R1030Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1029Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1029Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R489Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R423Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1030Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R9Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R504Q|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.R503Q|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1030Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1029Q			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1030					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAACGAGGACGAAGTGCAGAA	0.443000													5	13					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675421	100675421	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100675421G>A	ENST00000306151.4	+	3	788	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	242	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)					AACTCCTGTTGAAATCAGCAC	0.493000													47	112					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983449	97983449	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:97983449G>A	ENST00000383696.2	+	1	362	c.321G>A	c.(319-321)atG>atA	p.M107I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGTAAGATGATATCTCTCT	0.398000													32	65					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43607014	43607014	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:43607014G>A	ENST00000360835.3	-	18	2423	c.2297C>T	c.(2296-2298)cCc>cTc	p.P766L		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	766					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCAAACTCGGGCTGGTAGGT	0.637000													17	28					0	0	1	0	0
MIR520A	574467	broad.mit.edu	37	19	54194197	54194197	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54194197C>T	ENST00000384862.1	+	0	63					NR_030189.1																						AAAGTGCTTCCCTTTGGACTG	0.453000													21	72					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55839143	55839143	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:55839143C>T	ENST00000373965.2	-	18	2454	c.2060G>A	c.(2059-2061)aGc>aAc	p.S687N	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.S687N|PCDH15_ENST00000395430.1_Missense_Mutation_p.S680N|PCDH15_ENST00000414778.1_Missense_Mutation_p.S685N|PCDH15_ENST00000373957.3_Missense_Mutation_p.S658N|PCDH15_ENST00000320301.6_Missense_Mutation_p.S680N|PCDH15_ENST00000395438.1_Missense_Mutation_p.S680N|PCDH15_ENST00000395446.1_Missense_Mutation_p.S680N|PCDH15_ENST00000373955.1_Missense_Mutation_p.S680N|PCDH15_ENST00000361849.3_Missense_Mutation_p.S680N|PCDH15_ENST00000395432.2_Missense_Mutation_p.S643N|PCDH15_ENST00000437009.1_Missense_Mutation_p.S609N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S291N|PCDH15_ENST00000395433.1_Missense_Mutation_p.S658N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	680	Cadherin 6.				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)				GCGATCAGTGCTTTCCCTGTC	0.428000										HNSCC(58;0.16)			60	179					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134017385	134017385	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:134017385C>T	ENST00000338492.4	+	13	1745	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	DPYSL4_ENST00000368627.1_Silent_p.S367S|DPYSL4_ENST00000368629.1_Silent_p.S367S	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	527					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCAAGATCTCCGTCCCTCCTG	0.677000													29	63					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177437	153177437	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:153177437C>T	ENST00000368747.1	+	2	364	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	85	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTTCATCCTGCCCACAT	0.642000													7	23					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63709527	63709527	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:63709527G>A	ENST00000421025.1	+	2	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572000													11	31					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167200	140167200	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140167200C>T	ENST00000504120.2	+	1	1325	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S442F|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S442F	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGGTGTCCGTGGAGGTG	0.662000													38	78					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039421	11039421	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:11039421C>T	ENST00000470054.1	-	0	782									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)		TTTTCCAATTCGGTATTCACT	0.279000													5	93					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170689	159170689	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159170689G>A	ENST00000368125.4	+	9	1331	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	CADM3_ENST00000368124.4_Missense_Mutation_p.D426N|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	392					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAGGGGACGACAAGAAGGA	0.612000													17	59					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716301	13716301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:13716301G>A	ENST00000279593.3	-	13	4080	c.3871C>T	c.(3871-3873)Cag>Tag	p.Q1291*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1291					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCTTCTTCTGGGCCTTGGAA	0.622000													33	82					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21781647	21781647	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:21781647C>T	ENST00000328843.6	+	50	8069	c.8038C>T	c.(8038-8040)Cca>Tca	p.P2680S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2673S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2680	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCATTTGCTCCATCAATTCT	0.403000									Kartagener syndrome				38	90					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17265526	17265526	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:17265526C>T	ENST00000375541.5	+	12	1566	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	499					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)		CGCGGCGCTCCTCGCCCGGCC	0.761000													5	10					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159856450	159856450	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159856450G>A	ENST00000426543.2	-	6	818	c.363C>T	c.(361-363)atC>atT	p.I121I	CCDC19_ENST00000368099.4_Silent_p.I206I|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	206						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGGCATCCCGGATGGCATGGC	0.473000													51	110					0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3343620	3343620	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3343620G>A	ENST00000573128.1	-	9	1396	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S	SPATA22_ENST00000397168.3_Missense_Mutation_p.P305S|SPATA22_ENST00000575375.1_Missense_Mutation_p.P305S|SPATA22_ENST00000541913.1_Missense_Mutation_p.P289S|SPATA22_ENST00000355380.4_Missense_Mutation_p.P262S|SPATA22_ENST00000572969.1_Missense_Mutation_p.P305S|SPATA22_ENST00000268981.5_3'UTR			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	305										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATCAGTCTCGGAAGTTCACGA	0.333000													14	36					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994916	51994916	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:51994916G>A	ENST00000291707.3	-	8	1822	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	SIGLEC12_ENST00000598614.1_Silent_p.S471S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	589					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTTGATCTCGGAGTACTCAT	0.542000													27	61					0	0	1	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356428	22356428	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22356428C>T	ENST00000390437.2	+	0	191																											GAGCAGAATTCTGGACCCCTC	0.512000													13	36					0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52440151	52440151	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:52440151G>A	ENST00000242819.4	+	2	933	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	213						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GCAGATGCTCGAAGATGGGCC	0.607000													18	43					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:55128600C>T	ENST00000370862.3	+	4	1078	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373000													10	15					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115818872	115818872	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:115818872C>T	ENST00000374227.3	-	1	124	c.97G>A	c.(97-99)Gag>Aag	p.E33K	ZFP37_ENST00000555206.1_Missense_Mutation_p.E33K|ZFP37_ENST00000553380.1_Missense_Mutation_p.E33K			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	33	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACAGCCATCTCCAGTGGTCGC	0.622000													41	135					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124979306	124979306	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:124979306C>T	ENST00000431078.1	+	2	471	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	36	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACTAGCATCCCTGCTCTCT	0.458000													9	5					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595421	93595421	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:93595421C>T	ENST00000329082.7	-	3	718	c.447G>A	c.(445-447)aaG>aaA	p.K149K	RGMA_ENST00000557301.1_Silent_p.K157K|RGMA_ENST00000556087.1_Silent_p.K133K|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000425933.2_Silent_p.K133K|RGMA_ENST00000556658.1_Silent_p.K40K|RGMA_ENST00000542321.2_Silent_p.K133K|RGMA_ENST00000543599.1_Silent_p.K133K|RGMA_ENST00000538818.1_Silent_p.K40K	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	149					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTGAAAGCTCTTCTCGTAAT	0.652000													16	24					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240320	3240320	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:3240320C>T	ENST00000217939.6	-	5	3560	c.3406G>A	c.(3406-3408)Gtt>Att	p.V1136I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1136						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GACGGAGCAACTTTTTGCCTT	0.512000													28	17					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128587827	128587827	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:128587827C>T	ENST00000402030.2	+	7	856	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	IRF5_ENST00000473745.1_Missense_Mutation_p.R262W|IRF5_ENST00000357234.5_Missense_Mutation_p.R278W|IRF5_ENST00000249375.4_Missense_Mutation_p.R262W|IRF5_ENST00000477535.1_Missense_Mutation_p.R176W	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	262					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCGGCCACCCCGGGCCCTCAC	0.657000													7	10					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46521614	46521614	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:46521614G>A	ENST00000262741.5	-	7	1483	c.794C>T	c.(793-795)tCa>tTa	p.S265L	PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000540385.1_Missense_Mutation_p.S311L|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.S265L|PIK3R3_ENST00000420542.1_Missense_Mutation_p.S265L|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	265					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					ACCCAGACGTGATTTCAATTT	0.348000													6	26					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122760816	122760816	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:122760816G>A	ENST00000264499.4	-	13	1524	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	BBS7_ENST00000506636.1_Silent_p.C447C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	447					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TATCTGCCTGGCACCGATAAG	0.368000									Bardet-Biedl syndrome				3	18					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133218876	133218876	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:133218876G>A	ENST00000320574.5	-	38	5103	c.5060C>T	c.(5059-5061)tCc>tTc	p.S1687F	POLE_ENST00000535270.1_Missense_Mutation_p.S1660F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1687					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCTGTAGGGGACAGCCAGAG	0.572000								DNA polymerases (catalytic subunits)					19	40					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556163	29556163	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:29556163C>T	ENST00000358273.4	+	21	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_ENST00000356175.3_Missense_Mutation_p.L844F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGGCTTCCTTTGTGCCCT	0.517000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			25	13					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891646	18891646	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:18891646G>A	ENST00000317658.3	+	1	602	c.444G>A	c.(442-444)aaG>aaA	p.K148K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	148					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TCAAAAGTAAGGAGTACTTGA	0.383000													16	40					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190203543	190203543	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:190203543G>A	ENST00000367462.3	-	5	914	c.683C>T	c.(682-684)tCt>tTt	p.S228F	FAM5C_ENST00000534846.1_Missense_Mutation_p.S126F|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		228						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACCAGAACAGAACTGACAGA	0.383000													16	34					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105179175	105179175	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:105179175C>T	ENST00000428173.2	+	21	3819	c.3516C>T	c.(3514-3516)ttC>ttT	p.F1172F	NRK_ENST00000243300.9_Silent_p.F1171F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1171							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						ACGCTGGATTCGTAGAAGTAC	0.373000										HNSCC(51;0.14)			50	21					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76853860	76853860	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:76853860G>A	ENST00000409709.3	+	3	396	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	MYO7A_ENST00000409619.2_Missense_Mutation_p.E31K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E42K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E42K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	42	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTGGATGATGAAGACAATGT	0.597000													5	7					0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954564	10954564	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:10954564G>A	ENST00000240687.2	-	1	662	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	202					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GGATCAAGAGGAAAAAGGACA	0.502000													3	21					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52886893	52886893	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:52886893C>T	ENST00000330722.6	-	1	148	c.80G>A	c.(79-81)gGg>gAg	p.G27E		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	27	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGCTGACCCCAGGGAGCCT	0.657000													20	65					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	160569	160569	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:160569G>A	ENST00000399953.3	-	6	985	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.L16L	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	195							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CACTTGGGCAGGATGTGATGG	0.522000													7	17					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83159046	83159046	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:83159046G>A	ENST00000566620.1	+	4	713	c.423G>A	c.(421-423)gtG>gtA	p.V141V	CDH13_ENST00000446376.2_Silent_p.V141V|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.V188V|CDH13_ENST00000431540.3_Silent_p.V141V|CDH13_ENST00000428848.3_Intron|CDH13_ENST00000565636.1_Silent_p.V141V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	141	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGTCCATTGTGGTATCTCCCA	0.358000													8	22					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169812116	169812116	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:169812116G>A	ENST00000335742.7	+	12	2891	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	PALLD_ENST00000505667.1_Missense_Mutation_p.D670N|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.D670N|PALLD_ENST00000512127.1_Missense_Mutation_p.D288N|PALLD_ENST00000507735.1_Missense_Mutation_p.D183N			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	894	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AATAGCCTCCGATGAGGAAAT	0.448000									Pancreatic Cancer, Familial Clustering of				16	68					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526126	189526126	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:189526126C>T	ENST00000264731.3	+	4	479	c.390C>T	c.(388-390)tcC>tcT	p.S130S	TP63_ENST00000440651.2_Silent_p.S130S|TP63_ENST00000437221.1_Silent_p.S36S|TP63_ENST00000392463.2_Silent_p.S36S|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Silent_p.S36S|TP63_ENST00000418709.2_Silent_p.S130S|TP63_ENST00000392460.3_Silent_p.S130S|TP63_ENST00000354600.5_Silent_p.S36S|TP63_ENST00000456148.1_Silent_p.S36S|TP63_ENST00000320472.5_Silent_p.S130S|TP63_ENST00000382063.4_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	130					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTCCTCGTCCACCAGTCCCT	0.602000										HNSCC(45;0.13)			20	45					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153884242	153884242	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:153884242C>A	ENST00000511601.1	+	8	1177	c.989C>A	c.(988-990)gCa>gAa	p.A330E	FHDC1_ENST00000260008.3_Missense_Mutation_p.A330E			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	330	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACACAAAAGCAAACAAACCT	0.408000													25	75					2.12542e-12	2.15997e-12	1	1	0
NEFH	4744	broad.mit.edu	37	22	29881793	29881793	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:29881793C>A	ENST00000310624.6	+	3	1198	c.1165C>A	c.(1165-1167)Ctc>Atc	p.L389I		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	389	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCAGGACCTGCTCAATGTCAA	0.557000													17	40					1.96292e-10	1.99274e-10	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134076535	134076535	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:134076535G>A	ENST00000534548.2	-	8	1039	c.975C>T	c.(973-975)tcC>tcT	p.S325S		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	325					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGATGACTTGGGAGGTAACAG	0.463000													30	66					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503688	140503688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140503688C>T	ENST00000194152.1	+	1	2108	c.2108C>T	c.(2107-2109)tCg>tTg	p.S703L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTCTCGGTGCTCCTG	0.706000													42	132					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422076	31422076	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:31422076C>T	ENST00000389202.2	+	12	1282	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	411					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCGAGCTAGCCCTGTGGAAGG	0.662000													11	51					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022575	34022575	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:34022575C>T	ENST00000374372.1	-	4	1141	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	GDF5OS_ENST00000374375.1_Missense_Mutation_p.R207W|GDF5_ENST00000374369.3_Missense_Mutation_p.R213Q			P43026	GDF5_HUMAN	growth differentiation factor 5	213					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CACGGGACCTCGGTCATCTAG	0.612000													36	128					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24450048	24450048	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:24450048G>A	ENST00000230036.1	-	15	1525	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	472						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCCACCGAGGGAGCTCCCAC	0.612000													24	60					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817623	7817623	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:7817623C>T	ENST00000329434.2	-	1	897	c.867G>A	c.(865-867)agG>agA	p.R289R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCCTTGTTCCTGAGGCTGT	0.403000													26	70					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45917016	45917016	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:45917016C>T	ENST00000185206.6	-	3	905	c.753G>A	c.(751-753)ctG>ctA	p.L251L	CLIC5_ENST00000544153.1_Silent_p.L92L|CLIC5_ENST00000339561.6_Silent_p.L92L	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	251					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGGTCTCCTCCAGGAACTCCT	0.532000													22	158					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757600	53757600	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:53757600G>A	ENST00000288139.3	+	14	1984	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	CACNA1D_ENST00000350061.5_Silent_p.T602T|CACNA1D_ENST00000422281.2_Silent_p.T602T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	602					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCACTGAGACGATCTTGGTGG	0.473000													57	191					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63223784	63223784	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:63223784T>A	ENST00000263991.5	+	21	3681	c.3199T>A	c.(3199-3201)Ttc>Atc	p.F1067I	EHBP1_ENST00000405015.3_Missense_Mutation_p.F996I|EHBP1_ENST00000405289.1_Missense_Mutation_p.F1032I|EHBP1_ENST00000431489.1_Missense_Mutation_p.F996I|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000354487.3_Missense_Mutation_p.F1032I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1067						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACAGAAAGGGTTCAAAGACAC	0.418000													13	44					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47320670	47320670	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:47320670G>A	ENST00000285093.10	-	5	1032	c.557C>T	c.(556-558)tCa>tTa	p.S186L	ACAA2_ENST00000589432.1_Missense_Mutation_p.S131L|ACAA2_ENST00000587994.1_Missense_Mutation_p.S183L	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	186					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						TCTCTGCTGTGACTGCAGGGC	0.373000													9	33					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36123223	36123223	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:36123223C>T	ENST00000249044.2	+	3	1108	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	370					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCGAGGATCCCGTGTGGTTAA	0.607000													19	83					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153805	45153805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:45153805G>A	ENST00000296129.1	-	3	559	c.425C>T	c.(424-426)tCc>tTc	p.S142F	CDCP1_ENST00000425231.2_Missense_Mutation_p.S142F	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	142						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCGAGGGATGGAAAACTGCAG	0.557000													47	146					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884805	39884805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:39884805G>A	ENST00000260356.5	+	17	2734	c.2569G>A	c.(2569-2571)Gac>Aac	p.D857N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	857					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGATACCTGTGACAACAATCA	0.433000													6	21					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19679948	19679948	+	Splice_Site	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:19679948A>T	ENST00000397977.3	+	5	839		c.e5-1		INTS10_ENST00000521758.1_Splice_Site	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10						snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GTTTTGAAATAGGTTGGCCTT	0.318000													6	23					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759954	54759954	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54759954G>A	ENST00000450632.1	-	4	657	c.580C>T	c.(580-582)Cct>Tct	p.P194S	LILRB5_ENST00000449561.2_Missense_Mutation_p.P203S|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Missense_Mutation_p.P203S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	203	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACCTGAGGGTTTTTCCTG	0.532000													19	66					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360875	70360875	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:70360875G>A	ENST00000305107.6	-	1	751	c.705C>T	c.(703-705)ttC>ttT	p.F235F	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Silent_p.F235F|UGT2B4_ENST00000381096.3_Silent_p.F99F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	235					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTTCACTGTAGAACTGATCCC	0.328000													8	40					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76126736	76126736	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:76126736C>T	ENST00000324432.5	+	7	1602	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	DTX2_ENST00000430490.2_Silent_p.S364S|DTX2_ENST00000446600.1_Silent_p.S273S|DTX2_ENST00000446820.2_Intron|DTX2_ENST00000413936.2_Silent_p.S364S|DTX2_ENST00000307569.8_Intron	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	364					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTCCCGCCTCCCGTCTGGCTT	0.557000													11	64					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223227	140223227	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140223227C>T	ENST00000531613.1	+	1	2321	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P774L|PCDHA6_ENST00000527624.1_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)			GCCTTCAGCCCCTGCCTTCCT	0.522000													15	34					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582106	189582106	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:189582106G>A	ENST00000264731.3	+	5	754	c.665G>A	c.(664-666)gGa>gAa	p.G222E	TP63_ENST00000440651.2_Missense_Mutation_p.G222E|TP63_ENST00000437221.1_Missense_Mutation_p.G128E|TP63_ENST00000392463.2_Missense_Mutation_p.G128E|TP63_ENST00000449992.1_Missense_Mutation_p.G43E|TP63_ENST00000392461.3_Missense_Mutation_p.G128E|TP63_ENST00000418709.2_Missense_Mutation_p.G222E|TP63_ENST00000392460.3_Missense_Mutation_p.G222E|TP63_ENST00000354600.5_Missense_Mutation_p.G128E|TP63_ENST00000456148.1_Missense_Mutation_p.G128E|TP63_ENST00000320472.5_Missense_Mutation_p.G222E|TP63_ENST00000382063.4_Missense_Mutation_p.G137E	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	222					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTCCTCAGGGAGCTGTTATC	0.527000										HNSCC(45;0.13)			26	99					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239835	96239835	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:96239835C>T	ENST00000347108.3	-	18	2608	c.2176G>A	c.(2176-2178)Gga>Aga	p.G726R	DZIP1_ENST00000376829.2_Missense_Mutation_p.G726R|DZIP1_ENST00000361156.3_Missense_Mutation_p.G707R|DZIP1_ENST00000361396.2_Missense_Mutation_p.G707R			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	726					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATTTCGCTTCCCTCGGTCCCG	0.557000													35	52					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148514333	148514333	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:148514333C>T	ENST00000320356.2	-	11	1512	c.1391G>A	c.(1390-1392)gGg>gAg	p.G464E	EZH2_ENST00000476773.1_Missense_Mutation_p.G450E|EZH2_ENST00000460911.1_Missense_Mutation_p.G459E|EZH2_ENST00000483967.1_Missense_Mutation_p.G450E|EZH2_ENST00000478654.1_Missense_Mutation_p.G450E|EZH2_ENST00000350995.2_Missense_Mutation_p.G420E|EZH2_ENST00000541220.1_Missense_Mutation_p.G450E	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	459					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGTTTTGGTCCCAATTAACCT	0.388000			Mis		DLBCL								4	19					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3667190	3667190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3667190G>A	ENST00000263087.4	-	3	318	c.220C>T	c.(220-222)Cag>Tag	p.Q74*		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	74					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATTTCATCCTGGACAAGGGAA	0.567000													14	56					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345629	92345629	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:92345629C>T	ENST00000377067.3	+	3	886	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	172						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P172S(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGTCTTTTTCCTCTGGTCTA	0.458000													33	71					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37011773	37011773	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:37011773C>G	ENST00000418263.1	+	3	652	c.302C>G	c.(301-303)aCa>aGa	p.T101R	CCNA1_ENST00000255465.4_Missense_Mutation_p.T102R|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_Missense_Mutation_p.T58R|CCNA1_ENST00000449823.1_Missense_Mutation_p.T58R	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	102					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TAGGGGATCACAAGAATCAGG	0.483000													27	93					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562369	136562369	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:136562369C>T	ENST00000264162.2	-	10	4442	c.4432G>A	c.(4432-4434)Gat>Aat	p.D1478N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1478	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAGTGTATCGATGAGCCTC	0.587000													18	26					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511350	169511350	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:169511350C>T	ENST00000367796.3	-	13	3194	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E	F5_ENST00000367797.3_Missense_Mutation_p.G993E			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	993	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACTCTGCTTTCCAGGCTTGTT	0.473000													47	110					0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355105	42355105	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:42355105G>A	ENST00000373003.1	-	1	533	c.230C>T	c.(229-231)cCt>cTt	p.P77L	GTSF1L_ENST00000373005.2_Missense_Mutation_p.P77L	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	77							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GACTTTCAGAGGGTTCTCGGT	0.532000													34	45					0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40879859	40879859	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:40879859C>A	ENST00000539317.1	+	6	471	c.278C>A	c.(277-279)cCt>cAt	p.P93H	SMAP2_ENST00000487871.1_3'UTR	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	173	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCACAGCTACCTCGGAAAAGC	0.418000													8	31					3.09899e-07	3.13457e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179549115	179549115	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179549115G>A	ENST00000589042.1	-	132	32888	c.32664C>T	c.(32662-32664)acC>acT	p.T10888T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T9644T|TTN_ENST00000591111.1_Silent_p.T10571T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10571	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCCTGGGTAATTTGCA	0.388000													22	26					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897021	48897021	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:48897021A>G	ENST00000394754.1	+	9	3365	c.3251A>G	c.(3250-3252)gAt>gGt	p.D1084G	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D1084G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D1084G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D1084G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D1037G|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.D346G|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.D380G	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1037					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GACGGGGGAGATCTGAAGGTA	0.393000													9	35					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929907	35929907	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:35929907A>G	ENST00000374694.1	-	1	455	c.451T>C	c.(451-453)Tac>Cac	p.Y151H		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	151	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGCGGTTGTAGTCCATGCAC	0.766000													4	6					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236447	103236447	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:103236447C>T	ENST00000233969.2	+	1	282	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	47						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GGCACCAGTTCCAGCCCGCCT	0.687000													8	18					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688835	60688835	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:60688835G>A	ENST00000335712.6	-	4	1439	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.P73P|BCL11A_ENST00000356842.4_Silent_p.P404P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.P370P|BCL11A_ENST00000358510.4_Silent_p.P370P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	404					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCACTTGTAGGGCTTCTCGC	0.597000			T	IGH@	B-CLL								128	309					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100515259	100515259	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:100515259C>T	ENST00000471714.1	-	52	3941	c.3832G>A	c.(3832-3834)Gaa>Aaa	p.E1278K	ABI3BP_ENST00000383691.4_Missense_Mutation_p.E555K|ABI3BP_ENST00000284322.5_Missense_Mutation_p.E601K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	601						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTACCAGGTTCGCTCTGAGAG	0.318000													11	28					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023579	6023579	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6023579A>T	ENST00000330728.4	-	1	845	c.800T>A	c.(799-801)aTc>aAc	p.I267N		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAATAAGGATAAGATCAGA	0.468000													5	22					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10851854	10851854	+	Silent	SNP	C	C	T	rs139180704		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:10851854C>T	ENST00000283027.5	+	7	595	c.576C>T	c.(574-576)atC>atT	p.I192I	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.I181I	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	192					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CAGCACACATCGATGGAGCAG	0.587000													19	37					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078435	75078435	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:75078435G>A	ENST00000326665.5	-	9	1277	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.F156F	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	353										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCATTCAGGAAAAAGGTGA	0.423000													14	37					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75960883	75960883	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:75960883G>A	ENST00000274364.6	+	22	2859	c.2562G>A	c.(2560-2562)aaG>aaA	p.K854K	IQGAP2_ENST00000502745.1_Silent_p.K350K|IQGAP2_ENST00000379730.3_Silent_p.K356K|IQGAP2_ENST00000396234.3_Silent_p.K350K	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	854					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGCTGAACAAGAAAAAAGGAG	0.328000													7	21					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99861889	99861889	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:99861889C>T	ENST00000409679.1	-	4	361	c.217G>A	c.(217-219)Gat>Aat	p.D73N	LYG2_ENST00000409238.1_Missense_Mutation_p.D73N|LYG2_ENST00000333017.2_Missense_Mutation_p.D73N			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	73					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	p.D73N(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GCCCTCAAATCCATCTCAGCA	0.488000													37	32					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087479	47087479	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:47087479C>T	ENST00000374312.1	+	3	1115	c.696C>T	c.(694-696)gtC>gtT	p.V232V	NPY4R_ENST00000395716.1_Silent_p.V232V	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TCATCCTGGTCTGTTATGCAC	0.602000													23	122					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104902005	104902005	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:104902005G>A	ENST00000533400.1	-	4	375	c.340C>T	c.(340-342)Cct>Tct	p.P114S	CASP1_ENST00000598974.1_Missense_Mutation_p.P114S|CASP1_ENST00000393136.4_Missense_Mutation_p.P93S|CASP1_ENST00000593315.1_Missense_Mutation_p.P93S|CASP1_ENST00000525825.1_Missense_Mutation_p.P93S|CASP1_ENST00000594519.1_Missense_Mutation_p.P21S|CASP1_ENST00000534497.1_Missense_Mutation_p.P21S|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000446369.1_Missense_Mutation_p.P21S|CASP1_ENST00000528974.1_Missense_Mutation_p.P75S|CASP1_ENST00000436863.3_Missense_Mutation_p.P114S|CASP1_ENST00000526568.1_Missense_Mutation_p.P21S|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.P77S|CASP1_ENST00000531166.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	114					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	ACTGCCTGAGGAGCTGCAAGA	0.483000													9	15					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119128	1119128	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:1119128A>T	ENST00000361757.3	-	14	1646	c.1409T>A	c.(1408-1410)aTg>aAg	p.M470K	SBNO2_ENST00000587024.1_Missense_Mutation_p.M470K|SBNO2_ENST00000438103.2_Missense_Mutation_p.M413K	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	470					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGACCTTCATGTCCATGGC	0.667000													5	15					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95673862	95673862	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:95673862G>A	ENST00000376887.4	-	31	4059	c.3945C>T	c.(3943-3945)ccC>ccT	p.P1315P	ABCC4_ENST00000412704.1_Silent_p.P1268P	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1315					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTAAGGTCGAGGGCTGTCCAT	0.383000													13	39					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31917638	31917638	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:31917638C>T	ENST00000396184.3	-	6	641	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	PDE1C_ENST00000396193.1_Missense_Mutation_p.R206Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R146Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R146Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R146Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	146					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R146Q(4)|p.R206Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTTTGATGTCCGTCTATACAT	0.343000													9	23					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10412891	10412891	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10412891C>T	ENST00000226207.5	-	15	1592	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	500	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCTGCTCCAGCACGAAC	0.483000													34	65					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922080	190922080	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:190922080C>T	ENST00000260950.4	-	3	1164	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	344					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTGGAGACATCTTTGTGGGAG	0.398000													24	15					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99913410	99913410	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:99913410G>A	ENST00000332397.6	+	7	1388	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D25N	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	402										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						AATCACAGAGGATCCTGTCAT	0.512000													47	122					0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333576	44333576	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:44333576C>T	ENST00000335769.2	-	1	82	c.55G>A	c.(55-57)Gat>Aat	p.D19N	WFDC10B_ENST00000330523.5_5'UTR|WFDC13_ENST00000305479.2_Intron	NM_172131.2	NP_742143.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TAACCAAAATCCCAAAGCAAA	0.507000													77	104					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782696	134782696	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:134782696G>A	ENST00000503143.2	-	1	342	c.103C>T	c.(103-105)Cca>Tca	p.P35S	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	35						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGAACTCTGGGGTTTCCCCA	0.597000													3	12					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113380127	113380127	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:113380127G>A	ENST00000316407.4	-	7	812	c.402C>T	c.(400-402)gtC>gtT	p.V134V	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.V134V	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	134					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAACAACAGAGACCTTTGAGT	0.383000													25	58					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881294	142881294	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142881294C>T	ENST00000446620.1	+	1	783	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	261					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TGGGGGCCATCAAAGCTATCA	0.478000													25	80					0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58003536	58003536	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:58003536C>T	ENST00000424930.2	+	4	487	c.258C>T	c.(256-258)ccC>ccT	p.P86P	ZNF419_ENST00000520540.1_Silent_p.P73P|ZNF419_ENST00000221735.7_Silent_p.P85P|ZNF419_ENST00000518999.1_Silent_p.P86P|ZNF419_ENST00000442920.2_Silent_p.P72P|ZNF419_ENST00000426954.2_Silent_p.P73P|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000354197.4_Silent_p.P73P|ZNF419_ENST00000347466.6_Intron	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GGGAGGAGCCCTTCATGCCTG	0.512000													14	50					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535541	90535541	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:90535541C>T	ENST00000602681.1	+	0	1445																											ACTCCTCCTCCCCTGCGGGAC	0.602000													46	102					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794496	15794496	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:15794496C>G	ENST00000550308.1	+	7	1221	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	CYP4F12_ENST00000324632.9_Missense_Mutation_p.Q281E	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTCCCCACTCAGGGTATTGA	0.527000													29	79					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123282718	123282718	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:123282718G>A	ENST00000253079.6	+	8	1292	c.948G>A	c.(946-948)aaG>aaA	p.K316K	CCDC62_ENST00000537566.1_Silent_p.K77K|CCDC62_ENST00000392440.2_Silent_p.K77K|CCDC62_ENST00000392441.4_Silent_p.K316K	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	316						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ATGACTCAAAGATGGAGGAAT	0.338000													10	18					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731166	21731166	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:21731166C>T	ENST00000584755.1	+	2	865	c.468C>T	c.(466-468)ttC>ttT	p.F156F	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Silent_p.F156F																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TGCAGATCTTCGTGAAGACCC	0.537000													20	42					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573559	140573559	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140573559A>T	ENST00000239446.4	+	1	1618	c.1434A>T	c.(1432-1434)agA>agT	p.R478S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		478	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACAGACAGAGACTCGGGCA	0.667000													19	203					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38700881	38700881	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:38700881C>T	ENST00000379931.3	+	12	2611	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A	TACC1_ENST00000348567.4_Silent_p.A294A|TACC1_ENST00000520615.1_Silent_p.A537A|TACC1_ENST00000330691.6_Silent_p.A306A|TACC1_ENST00000317827.4_Silent_p.A732A|TACC1_ENST00000520973.1_Silent_p.A508A|TACC1_ENST00000276520.8_Silent_p.A322A|TACC1_ENST00000520611.1_Silent_p.A169A|TACC1_ENST00000518415.1_Silent_p.A658A|TACC1_ENST00000519416.1_Silent_p.A536A|TACC1_ENST00000443286.2_Silent_p.A719A			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	732	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GATACCAGGCCCTGAAAATCC	0.393000													33	74					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91784718	91784718	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:91784718A>G	ENST00000370425.3	-	25	2827	c.2729T>C	c.(2728-2730)tTg>tCg	p.L910S	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.L142S|HFM1_ENST00000370424.3_Missense_Mutation_p.L589S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	910	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAAACTATTCAATAGTACAGC	0.308000													12	31					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79815612	79815612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:79815612G>T	ENST00000282226.4	+	4	573	c.418G>T	c.(418-420)Gga>Tga	p.G140*	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	140										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGGTCCAAATGGAAATAGCAA	0.438000													4	44					0.150653	0.150965	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50716104	50716104	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:50716104G>A	ENST00000449103.1	-	33	5252	c.5112C>T	c.(5110-5112)gtC>gtT	p.V1704V	PLXNB2_ENST00000359337.4_Silent_p.V1704V			O15031	PLXB2_HUMAN	plexin B2	1704					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTCGTGGACATGCACGT	0.622000													18	75					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952727	54952727	+	Missense_Mutation	SNP	C	C	T	rs11541701	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:54952727C>T	ENST00000273286.5	-	3	959	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.R190Q|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	266						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CAAGAGTTCTCGCTCCCCCGC	0.617000													21	26					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007581	161007581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:161007581C>T	ENST00000447678.1	-	26	4149	c.4029G>A	c.(4027-4029)tgG>tgA	p.W1343*	LPA_ENST00000316300.5_Nonsense_Mutation_p.W1343*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3851	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTACTCCCATCTGACAC	0.502000													25	44					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251006	83251006	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:83251006C>T	ENST00000549919.1	+	3	2088	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F	TMTC2_ENST00000321196.3_Missense_Mutation_p.L101F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L101F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	101						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGTCACTGGTCTCTTCACAAG	0.507000													36	74					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488852	20488852	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:20488852G>A	ENST00000555186.1	+	0	335					NR_038836.1																						GTTTCTGTTGGGACTGCTGGG	0.448000													7	55					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648930	169648930	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:169648930G>A	ENST00000366787.3	-	4	440	c.191C>T	c.(190-192)cCa>cTa	p.P64L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	64	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTTCACCGGTGGGATGTAGTC	0.607000													20	42					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542052	46542052	+	Missense_Mutation	SNP	G	G	A	rs116177254	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:46542052G>A	ENST00000296142.3	+	2	934	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	121					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGGTGTTCCGAATTCTGAAG	0.443000													36	88					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691979	116691979	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:116691979C>T	ENST00000357780.3	-	3	909	c.795G>A	c.(793-795)caG>caA	p.Q265Q		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCGCCAGCCTCTGCCGCAGCT	0.652000													120	131					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52709786	52709786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:52709786G>A	ENST00000293670.3	-	7	1215	c.1153C>T	c.(1153-1155)Caa>Taa	p.Q385*	AC121757.1_ENST00000594763.1_Missense_Mutation_p.24_24insY	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	385	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCATGTCTTGCTTGGCCTTC	0.647000													16	48					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44892134	44892134	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44892134G>A	ENST00000330997.4	-	4	337	c.273C>T	c.(271-273)atC>atT	p.I91I	ZNF285_ENST00000591679.1_Silent_p.I98I|ZNF285_ENST00000544719.2_Silent_p.I91I|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GAAGGTTCACGATATAATCCT	0.418000													20	51					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174573	63174573	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:63174573G>A	ENST00000322893.7	-	11	2888	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	874					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTATCCAAACGAAGGTCACTT	0.507000													20	74					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441534	44441534	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:44441534A>C	ENST00000291547.5	+	8	1053	c.842A>C	c.(841-843)cAc>cCc	p.H281P	PKNOX1_ENST00000432907.2_Missense_Mutation_p.H164P	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	281							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CTCTTCCAGCACATCGGGGTA	0.557000													15	36					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158655957	158655957	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:158655957G>A	ENST00000263640.3	-	3	478	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ACVR1_ENST00000434821.1_Missense_Mutation_p.P17S|ACVR1_ENST00000410057.2_Missense_Mutation_p.P17S|ACVR1_ENST00000409283.2_Missense_Mutation_p.P17S	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	17					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTAGGGGAGGGGAGAGCAATC	0.353000													30	23					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704165	131704165	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131704165G>A	ENST00000409359.1	+	4	4150	c.2952G>A	c.(2950-2952)acG>acA	p.T984T	ARHGEF4_ENST00000409303.1_Silent_p.T128T|ARHGEF4_ENST00000428230.2_Silent_p.T128T|ARHGEF4_ENST00000525839.1_Silent_p.T128T|ARHGEF4_ENST00000326016.5_Silent_p.T128T|ARHGEF4_ENST00000392953.3_Silent_p.T128T			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	128					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GTGCTCCAACGGGACTGAACC	0.527000													51	36					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378207	18378207	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:18378207T>A	ENST00000392413.3	-	3	358	c.143A>T	c.(142-144)gAg>gTg	p.E48V	KIAA1683_ENST00000600328.2_Missense_Mutation_p.E48V|KIAA1683_ENST00000600359.2_Missense_Mutation_p.E2V	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	48						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGCGCTTTCTCCATTTTGTC	0.652000													52	97					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024414	55024414	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:55024414C>T	ENST00000324000.3	+	3	2607	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	191					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	p.F191F(1)		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)		GTTGCAATTTCGCCCCTACGG	0.403000													16	39					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110825108	110825108	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:110825108C>T	ENST00000375820.4	-	41	3636	c.3515G>A	c.(3514-3516)gGa>gAa	p.G1172E		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1172	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GAATCCTCTTCCTGGTAGACC	0.443000													21	66					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20841288	20841288	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20841288C>T	ENST00000262715.5	-	48	6873	c.6833G>A	c.(6832-6834)aGg>aAg	p.R2278K	TEP1_ENST00000556935.1_Missense_Mutation_p.R2170K|TEP1_ENST00000545983.1_Missense_Mutation_p.R616K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2278					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGCAGAACTCCTTGGTATACA	0.493000													26	59					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10924846	10924846	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:10924846C>T	ENST00000283141.6	+	15	1486	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	SYCP2L_ENST00000543878.1_Missense_Mutation_p.S238F|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	397						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCACAAGTTtccattcaagct	0.308000													10	14					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19940296	19940296	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:19940296C>T	ENST00000295824.9	-	8	1705	c.1544G>A	c.(1543-1545)gGa>gAa	p.G515E	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.G385E	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	515					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GAGACAAGCTCCAAATGTGCA	0.388000													14	44					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73007710	73007710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:73007710G>A	ENST00000268057.4	+	5	340	c.299G>A	c.(298-300)aGt>aAt	p.S100N	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.S88N|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.S108N	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	100					adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGTCCTCAGAGTGCTGATAAC	0.453000									Bardet-Biedl syndrome				24	60					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44589343	44589343	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:44589343G>A	ENST00000245121.5	+	6	528	c.333_splice	c.e6-1	p.G112_splice	KATNAL2_ENST00000356157.7_Splice_Site_p.G184_splice|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	184						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TCCCTTTCAGGGCCAAATCAT	0.438000													7	41					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52841067	52841067	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:52841067G>A	ENST00000449956.2	+	19	2213	c.2207G>A	c.(2206-2208)aGg>aAg	p.R736K	ITIH3_ENST00000416872.2_Missense_Mutation_p.R544K	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	736					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGTGGAACAGGGCCGTGCCG	0.547000													5	6					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242189371	242189371	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:242189371T>C	ENST00000391975.1	-	12	1624	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	HDLBP_ENST00000427183.2_Missense_Mutation_p.K433R|HDLBP_ENST00000310931.4_Missense_Mutation_p.K466R|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Missense_Mutation_p.K466R	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	466	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CACGGACACCTTGTACTGGTC	0.517000													45	49					0	0	1	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090699	22090699	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22090699C>T	ENST00000542354.1	+	0	371																											GACTCTGCCTCTTACTTCTGC	0.463000													5	25					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	403156	403156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:403156C>T	ENST00000331563.2	+	9	1892	c.1816C>T	c.(1816-1818)Cag>Tag	p.Q606*		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	606					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGAGCCCCCAGATCGTGGG	0.716000													5	5					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214805901	214805901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:214805901C>T	ENST00000366955.3	+	10	1570	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	468	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAGGCGTTCCAGGCGAGTCA	0.448000													16	28					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120609246	120609246	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:120609246G>T	ENST00000315870.5	+	9	1044	c.896G>T	c.(895-897)gGt>gTt	p.G299V	ING3_ENST00000431467.1_Missense_Mutation_p.G284V	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	299					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TCACGGAGTGGTCGAAAGAGC	0.438000													8	18					1.06961e-07	1.08246e-07	1	1	0
SPIB	6689	broad.mit.edu	37	19	50926219	50926219	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:50926219C>T	ENST00000595883.1	+	4	289	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SPIB_ENST00000270632.7_Silent_p.N88N|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Silent_p.N88N	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	88					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTGCAGGGAACCTCGAACTGG	0.652000													12	44					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63283240	63283240	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:63283240C>T	ENST00000282549.2	+	5	1130	c.854C>T	c.(853-855)cCg>cTg	p.P285L	OTX1_ENST00000366671.3_Missense_Mutation_p.P285L	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	285	His-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCGCACCACCCGTTGAGCCAG	0.637000													22	50					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50878455	50878455	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:50878455G>A	ENST00000359139.3	+	20	2667	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	PPP6R2_ENST00000216061.5_Missense_Mutation_p.R784Q|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R757Q|PPP6R2_ENST00000395741.3_Missense_Mutation_p.R758Q	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	784						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAGGGCAGCCGGAGCCAAGGC	0.647000													7	33					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538351	63538351	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:63538351A>G	ENST00000550760.3	+	4	1103	c.924A>G	c.(922-924)ggA>ggG	p.G308G		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TTCATACTGGAGAGAAACCCT	0.373000													2	1					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43652381	43652381	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:43652381C>T	ENST00000372492.4	+	6	1297	c.973C>T	c.(973-975)Cct>Tct	p.P325S	WDR65_ENST00000528956.1_Missense_Mutation_p.P325S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	325										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGCAGATTCCTGTGGACCC	0.453000													13	43					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451818	55451818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:55451818C>T	ENST00000588756.1	-	6	855	c.369G>A	c.(367-369)tgG>tgA	p.W123*	NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W123*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.W123*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.W151*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W123*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	123							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGAATTTCTCCATCCTTCCT	0.433000													89	223					0	0	1	0	0
ODF3B	440836	broad.mit.edu	37	22	50968984	50968984	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:50968984C>T	ENST00000405135.1	-	6	802	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	ODF3B_ENST00000329363.4_Silent_p.R229R|ODF3B_ENST00000428989.2_Silent_p.R229R|ODF3B_ENST00000403326.1_Silent_p.R161R|ODF3B_ENST00000401779.1_Missense_Mutation_p.E206K			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	0										lung(2)	2						CGCGGGGCTTCCGGTGCTGCG	0.736000													3	4					0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139650977	139650977	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:139650977G>A	ENST00000371688.3	-	3	518	c.223C>T	c.(223-225)Cct>Tct	p.P75S	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	98					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CACTTACCAGGAAAAGCGAAT	0.522000													32	83					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23385559	23385559	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:23385559G>A	ENST00000258729.3	-	8	1297	c.941_splice	c.e8+1	p.P314_splice		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	314	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGCACTCACGGAGATATCGT	0.373000													14	47					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921171	5921171	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:5921171T>A	ENST00000399933.3	-	8	4824	c.4825A>T	c.(4825-4827)Aaa>Taa	p.K1609*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.K1579*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1609										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGCTACTTTTGTCTTCTCCT	0.363000													13	38					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874486	33874486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:33874486C>T	ENST00000374408.3	-	4	2192	c.2096G>A	c.(2095-2097)gGg>gAg	p.G699E		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	699										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTTGGGACCCCCAGGCTCAGT	0.582000													27	117					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50664108	50664108	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:50664108C>T	ENST00000268459.3	+	7	698	c.474C>T	c.(472-474)agC>agT	p.S158S		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	158	EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACATCACCAGCTTGCTGCACA	0.582000													18	30					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656526	12656526	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:12656526G>A	ENST00000425538.1	+	10	2121	c.1921G>A	c.(1921-1923)Ggg>Agg	p.G641R	MYOCD_ENST00000395988.1_Missense_Mutation_p.G545R|MYOCD_ENST00000343344.4_Missense_Mutation_p.G641R	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	641					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCACCGCTGGGGGCTGTGAA	0.557000													44	100					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113141783	113141783	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:113141783G>A	ENST00000401783.2	-	44	10588	c.10252C>T	c.(10252-10254)Cca>Tca	p.P3418S	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3395S|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1344S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3418	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAGCTGGTGGACCACATGAG	0.398000													10	31					0	0	1	0	0
TRAV6	6956	broad.mit.edu	37	14	22237103	22237103	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22237103G>A	ENST00000390428.3	+	0	187																											CGGCCACCCTGACCTGCAACT	0.468000													5	24					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164716414	164716414	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:164716414G>A	ENST00000264382.3	-	38	4516	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1485	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)	AGGATACGTGGAACGAGAAAT	0.393000										HNSCC(35;0.089)			16	50					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071803	240071803	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:240071803C>T	ENST00000255380.4	+	5	1831	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	351					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AACTCCGCCTCCTCCGACGAG	0.572000													5	9					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112672959	112672959	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:112672959G>A	ENST00000550722.1	-	37	5794	c.5399C>T	c.(5398-5400)gCt>gTt	p.A1800V	HECTD4_ENST00000430131.2_Missense_Mutation_p.A1524V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1774V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCCATCCACAGCCTCACTCTC	0.463000													8	21					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502326	94502326	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:94502326C>T	ENST00000370225.3	-	26	3918	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1278					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGAATCCTCCGTGACCTTC	0.438000													41	103					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56170921	56170921	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:56170921C>T	ENST00000399503.3	+	10	1749	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	583					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAGAGATGGCCCTCAGGCGTC	0.502000													31	70					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003922	93003922	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:93003922C>T	ENST00000523629.1	-	7	1390	c.936G>A	c.(934-936)agG>agA	p.R312R	RUNX1T1_ENST00000436581.2_Silent_p.R323R|RUNX1T1_ENST00000396218.1_Silent_p.R285R|RUNX1T1_ENST00000265814.3_Silent_p.R312R|RUNX1T1_ENST00000518844.1_Silent_p.R285R|RUNX1T1_ENST00000422361.2_Silent_p.R275R|RUNX1T1_ENST00000360348.2_Silent_p.R275R|RUNX1T1_ENST00000520724.1_Silent_p.R275R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	312					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GATAGGAGTCCCTGTAGTGGT	0.547000													38	99					0	0	1	0	0
CBY1	25776	broad.mit.edu	37	22	39064102	39064102	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:39064102C>T	ENST00000216029.3	+	2	177	c.43C>T	c.(43-45)Cct>Tct	p.P15S	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000422408.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	15					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					GAAGACACCTCCTCGGAAGTC	0.532000													17	40					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29493477	29493477	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:29493477G>A	ENST00000283351.4	-	5	961	c.626C>T	c.(625-627)tCa>tTa	p.S209L	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S155L|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.S209L	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	209					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCATAAATTGATTCAGCTCT	0.308000													3	10					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204218034	204218034	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:204218034G>A	ENST00000272203.3	-	12	2055	c.1739C>T	c.(1738-1740)gCc>gTc	p.A580V	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A600V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	580										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTCTGGGTAGGCGGGCTGGCT	0.577000													9	19					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482889	42482889	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:42482889G>A	ENST00000545399.1	-	12	1691	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ATP1A3_ENST00000543770.1_Missense_Mutation_p.A511V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A500V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A470V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	500					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCGCTCGGGGGCACCCTTCAT	0.617000													28	72					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618811	20618811	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:20618811C>T	ENST00000504154.1	+	35	4378	c.4126C>T	c.(4126-4128)Ctt>Ttt	p.L1376F	SLIT2_ENST00000273739.5_Missense_Mutation_p.L1389F|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1372F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L1368F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1376					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGACCCTTGCCTTGGAAATAA	0.567000													21	46					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21699320	21699320	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:21699320C>T	ENST00000261195.2	-	12	1761	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	503					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGAAATACTCCAAGATGACAA	0.368000													6	29					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67390495	67390495	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:67390495G>A	ENST00000371026.3	-	1	75	c.20C>T	c.(19-21)tCc>tTc	p.S7F	WDR78_ENST00000371023.3_Missense_Mutation_p.S7F|WDR78_ENST00000371022.3_Missense_Mutation_p.S7F|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	7										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CGAGGCTCCGGAATGTTTGCC	0.697000													25	44					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160732139	160732139	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:160732139C>T	ENST00000263636.4	-	12	1817	c.1790G>A	c.(1789-1791)tGc>tAc	p.C597Y	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.C597Y|LY75_ENST00000554112.1_Missense_Mutation_p.C597Y|LY75_ENST00000553424.1_Missense_Mutation_p.C597Y|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.C597Y	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CATAGCCACGCAGCCGCCCGG	0.428000													70	44					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56142799	56142799	+	Silent	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:56142799G>T	ENST00000508342.1	-	10	2844	c.2545C>A	c.(2545-2547)Cgg>Agg	p.R849R	NEDD4_ENST00000506154.1_Silent_p.R833R|NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000435532.3_Silent_p.R430R			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	849	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.R777W(1)|p.R430W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTGCATGCCGGACTTCCCAG	0.458000													64	136					7.73544e-29	7.89847e-29	1	1	0
ADD1	118	broad.mit.edu	37	4	2901061	2901061	+	Missense_Mutation	SNP	C	C	T	rs145933934	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:2901061C>T	ENST00000355842.3	+	10	1923	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	ADD1_ENST00000503455.2_Missense_Mutation_p.R354C|ADD1_ENST00000398123.2_Missense_Mutation_p.R354C|ADD1_ENST00000398125.1_Missense_Mutation_p.R354C|ADD1_ENST00000398129.1_Missense_Mutation_p.R354C|ADD1_ENST00000264758.7_Missense_Mutation_p.R354C|ADD1_ENST00000513328.2_Missense_Mutation_p.R354C|ADD1_ENST00000446856.1_Missense_Mutation_p.R354C			P35611	ADDA_HUMAN	adducin 1 (alpha)	354					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCAAGTCCCGTTCCCCAGG	0.537000													9	45					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993650	45993650	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:45993650C>T	ENST00000400374.3	+	1	45	c.15C>T	c.(13-15)tcC>tcT	p.S5S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	5						keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCGTCTGCTCCAGCGACCTGA	0.642000													25	42					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47880452	47880452	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:47880452C>T	ENST00000328771.4	+	13	3044	c.2695C>T	c.(2695-2697)Cct>Tct	p.P899S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	899						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGTCCGCATCCCTGCCCTCCA	0.642000													5	13					0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55957100	55957100	+	Splice_Site	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:55957100C>A	ENST00000577830.1	-	3	750		c.e3-1		CUEDC1_ENST00000407144.2_Splice_Site|CUEDC1_ENST00000360238.2_Splice_Site|CUEDC1_ENST00000577840.1_Splice_Site	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TTTCCAAGATCTAAATCAGAG	0.468000													32	110					2.70662e-09	2.74486e-09	1	1	0
MAPT	4137	broad.mit.edu	37	17	44060965	44060965	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:44060965C>T	ENST00000344290.5	+	6	1117	c.795C>T	c.(793-795)atC>atT	p.I265I	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.I265I|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.I265I|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Silent_p.I265I	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	265					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGGGTGCCATCCCCCTCCCTG	0.677000													16	25					0	0	1	0	0
ACOT1	641371	broad.mit.edu	37	14	74004392	74004392	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:74004392C>T	ENST00000311148.4	+	1	575	c.267C>T	c.(265-267)ccC>ccT	p.P89P	HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CCGAGAAACCCTTGGTGCGGC	0.736000													3	20					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131862950	131862950	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:131862950G>A	ENST00000318080.2	-	7	1118	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	275					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GGAGCGCACGGAATCCCGGTT	0.617000													6	23					0	0	1	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966000	139966000	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:139966000C>T	ENST00000280614.2	+	3	861	c.668C>T	c.(667-669)cCt>cTt	p.P223L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	223					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CCCTGGTCACCTTGTCTAGAT	0.448000													16	54					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221772	59221772	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:59221772C>T	ENST00000262717.4	+	12	2648	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	CDH20_ENST00000538374.1_Silent_p.F750F|CDH20_ENST00000536675.2_Silent_p.F750F			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	750					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGTATATGTTCGAGGGGGACG	0.647000													7	11					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901560	13901560	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:13901560C>T	ENST00000265104.4	-	14	1957	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	618	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R618Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGCTGGTTTCGAGCCAGAGG	0.473000									Kartagener syndrome				25	12					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392614	178392614	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178392614G>A	ENST00000320129.3	+	5	1512	c.1209G>A	c.(1207-1209)cgG>cgA	p.R403R	ZNF454_ENST00000519564.1_Silent_p.R403R	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CACGACATCGGAAAATTCACA	0.428000													14	21					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99886606	99886606	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:99886606G>A	ENST00000421999.2	+	6	586	c.440G>A	c.(439-441)aGg>aAg	p.R147K	CMSS1_ENST00000489081.1_Missense_Mutation_p.R129K	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		GTAAAACTTAGGAAGAACCAC	0.448000													39	92					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602559	64602559	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:64602559C>T	ENST00000342711.5	-	17	2019	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	674					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CAGTTGCTCTCCGTCTCCCGC	0.701000													10	24					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204043	9204043	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9204043G>A	ENST00000429566.3	+	1	189	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGTCGTGGGGAACCTGCTCA	0.537000													15	41					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035973	37035973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:37035973G>A	ENST00000379242.3	+	15	2050	c.1748G>A	c.(1747-1749)tGg>tAg	p.W583*	VIT_ENST00000389975.3_Nonsense_Mutation_p.W568*|VIT_ENST00000497382.1_Nonsense_Mutation_p.W237*|VIT_ENST00000401530.1_Nonsense_Mutation_p.W547*|VIT_ENST00000404084.1_Nonsense_Mutation_p.W520*|VIT_ENST00000379241.3_Nonsense_Mutation_p.W546*	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	568	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GTGGGCTACTGGAGTGGTGGC	0.572000													16	43					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163228391	163228391	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:163228391C>T	ENST00000332142.5	-	16	3638	c.3539G>A	c.(3538-3540)gGa>gAa	p.G1180E		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1180					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCCACGATTCCTACAGTGCT	0.413000													26	18					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	65004214	65004214	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:65004214C>T	ENST00000525437.1	+	0	1464							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GACGGCGCCCCTGGTTACCAC	0.662000													27	62					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17191264	17191264	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:17191264C>T	ENST00000265970.7	-	1	24	c.25G>A	c.(25-27)Gga>Aga	p.G9R	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	9	Interaction with clathrin.				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)	TCTTTAAATCCGCTGTTGCTA	0.393000													15	47					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226516273	226516273	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:226516273C>T	ENST00000272907.6	+	6	2367	c.1954C>T	c.(1954-1956)Cgt>Tgt	p.R652C		NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	652																	GTTAGCCAATCGTGATTGACT	0.498000													124	91					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333417	27333417	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:27333417C>T	ENST00000405846.3	-	2	769	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GPR12_ENST00000381436.2_Missense_Mutation_p.R183Q	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	183						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGACTCGTCTCGGAGGCAGTT	0.602000													16	34					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278616	44278616	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44278616G>A	ENST00000262888.3	-	3	806	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	137					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	AGGGCTGCGGGGAGGTCAGCG	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21390454	21390454	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:21390454C>T	ENST00000313654.9	+	13	1969	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	LAMA3_ENST00000399516.3_Silent_p.F576F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	576	Domain V.|Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTATGATTTCCCCCACTGCC	0.562000													16	33					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203959	84203959	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:84203959G>A	ENST00000378553.5	+	8	1649	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	509	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCTGCCAGGGAAGGTAATGT	0.617000													16	16					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763946	92763946	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:92763946C>T	ENST00000318238.4	-	5	2555	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	SAMD9L_ENST00000411955.1_Missense_Mutation_p.D447N|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D447N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	447										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTCAGGATCAAACTCCAAC	0.343000													22	58					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61006804	61006804	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:61006804C>T	ENST00000238714.3	+	9	976	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	243					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GCTAGGATTCCTTGGTGGTGT	0.348000													18	50					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39514386	39514386	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:39514386G>A	ENST00000537403.1	-	12	2476	c.1274C>T	c.(1273-1275)tCt>tTt	p.S425F	SEC23A_ENST00000307712.6_Missense_Mutation_p.S627F|SEC23A_ENST00000545328.2_Missense_Mutation_p.S598F|SEC23A_ENST00000536508.1_Missense_Mutation_p.S525F			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	627					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCACTAAAAGAATACGCATA	0.358000													16	25					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942551	154942551	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:154942551G>A	ENST00000448116.2	-	1	672	c.452C>T	c.(451-453)cCc>cTc	p.P151L	SHC1_ENST00000368453.4_Missense_Mutation_p.P41L|SHC1_ENST00000368445.5_Missense_Mutation_p.P151L|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.P41L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	151					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTGTCGTTGGGATGCAGCCA	0.637000													21	71					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47407554	47407554	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:47407554G>A	ENST00000361866.3	+	8	904	c.790G>A	c.(790-792)Gac>Aac	p.D264N		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	264	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTCCGGGGCGACCCCGGCTT	0.687000													23	33					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262141	45262141	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:45262141G>A	ENST00000303230.4	-	8	2612	c.2555C>T	c.(2554-2556)cCg>cTg	p.P852L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	852						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCTCGGTTCGGGGGGATGGC	0.637000													34	73					0	0	1	0	0
CBY1	25776	broad.mit.edu	37	22	39067154	39067154	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:39067154C>T	ENST00000216029.3	+	4	398	c.264C>T	c.(262-264)aaC>aaT	p.N88N	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	88	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGGAAGAGAACAATCTCTTGC	0.572000													28	90					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196388044	196388044	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:196388044C>T	ENST00000328557.4	+	3	1733	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		AGGATGTTGCCCCCATGTTAC	0.557000													35	81					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260332	44260332	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:44260332G>A	ENST00000315087.7	-	7	1464	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.F237F|ST8SIA5_ENST00000538168.1_Silent_p.F304F	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	268					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCGGCGATTCGAAGTCGTCCA	0.617000													9	16					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121477932	121477932	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:121477932C>T	ENST00000260197.7	+	37	5228	c.5099C>T	c.(5098-5100)tCc>tTc	p.S1700F	SORL1_ENST00000525532.1_Missense_Mutation_p.S644F|SORL1_ENST00000534286.1_Missense_Mutation_p.S610F|SORL1_ENST00000532694.1_Missense_Mutation_p.S546F|SORL1_ENST00000527934.1_Missense_Mutation_p.S315F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1700	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATGTGGGCCTCCCAGAGGGCT	0.453000													13	20					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71870278	71870278	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:71870278C>T	ENST00000373545.3	-	13	1724	c.1286G>A	c.(1285-1287)aGg>aAg	p.R429K	PHKA1_ENST00000373539.3_Missense_Mutation_p.R429K|PHKA1_ENST00000373542.4_Missense_Mutation_p.R429K|PHKA1_ENST00000541944.1_Missense_Mutation_p.R429K|PHKA1_ENST00000339490.3_Missense_Mutation_p.R429K			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	429					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGTAGAAAACCTGCGATTCAG	0.378000													10	8					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412121	154412121	+	Silent	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:154412121A>C	ENST00000414028.2	+	3	728	c.678A>C	c.(676-678)ccA>ccC	p.P226P	OPRM1_ENST00000452687.2_Silent_p.P226P|OPRM1_ENST00000522555.1_Silent_p.P126P|OPRM1_ENST00000360422.4_Silent_p.P226P|OPRM1_ENST00000330432.7_Silent_p.P226P|OPRM1_ENST00000337049.4_Silent_p.P226P|OPRM1_ENST00000229768.5_Silent_p.P226P|OPRM1_ENST00000520708.1_Silent_p.P126P|OPRM1_ENST00000518759.1_Silent_p.P145P|OPRM1_ENST00000522236.1_Silent_p.P126P|OPRM1_ENST00000435918.2_Silent_p.P226P|OPRM1_ENST00000428397.2_Silent_p.P226P|OPRM1_ENST00000524163.1_Silent_p.P226P|OPRM1_ENST00000419506.2_Silent_p.P226P|OPRM1_ENST00000434900.2_Silent_p.P319P	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	226					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTCTCATCCAACCTGGTACT	0.383000													26	70					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002221	98002221	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:98002221C>T	ENST00000355273.2	+	1	490	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TGCCTTAATTCATGAAGTCCT	0.348000													17	46					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653205	159653205	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:159653205T>A	ENST00000297267.9	+	11	1861	c.1661T>A	c.(1660-1662)aTg>aAg	p.M554K	FNDC1_ENST00000340366.6_Missense_Mutation_p.M491K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	554						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)		GACTCGCCCATGTCACCCTCA	0.632000													8	17					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632257	9632257	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:9632257C>T	ENST00000570827.2	+	15	3463	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y	USP43_ENST00000285199.6_Missense_Mutation_p.H1108Y|USP43_ENST00000570475.1_Missense_Mutation_p.H1103Y			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1108					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGTCAAATATCACACTCTTTC	0.507000											OREG0024168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	84					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167160751	167160751	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:167160751G>A	ENST00000303354.6	-	6	1028	c.688C>T	c.(688-690)Cca>Tca	p.P230S	SCN9A_ENST00000409435.1_Missense_Mutation_p.P229S|SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000409672.1_Missense_Mutation_p.P229S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	229						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)	TTCTTACCTGGGATTACAGAA	0.373000													15	22					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37815993	37815993	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:37815993C>T	ENST00000326524.2	-	3	595	c.396G>A	c.(394-396)ctG>ctA	p.L132L	GDNF_ENST00000515058.1_Silent_p.L106L|GDNF_ENST00000381826.4_Silent_p.L123L|GDNF_ENST00000427982.1_Silent_p.L149L|GDNF_ENST00000344622.4_Silent_p.L106L	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	132					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TTTCATAGCCCAGACCCAAGT	0.458000													30	67					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:41199882G>A	ENST00000263413.3	-	4	697	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_ENST00000337836.5_Missense_Mutation_p.R145C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000													14	55					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171163	117171163	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:117171163A>T	ENST00000003084.6	+	4	616	c.484A>T	c.(484-486)Aag>Tag	p.K162*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.K162*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	162	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTGATTTATAAGAAGGTAAT	0.398000									Cystic Fibrosis				7	16					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175432	159175432	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159175432C>T	ENST00000537147.1	+	3	1046	c.203C>T	c.(202-204)aCc>aTc	p.T68I	DARC_ENST00000368122.2_Missense_Mutation_p.T68I|DARC_ENST00000368121.2_Missense_Mutation_p.T70I			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	68					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TTCATCCTCACCAGTGTCCTG	0.582000													30	85					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575725	22575725	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:22575725G>A	ENST00000357774.5	-	4	433	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCACTTTTTGGAAATAATTTT	0.299000													3	14					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146044254	146044254	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:146044254C>T	ENST00000296577.4	+	14	1860	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	449	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AATGAAGCCTCTGCAAATTGA	0.299000													11	30					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120609248	120609248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:120609248C>T	ENST00000315870.5	+	9	1046	c.898C>T	c.(898-900)Cga>Tga	p.R300*	ING3_ENST00000431467.1_Nonsense_Mutation_p.R285*	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	300					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACGGAGTGGTCGAAAGAGCAA	0.448000													8	18					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44131051	44131051	+	Silent	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44131051C>A	ENST00000222374.2	-	4	432	c.384G>T	c.(382-384)gtG>gtT	p.V128V		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	128	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GGACCTCCACCACAGGATTCT	0.667000													8	47					0.000442599	0.000445357	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6959408	6959408	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:6959408G>A	ENST00000389658.3	-	54	7803	c.7710C>T	c.(7708-7710)ctC>ctT	p.L2570L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2570	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCGTGCAGGAGAGCTTTTC	0.557000													24	70					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928203	21928203	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:21928203G>A	ENST00000542643.2	-	22	2006	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	RAP1GAP_ENST00000374765.4_Silent_p.S542S|RAP1GAP_ENST00000374761.2_Silent_p.S573S|RAP1GAP_ENST00000290101.4_Silent_p.S606S|RAP1GAP_ENST00000374763.2_Silent_p.S627S	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	542					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCATCTCTGGGGAGCTCTGAG	0.667000													12	39					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6646055	6646055	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:6646055G>A	ENST00000299441.3	-	20	7602	c.7191C>T	c.(7189-7191)tcC>tcT	p.S2397S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2397	Cadherin 23.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGAGACGGAGAGAATGG	0.557000													5	27					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17799553	17799553	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:17799553C>T	ENST00000378814.5	-	22	2733	c.2734G>A	c.(2734-2736)Gtg>Atg	p.V912M	KIF13A_ENST00000378816.5_Missense_Mutation_p.V912M|KIF13A_ENST00000378843.2_Missense_Mutation_p.V912M|KIF13A_ENST00000259711.6_Missense_Mutation_p.V912M|KIF13A_ENST00000378826.2_Missense_Mutation_p.V912M	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	912					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTGAAGGCACCTCGGGGTCC	0.522000													3	27					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117695433	117695433	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:117695433G>A	ENST00000276204.6	+	7	720	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	DOCK11_ENST00000276202.7_Missense_Mutation_p.E216K			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	216	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAATTCAAAAGAATCGAAAGG	0.368000													20	17					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875727	247875727	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247875727C>T	ENST00000302084.2	-	1	378	c.331G>A	c.(331-333)Gag>Aag	p.E111K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGAAGTACTCTGTGCAGCCT	0.498000													33	47					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155723145	155723145	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:155723145G>A	ENST00000437809.1	-	29	5814	c.5692C>T	c.(5692-5694)Cac>Tac	p.H1898Y	GON4L_ENST00000271883.5_Missense_Mutation_p.H1898Y|GON4L_ENST00000368331.1_Missense_Mutation_p.H1898Y			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1898					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCTCTCGGTGGGGGCTGCTG	0.592000													49	107					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31548997	31548997	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:31548997G>A	ENST00000380473.3	+	7	836	c.823G>A	c.(823-825)Gat>Aat	p.D275N	RP11-252M21.6_ENST00000433788.1_RNA|TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	275																	ACAAATTATTGATCGCTTTAT	0.294000													3	8					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141178	114141178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:114141178G>A	ENST00000371950.3	+	6	1206	c.482G>A	c.(481-483)tGg>tAg	p.W161*	HTR2C_ENST00000276198.1_Missense_Mutation_p.G193R|HTR2C_ENST00000371951.1_Missense_Mutation_p.G193R	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCCTGTGATTGGACTGAGGGA	0.443000													35	23					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49640045	49640045	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:49640045C>T	ENST00000334186.4	+	15	2079	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	PPFIA3_ENST00000602351.1_Missense_Mutation_p.S577F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	577						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTGGACGGCTCCGATGAGGAG	0.647000													3	9					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12211286	12211286	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:12211286G>A	ENST00000432424.2	+	0	1360							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CACTGATTGGGGAACATCAGG	0.532000													75	202					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743942	40743942	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:40743942C>T	ENST00000373198.3	-	23	3297	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q	PTPRT_ENST00000356100.2_Missense_Mutation_p.R1008Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R999Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1009Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R998Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1002Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R989Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	999	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGCCAGTATCGCACACATTT	0.507000													24	71					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480728	27480728	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:27480728G>A	ENST00000356183.4	-	32	4973	c.4958C>T	c.(4957-4959)tCc>tTc	p.S1653F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1653F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1653						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATGCCGGGGGAGTAGTAGCC	0.617000													10	23					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176306731	176306731	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176306731C>T	ENST00000329542.4	+	15	2647	c.2373C>T	c.(2371-2373)agC>agT	p.S791S	UNC5A_ENST00000261961.3_Silent_p.S751S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	791	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATCTCAGCTTCTTTGCCT	0.706000													9	31					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241689879	241689879	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:241689879C>T	ENST00000498729.2	-	28	3190	c.2944G>A	c.(2944-2946)Ggc>Agc	p.G982S	KIF1A_ENST00000320389.7_Missense_Mutation_p.G881S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	881					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGAGGAAGCCCTTCACCTCG	0.642000													5	31					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990687	134990687	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:134990687G>A	ENST00000535938.1	+	12	1519	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.R451Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.R451Q	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	451								p.R451Q(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGGCCAACGAAAACAGGAT	0.428000													38	19					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820975	55820975	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:55820975G>A	ENST00000328314.3	+	1	938	c.936_splice	c.e1+1	p.*313_splice		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAAAAACACTGATTTGAATGC	0.318000													4	14					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77755026	77755026	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:77755026C>T	ENST00000354212.4	-	20	3805	c.3552G>A	c.(3550-3552)agG>agA	p.R1184R	MAGI2_ENST00000419488.1_Silent_p.R1170R|MAGI2_ENST00000522391.1_Silent_p.R1184R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1184	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCTCCCATTCCTTATTGCTG	0.413000													18	39					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291376	103291376	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:103291376G>A	ENST00000520539.1	-	43	6668	c.6062C>T	c.(6061-6063)cCa>cTa	p.P2021L	UBR5_ENST00000220959.4_Missense_Mutation_p.P2021L|UBR5_ENST00000521922.1_Missense_Mutation_p.P2015L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2021					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCGGAAAAATGGATGGTTTTG	0.418000													14	61					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296110	20296110	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20296110T>A	ENST00000315947.1	+	1	503	c.503T>A	c.(502-504)tTt>tAt	p.F168Y	OR4N2_ENST00000568211.1_Missense_Mutation_p.F168Y	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGCTTGCCTTTTTGTGGCCCA	0.522000													33	270					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58235697	58235697	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:58235697G>A	ENST00000300900.4	+	7	733	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	212					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCCCAAGGAGGAGAAACTGAG	0.582000													34	27					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139591716	139591716	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:139591716C>G	ENST00000358430.3	-	4	796	c.564G>C	c.(562-564)aaG>aaC	p.K188N		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	188						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GTACCTGTTTCTTTTGGAGGA	0.448000													11	31					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6616888	6616888	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:6616888G>A	ENST00000264670.6	-	9	1284	c.973C>T	c.(973-975)Cct>Tct	p.P325S	NSUN2_ENST00000539938.1_Missense_Mutation_p.P89S|NSUN2_ENST00000506139.1_Missense_Mutation_p.P290S	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	325						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCTCAATAGGGTTTAGTGAA	0.458000													42	35					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377862	113377862	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:113377862G>A	ENST00000316407.4	-	7	3077	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S889S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	889	Ser-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGGGTGGGCTGGACTTTTCTG	0.418000													30	86					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004848	52004848	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:52004848G>A	ENST00000291707.3	-	1	195	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	47	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTGGGGGTAGGAGAAGGAGCA	0.567000													12	45					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266682	65266682	+	RNA	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:65266682A>T	ENST00000534336.1	+	0	1450					NR_002819.2																						TTTTTAACGTAATTTTAATAG	0.274000													3	17					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29552206	29552206	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:29552206C>T	ENST00000358273.4	+	17	2322	c.1939C>T	c.(1939-1941)Cat>Tat	p.H647Y	NF1_ENST00000356175.3_Missense_Mutation_p.H647Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	647					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTCCATGGATCATGAAGAATT	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			32	93					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000673	14000673	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:14000673G>A	ENST00000454313.1	-	6	1054	c.996C>T	c.(994-996)tcC>tcT	p.S332S	C19orf57_ENST00000346736.2_Silent_p.S332S|C19orf57_ENST00000586783.1_Silent_p.S332S|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	332					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCCCGAGGGAGGAGCATCCCA	0.662000													12	21					0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93650029	93650029	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:93650029G>A	ENST00000556883.1	-	2	1043	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	MOAP1_ENST00000298894.4_Missense_Mutation_p.H187Y			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	187					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tgagtagtatgaaacatccag	0.493000													20	43					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680441	159680441	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:159680441C>T	ENST00000393977.3	-	7	1537	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.G370R	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	418						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGCTGCTTCCATAGGTGGTG	0.597000													16	38					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011700	68011700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:68011700C>T	ENST00000268793.4	-	6	1237	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	263					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AATCTATCATCATGCCCAGGC	0.493000													10	10					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45691514	45691514	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:45691514G>A	ENST00000216211.4	+	6	810	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	UPK3A_ENST00000396082.2_Missense_Mutation_p.G139R	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	260					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAAGTCGCTGGGGGCCTCGGA	0.612000													18	77					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:28509498C>T	ENST00000564831.1	+	3	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	APOBR_ENST00000328423.5_Missense_Mutation_p.R1009C|APOBR_ENST00000431282.1_Missense_Mutation_p.R1009C	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000													6	11					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106152112	106152112	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:106152112C>T	ENST00000369704.3	+	10	1621	c.1487C>T	c.(1486-1488)tCa>tTa	p.S496L		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	496			S -> T (in dbSNP:rs11192036).							NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCTGTGAGATCAGACAGAAAT	0.299000													30	47					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61490981	61490981	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:61490981G>A	ENST00000257215.5	+	5	601	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	162					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCCACGGGCCGCACCTTTGTC	0.617000													4	95					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7804297	7804297	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7804297C>T	ENST00000380358.4	+	19	3284	c.3283C>T	c.(3283-3285)Ccc>Tcc	p.P1095S	CHD3_ENST00000330494.7_Missense_Mutation_p.P1036S|CHD3_ENST00000358181.4_Missense_Mutation_p.P1036S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1036	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATACCTTTTTCCCGTGGCTGC	0.498000													17	46					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151791477	151791477	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:151791477C>T	ENST00000434507.1	+	4	602	c.165C>T	c.(163-165)ttC>ttT	p.F55F	GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Silent_p.F55F|GALNT11_ENST00000415421.1_Silent_p.F55F|GALNT11_ENST00000320311.2_Silent_p.F55F|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000422997.2_Silent_p.F55F			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	55						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAAAAAAATTCTATCCCCGTT	0.463000													39	65					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178581184	178581184	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178581184C>T	ENST00000251582.7	-	8	1349	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.M416I	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	416	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTCGTGCTCCATGCCCAGCC	0.692000													3	6					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434518	79434518	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:79434518G>A	ENST00000554719.1	+	11	2343	c.1852G>A	c.(1852-1854)Gat>Aat	p.D618N	NRXN3_ENST00000335750.5_Missense_Mutation_p.D618N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	222					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTTCCAGGTGATCTCTATAT	0.448000													15	31					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228521296	228521296	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:228521296C>T	ENST00000570156.2	+	70	18814	c.18740C>T	c.(18739-18741)cCc>cTc	p.P6247L	OBSCN_ENST00000366707.4_Missense_Mutation_p.P2924L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5290L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5290L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P2409L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5290					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TACCCTGCTCCCAGATTATAC	0.602000													3	7					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843413	123843413	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:123843413G>A	ENST00000369005.1	+	4	1738	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.V466V|TACC2_ENST00000453444.2_Silent_p.V466V|TACC2_ENST00000515273.1_Silent_p.V466V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.V466V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	466						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGGTTGGTGGGACTGGAGA	0.572000													40	87					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487660	56487660	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:56487660C>T	ENST00000267101.3	+	13	2033	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	ERBB3_ENST00000415288.2_Silent_p.T472T|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	531					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTGTGTGACCCACTGCAACT	0.557000													37	74					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66473159	66473159	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:66473159C>T	ENST00000533211.1	-	14	2134	c.1803G>A	c.(1801-1803)ggG>ggA	p.G601G	SPTBN2_ENST00000309996.2_Silent_p.G601G|SPTBN2_ENST00000529997.1_Silent_p.G601G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	601					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTCACCTTTCCCTGGGTTGC	0.647000													9	23					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672717	10672717	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:10672717G>A	ENST00000302079.6	-	50	7786	c.7787C>T	c.(7786-7788)cCc>cTc	p.P2596L	PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2684L|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P451L|PIEZO2_ENST00000538948.1_Missense_Mutation_p.P616L|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2659L			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2659						integral to membrane	ion channel activity										CAGACTTGGGGGACTGACTTT	0.458000													26	77					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738772	41738772	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:41738772G>A	ENST00000373018.3	-	7	1315	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	FRS3_ENST00000259748.2_Missense_Mutation_p.P355L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	355					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATTGGAAGAGGGTGTGAGCCC	0.652000													54	51					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219483457	219483457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:219483457C>T	ENST00000450993.2	+	4	676	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	PLCD4_ENST00000432688.1_Nonsense_Mutation_p.Q113*|PLCD4_ENST00000417849.1_Nonsense_Mutation_p.Q113*	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	113	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGAGGAGGCCCAGATATGGAT	0.612000													12	4					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56465911	56465911	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:56465911C>T	ENST00000291971.3	+	3	558	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	NLRP8_ENST00000590542.1_Missense_Mutation_p.P163S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	163						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAGTTTTTCCCCATATGGGA	0.438000													21	50					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73555367	73555367	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:73555367C>T	ENST00000392550.3	+	6	523	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	LLGL2_ENST00000577200.1_Silent_p.L136L|LLGL2_ENST00000375227.4_Silent_p.L136L|LLGL2_ENST00000578363.1_Silent_p.L136L|LLGL2_ENST00000167462.5_Silent_p.L136L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	136					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACCGTGGTCCTGCCACATTC	0.637000													10	35					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849767	54849767	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54849767G>A	ENST00000291759.4	-	3	311	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	85	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCATGGATGGGATGGAGAGTT	0.537000													25	68					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14814336	14814336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:14814336G>A	ENST00000253697.3	+	17	3121	c.2669G>A	c.(2668-2670)aGg>aAg	p.R890K	C3orf20_ENST00000412910.1_Missense_Mutation_p.R768K|C3orf20_ENST00000435614.1_Missense_Mutation_p.R768K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	890						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCTCTCAGCAGGGACAGCAAG	0.592000													7	33					0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874201	31874201	+	Missense_Mutation	SNP	C	C	T	rs73186218	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:31874201C>T	ENST00000334151.2	-	1	234	c.208G>A	c.(208-210)Gga>Aga	p.G70R		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	70						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CAATAAAATCCAGAGAATCCA	0.502000													24	59					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72937809	72937809	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72937809C>T	ENST00000328801.4	+	2	395	c.395C>T	c.(394-396)tCc>tTc	p.S132F		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	132						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGGTCCTCTCCCTGCTTTGG	0.627000													17	51					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95903265	95903265	+	Silent	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:95903265C>G	ENST00000334258.5	-	14	2444	c.2430G>C	c.(2428-2430)ctG>ctC	p.L810L	SYNE3_ENST00000554873.1_Silent_p.L567L|SYNE3_ENST00000557275.1_Silent_p.L805L	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CAAAGTTCCTCAGGAGCTGGG	0.502000													20	67					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087554	27087554	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:27087554C>T	ENST00000324856.7	+	5	2499	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	ARID1A_ENST00000374152.2_Missense_Mutation_p.R327C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R710C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	710					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCTCAGTCTCGCTCAGGACC	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								14	37					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80071573	80071573	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:80071573G>A	ENST00000265081.6	+	16	2394	c.2314G>A	c.(2314-2316)Gga>Aga	p.G772R		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	772					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GGTAAAGGTTGGAAGGTAGGT	0.303000								Mismatch excision repair (MMR)					4	16					0	0	1	0	0
RPS4Y1	6192	broad.mit.edu	37	Y	2712265	2712265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrY:2712265C>T	ENST00000250784.8	+	3	368	c.229C>T	c.(229-231)Cga>Tga	p.R77*		NM_001008.3	NP_000999.1			ribosomal protein S4, Y-linked 1											kidney(1)|lung(2)	3						TGGCAAGGTTCGAGTGGATGT	0.423000													43	26					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624724	11624724	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11624724G>A	ENST00000270517.7	-	3	544	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.P137S|ECSIT_ENST00000592312.1_Missense_Mutation_p.P21S|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.P137S	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	137					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACCTCCTTGGGGAAGATGTTG	0.592000													12	33					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877630	130877630	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:130877630G>A	ENST00000357462.5	-	1	552	c.459C>T	c.(457-459)ccC>ccT	p.P153P	POTEF_ENST00000409914.2_Silent_p.P153P|POTEF_ENST00000360967.5_Silent_p.P153P|POTEF_ENST00000361163.4_Silent_p.P153P			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	153						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GATCCTTTCTGGGGACTTTAC	0.582000													4	82					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5433822	5433822	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:5433822G>A	ENST00000345221.3	-	12	4053	c.3499C>T	c.(3499-3501)Cct>Tct	p.P1167S	NLRP1_ENST00000354411.3_Missense_Mutation_p.P1137S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.P1167S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P1171S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1167S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1137S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1167					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACAAAGTGAGGGAGGTGCACA	0.547000													5	36					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4714878	4714878	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:4714878G>A	ENST00000354582.6	+	21	2613	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	ITPR1_ENST00000423119.2_Missense_Mutation_p.E755K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E755K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E740K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E740K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E740K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	755					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCCATCAACGAAATCTCAGG	0.542000													6	20					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990578	70990578	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:70990578G>A	ENST00000256389.3	-	2	1291	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	299	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGTCTTTTATGAAAAGATGTG	0.353000													16	43					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677635	100677635	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100677635G>A	ENST00000306151.4	+	3	3002	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	980	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E980K(1)		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)					GACTCCTAGTGAAGGAACGAC	0.512000													88	193					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934626	28934626	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:28934626C>T	ENST00000257192.4	+	15	2679	c.2467C>T	c.(2467-2469)Cct>Tct	p.P823S	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.P182S|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	823					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)			TGTACTGCATCCTAAGCCTAT	0.517000													36	93					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428772	120428772	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:120428772C>T	ENST00000222747.3	-	8	1399	c.792G>A	c.(790-792)aaG>aaA	p.K264K	TSPAN12_ENST00000415871.1_Silent_p.K264K	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	264					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AGTTGTCATTCTTCAAGGACA	0.458000													28	66					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153924289	153924289	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:153924289C>T	ENST00000369575.3	-	8	1461	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	GAB3_ENST00000424127.2_Missense_Mutation_p.R478Q|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	477										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAAGCTGGTTCGACTGCTAAG	0.418000													3	5					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298427	107298427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:107298427G>A	ENST00000374781.2	-	1	710	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATATTGAGGGATATATCAGC	0.393000													18	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634823	179634823	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179634823C>A	ENST00000589042.1	-	36	8829	c.8605G>T	c.(8605-8607)Ggg>Tgg	p.G2869W	TTN_ENST00000342175.6_Missense_Mutation_p.G2823W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2869W|TTN_ENST00000591111.1_Missense_Mutation_p.G2869W|TTN_ENST00000460472.2_Missense_Mutation_p.G2823W|TTN_ENST00000360870.5_Missense_Mutation_p.G2869W|TTN_ENST00000359218.5_Missense_Mutation_p.G2823W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2607							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)			TCCAATTGCCCGACCACAGCT	0.483000													4	117					1	1	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105406934	105406934	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:105406934G>A	ENST00000333244.5	-	7	14973	c.14854C>T	c.(14854-14856)Ccc>Tcc	p.P4952S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4952						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTTTCAAGGGACTCCCTTTC	0.537000													17	25					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220247899	220247899	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220247899G>A	ENST00000273075.4	-	10	1110	c.890C>T	c.(889-891)gCc>gTc	p.A297V	DNPEP_ENST00000523282.1_Missense_Mutation_p.A305V|DNPEP_ENST00000373972.1_Missense_Mutation_p.A222V	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	287					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	AGGCTCTGTGGCCAGGGAGCC	0.577000													32	24					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629871	9629871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:9629871C>T	ENST00000382492.2	-	1	592	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	92					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCCAAAGTTCCAATTCATTT	0.413000													6	19					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111080842	111080842	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:111080842G>A	ENST00000360467.5	+	7	695	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	130					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCCAGGGGAAGGCCGGGC	0.622000													24	58					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761629	96761629	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:96761629G>A	ENST00000295266.4	+	1	391	c.328G>A	c.(328-330)Gat>Aat	p.D110N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	110					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AAACCCCTCGGATCACGTCAT	0.522000													29	73					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5274520	5274520	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5274520G>A	ENST00000380259.2	-	8	1671	c.431C>T	c.(430-432)tCc>tTc	p.S144F	HBG2_ENST00000336906.4_Missense_Mutation_p.S144F|HBG2_ENST00000380252.1_Missense_Mutation_p.S134F					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTATCTGGAGGACAGGGC	0.483000													30	43					0	0	1	0	0
TRAJ23	28732	broad.mit.edu	37	14	22989409	22989409	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22989409G>A	ENST00000390514.1	+	0	16																											TATAACCAGGGAGGAAAGCTT	0.428000													29	62					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179268988	179268988	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:179268988G>A	ENST00000518219.1	-	5	379	c.368C>T	c.(367-369)aCa>aTa	p.T123I	C5orf45_ENST00000376931.2_Missense_Mutation_p.T68I|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000403396.2_Missense_Mutation_p.T165I|C5orf45_ENST00000518235.1_Missense_Mutation_p.T123I|C5orf45_ENST00000523267.1_Intron|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000292586.6_Missense_Mutation_p.T123I|C5orf45_ENST00000520698.1_Missense_Mutation_p.T68I			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	123										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						ACACACTCCTGTTCCTTCCAG	0.502000													80	209					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594265	140594265	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140594265G>A	ENST00000341948.4	+	1	757	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		190	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGATGGCAGGAAATACCCAG	0.512000													6	35					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542946	133542946	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:133542946C>T	ENST00000409261.1	-	14	1811	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D480N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	480							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAAGGGTCATCGTCCGCATCA	0.517000													61	40					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88913278	88913278	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:88913278G>A	ENST00000303236.3	-	2	703	c.402C>T	c.(400-402)tcC>tcT	p.S134S	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	134					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCAAGGAACCGGATCCCACAT	0.378000													62	166					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386648	89386648	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:89386648C>T	ENST00000439576.2	+	6	1194	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	ACAN_ENST00000352105.7_Missense_Mutation_p.R274W|ACAN_ENST00000561243.1_Missense_Mutation_p.R274W|ACAN_ENST00000559004.1_Missense_Mutation_p.R274W|ACAN_ENST00000558207.1_Missense_Mutation_p.R274W	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	274					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAATGAGTGCCGGCGGCTGGG	0.637000													10	13					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111966	197111966	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:197111966A>T	ENST00000367409.4	-	3	1672	c.1416T>A	c.(1414-1416)ttT>ttA	p.F472L	ASPM_ENST00000294732.7_Missense_Mutation_p.F472L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	472					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAACTGCAGAAAATTTAGGAT	0.348000													35	68					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846886	123846886	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:123846886C>T	ENST00000369005.1	+	4	5211	c.4871C>T	c.(4870-4872)cCa>cTa	p.P1624L	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.P1624L|TACC2_ENST00000453444.2_Missense_Mutation_p.P1624L|TACC2_ENST00000515273.1_Missense_Mutation_p.P1624L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P1624L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1624						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGGGGTTCCAGGACATGTG	0.572000													9	43					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390257	150390257	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150390257T>A	ENST00000223293.5	+	3	977	c.883T>A	c.(883-885)Tgc>Agc	p.C295S		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	295						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACAGCATGTGCAATTTGTT	0.318000													5	22					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43236939	43236939	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:43236939G>A	ENST00000327495.5	-	3	890	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	PSG3_ENST00000595140.1_Missense_Mutation_p.L236F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	236					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTCACGGAGGAGATTCAGG	0.537000													68	197					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293494	120293494	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:120293494G>A	ENST00000369406.3	-	9	1507	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	HMGCS2_ENST00000544913.2_Silent_p.F444F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	486					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AAGTACCTGGGAAAAGGCTGT	0.498000													74	160					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102446	155102446	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:155102446C>T	ENST00000392825.3	+	7	1375	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P270S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	270						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTATCCTGTTCCCCAAAGAGA	0.388000													23	12					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473645	31473645	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31473645G>A	ENST00000252229.6	+	2	401	c.322G>A	c.(322-324)Gga>Aga	p.G108R	MICB_ENST00000538442.1_Missense_Mutation_p.G76R|MICB_ENST00000399150.3_Missense_Mutation_p.G108R	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	108					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GGACCAGAAAGGAGGTGAGAG	0.562000													12	3					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55526073	55526073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:55526073C>T	ENST00000310373.3	-	8	1267	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	32					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)		TTCCTTCCATCCCAAATGGAG	0.577000													25	51					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129823041	129823041	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:129823041C>T	ENST00000500074.2	-	0	356																											TCTTGATGGCCCATTCTGCAA	0.607000													5	15					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353223	42353223	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:42353223G>A	ENST00000269945.3	+	6	705	c.654G>A	c.(652-654)caG>caA	p.Q218Q	DMRTC2_ENST00000596827.1_Silent_p.Q218Q	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	218	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCTCCCTCCAGCTGCCCACTC	0.572000													41	106					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009233	120009233	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:120009233C>T	ENST00000371311.3	-	1	546	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	98	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ttcccctcttcctcctcctcc	0.697000													9	6					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101961	69101961	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:69101961C>T	ENST00000332644.5	-	3	309	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	50	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATATGAAAATCACCTTGATAA	0.328000													5	10					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351962	156351962	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:156351962G>A	ENST00000400992.2	+	7	1354	c.986G>A	c.(985-987)gGa>gAa	p.G329E	RHBG_ENST00000368249.1_Missense_Mutation_p.G361E|RHBG_ENST00000255013.3_Missense_Mutation_p.G292E|RHBG_ENST00000537040.1_Missense_Mutation_p.D194N|RHBG_ENST00000368246.2_Missense_Mutation_p.G361E|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000451864.2_Missense_Mutation_p.G283E			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	361					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTGTGGCTGGACTTGCCACC	0.542000													35	86					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997368	115997368	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:115997368C>T	ENST00000264363.2	-	2	1503	c.825G>A	c.(823-825)ttG>ttA	p.L275L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	275	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)		GCCAAAAGTTCAAGTTGTTGC	0.453000													25	76					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118523964	118523964	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:118523964G>A	ENST00000336338.5	-	43	5998	c.5933C>T	c.(5932-5934)cCa>cTa	p.P1978L	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1978						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGAAATCTCTGGTTTTGGAAG	0.348000													21	43					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53042002	53042002	+	Silent	SNP	G	G	A	rs138032518	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:53042002G>A	ENST00000309680.3	-	5	1098	c.1077C>T	c.(1075-1077)atC>atT	p.I359I		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	359	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCTCTGGGCGATCTCCTCAT	0.567000													31	101					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41483784	41483784	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:41483784C>T	ENST00000314992.5	-	8	737		c.e8-1		EXD1_ENST00000458580.2_Splice_Site	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CATCTGCTACCTGTGGTATTT	0.378000													7	32					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713789	10713789	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:10713789C>T	ENST00000377022.3	-	11	2642	c.2325G>A	c.(2323-2325)ctG>ctA	p.L775L	CASZ1_ENST00000344008.5_Silent_p.L775L|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCTGGGGCAGCAGCCCCGAGA	0.701000													16	35					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75687068	75687068	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:75687068C>T	ENST00000393284.3	-	12	1086	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.R312Q|CAPS2_ENST00000409445.3_Missense_Mutation_p.R394Q|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	394							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATTTGTGATTCGGAGTTTAAG	0.318000													6	37					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579531	43579531	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:43579531A>C	ENST00000406487.1	-	3	782	c.684T>G	c.(682-684)agT>agG	p.S228R		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	228	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGACTGGGTCACTGCGGCTGG	0.527000													73	231					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222183	29222183	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:29222183G>A	ENST00000379558.4	+	4	627	c.276G>A	c.(274-276)agG>agA	p.R92R	FAM179A_ENST00000403861.2_Silent_p.R92R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	92							binding	p.R92S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCACCCCAGGAACCTCAGGG	0.632000													7	21					0	0	1	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54483769	54483769	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:54483769G>A	ENST00000371360.1	-	1	34	c.17C>T	c.(16-18)cCc>cTc	p.P6L	LDLRAD1_ENST00000545928.1_Missense_Mutation_p.P6L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.P6L|LDLRAD1_ENST00000420619.1_Silent_p.P27P	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	6						integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						TCTCACCTGGGGGAAGACCTT	0.582000													11	35					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58946388	58946388	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:58946388G>A	ENST00000254166.3	-	3	823	c.423C>T	c.(421-423)ccC>ccT	p.P141P		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	141						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CACATGTGTAGGGTTTCTCCT	0.498000													32	71					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158093791	158093791	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:158093791C>T	ENST00000359775.5	+	9	1993	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Intron			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	368						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCACCAAATTCGTTTTGCAGG	0.667000													15	19					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875936	16875936	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:16875936C>T	ENST00000524140.2	+	10	2761	c.2343C>T	c.(2341-2343)tcC>tcT	p.S781S	NWD1_ENST00000523826.1_Silent_p.S575S|NWD1_ENST00000379808.3_Silent_p.S781S|NWD1_ENST00000552788.1_Silent_p.S781S|NWD1_ENST00000339803.6_Silent_p.S646S|NWD1_ENST00000549814.1_Silent_p.S781S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	781							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTGGACTCCCCTGAGGTTG	0.627000													10	38					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225360656	225360656	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:225360656C>T	ENST00000264414.4	-	13	2073	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	CUL3_ENST00000409777.1_Missense_Mutation_p.G555S|CUL3_ENST00000344951.4_Missense_Mutation_p.G513S|CUL3_ENST00000409096.1_Missense_Mutation_p.G555S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	579					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACTTGTGCACCTCCAACACCA	0.333000													17	35					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902316	23902316	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:23902316G>A	ENST00000355349.3	-	4	484	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	108	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGCCGTAGCGATCCTTGAGG	0.572000													21	32					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356074	201356074	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:201356074C>T	ENST00000391967.2	-	3	716	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	LAD1_ENST00000367313.3_Missense_Mutation_p.E153K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	139						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGTGGGATTTCCAGTTCCTTC	0.632000													12	57					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303843	151303843	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:151303843G>A	ENST00000370323.4	-	4	566	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P84S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	84										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCACTCTGGGGAGGATTTGGT	0.547000													75	60					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816134	101816134	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:101816134C>T	ENST00000506729.1	-	2	534	c.363G>A	c.(361-363)gtG>gtA	p.V121V	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Silent_p.V121V|SLCO6A1_ENST00000379807.3_Silent_p.V121V|SLCO6A1_ENST00000379810.1_Silent_p.V121V|SLCO6A1_ENST00000389019.3_Silent_p.V121V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	121						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GACCAAACACCACACCTAAAA	0.303000													23	56					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59999827	59999827	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:59999827G>A	ENST00000468189.1	-	6	525	c.155C>T	c.(154-156)cCt>cTt	p.P52L	FHIT_ENST00000476844.1_Missense_Mutation_p.P52L|FHIT_ENST00000492590.1_Missense_Mutation_p.P52L|FHIT_ENST00000341848.4_Missense_Mutation_p.P52L|FHIT_ENST00000466788.1_Intron			P49789	FHIT_HUMAN	fragile histidine triad	52	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CACTTCATCAGGACGCAGGTC	0.547000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				10	51					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068965	9068965	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9068965G>A	ENST00000397910.4	-	3	18684	c.18481C>T	c.(18481-18483)Cct>Tct	p.P6161S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6163	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						ACCCCAGAAGGACCTGTTTGT	0.493000													12	39					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184401	130184401	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:130184401G>A	ENST00000422113.2	-	2	1248	c.922C>T	c.(922-924)Cct>Tct	p.P308S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	308						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGAAACAGGAAAAGTCAGC	0.507000													13	43					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155206484	155206484	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:155206484C>T	ENST00000460012.1	-	20	2771	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	PLCH1_ENST00000447496.2_Missense_Mutation_p.G823E|PLCH1_ENST00000414191.1_Missense_Mutation_p.G805E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G823E|PLCH1_ENST00000494598.1_Missense_Mutation_p.G823E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G805E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	823	C2.				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)			AGTTCTTTGTCCAACAAAGTC	0.443000													13	22					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997540	31997540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31997540C>T	ENST00000435363.2	+	29	3958	c.3874C>T	c.(3874-3876)Cag>Tag	p.Q1292*	C4B_ENST00000425700.2_Nonsense_Mutation_p.Q1292*	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1292					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GCTCACCCGTCAGGGCAGCTT	0.647000													31	127					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233490611	233490611	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:233490611C>T	ENST00000366624.3	+	4	1426	c.1165C>T	c.(1165-1167)Cca>Tca	p.P389S	MLK4_ENST00000366623.3_Missense_Mutation_p.P389S	NM_032435.2	NP_115811.2																					TCATATTCGTCCATCGTTTGC	0.388000													21	54					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120959300	120959300	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:120959300G>T	ENST00000273666.6	+	14	1617	c.1346G>T	c.(1345-1347)aGt>aTt	p.S449I	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S449I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S449I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S449I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S449I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	449					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGGCCAATCAGTGGAGGAGCT	0.299000													9	22					1.76689e-08	1.78905e-08	1	1	0
ZNF285	26974	broad.mit.edu	37	19	44891001	44891001	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44891001G>A	ENST00000330997.4	-	4	1470	c.1406C>T	c.(1405-1407)tCt>tTt	p.S469F	ZNF285_ENST00000591679.1_Missense_Mutation_p.S476F|ZNF285_ENST00000544719.2_Missense_Mutation_p.S469F|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTGAAGAACAGAGCTATACGC	0.413000													14	62					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587027	42587027	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:42587027A>T	ENST00000289957.2	+	5	705	c.577A>T	c.(577-579)Aaa>Taa	p.K193*		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	193					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTCGACAGAAAAGACTTCTT	0.458000													35	49					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867198	107867198	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:107867198G>A	ENST00000370067.1	+	3	1168	c.541G>A	c.(541-543)Gac>Aac	p.D181N	NTNG1_ENST00000370061.3_Missense_Mutation_p.D181N|NTNG1_ENST00000370065.1_Missense_Mutation_p.D181N|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Missense_Mutation_p.D181N|NTNG1_ENST00000370068.1_Missense_Mutation_p.D181N|NTNG1_ENST00000370070.2_Missense_Mutation_p.D181N|NTNG1_ENST00000370071.2_Missense_Mutation_p.D181N|NTNG1_ENST00000370072.3_Missense_Mutation_p.D181N|NTNG1_ENST00000370073.2_Missense_Mutation_p.D181N|NTNG1_ENST00000370074.4_Missense_Mutation_p.D181N|NTNG1_ENST00000542803.1_Missense_Mutation_p.D181N			Q9Y2I2	NTNG1_HUMAN	netrin G1	181	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTATGCCACAGACTGCTTAGA	0.428000													9	40					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102604026	102604026	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:102604026C>T	ENST00000393772.2	-	8	1104	c.678G>A	c.(676-678)ttG>ttA	p.L226L	FBXL13_ENST00000313221.4_Silent_p.L226L|FBXL13_ENST00000379306.3_Silent_p.L226L|FBXL13_ENST00000455112.2_Silent_p.L226L|FBXL13_ENST00000436908.1_Silent_p.L226L|FBXL13_ENST00000379308.3_Silent_p.L226L|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Silent_p.L226L|FBXL13_ENST00000379305.3_Silent_p.L226L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	226										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CACGAAAATTCAAACGCAGCA	0.328000													22	55					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428361	1428361	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:1428361G>A	ENST00000381524.3	+	13	1378	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E432K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E398K|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.E265K|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G338E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.E398K			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	398						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACCGTGAAGGAAATTACCTG	0.512000													51	144					0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103238255	103238255	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:103238255A>T	ENST00000251810.3	-	3	455	c.212T>A	c.(211-213)tTa>tAa	p.L71*	RRM2B_ENST00000395912.2_Nonsense_Mutation_p.L19*|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	71					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			ATCCTTTGATAAGTCGACCTG	0.343000								Modulation of nucleotide pools					19	33					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3664359	3664359	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3664359C>T	ENST00000263087.4	-	6	644	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	182	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		cctcctcctccttctccAGAG	0.562000													35	108					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	T	rs104894228		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:534286C>T	ENST00000417302.1	-	2	224	c.37G>A	c.(37-39)Ggt>Agt	p.G13S	HRAS_ENST00000451590.1_Missense_Mutation_p.G13S|HRAS_ENST00000397594.1_Missense_Mutation_p.G13S|HRAS_ENST00000397596.2_Missense_Mutation_p.G13S|HRAS_ENST00000311189.7_Missense_Mutation_p.G13S|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			8	27					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212586	62212586	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:62212586G>A	ENST00000519846.1	+	3	672	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CLVS1_ENST00000325897.4_Missense_Mutation_p.G67E|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	67					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTGACATTGGATTTTTACGT	0.458000													11	41					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177414	39177414	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:39177414G>A	ENST00000297668.6	-	6	901	c.828C>T	c.(826-828)ctC>ctT	p.L276L	CNTNAP3_ENST00000377659.1_Silent_p.L276L|CNTNAP3_ENST00000358144.2_Silent_p.L188L|CNTNAP3_ENST00000377656.2_Silent_p.L276L|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Silent_p.L276L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	276	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGAGCTCGATGAGGACGGAAT	0.517000													18	38					0	0	1	0	0
MSANTD3	91283	broad.mit.edu	37	9	103212888	103212888	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:103212888C>T	ENST00000395067.2	+	3	739	c.468C>T	c.(466-468)ttC>ttT	p.F156F	TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron|MSANTD3_ENST00000489377.1_3'UTR	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						AGAAAGAGTTCATACATTTTC	0.398000													12	38					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238738022	238738022	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:238738022G>A	ENST00000316997.4	+	13	2898	c.2766G>A	c.(2764-2766)tcG>tcA	p.S922S	RBM44_ENST00000409864.1_Silent_p.S922S	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	921							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GAATTAGTTCGAATAATTTAG	0.388000													51	35					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435073	10435073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10435073C>T	ENST00000245503.5	-	22	2958	c.2574G>A	c.(2572-2574)atG>atA	p.M858I	MYH2_ENST00000397183.2_Missense_Mutation_p.M858I|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	858					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTCTTCCTTCATGGTGGCCA	0.423000													16	58					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657478	143657478	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143657478G>A	ENST00000392899.1	+	1	452	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CATGCATGGAGGGCTGTGTGC	0.557000													18	51					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654188	19654188	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:19654188C>T	ENST00000586018.1	+	7	1229	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	CILP2_ENST00000291495.4_Missense_Mutation_p.S370L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	370	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCCGTGCGCTCGGGCACTGCC	0.652000													18	35					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131682	30131682	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:30131682C>T	ENST00000376694.4	+	1	690	c.221C>T	c.(220-222)cCc>cTc	p.P74L	TRIM15_ENST00000376688.1_Missense_Mutation_p.P74L	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	74					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCCCCTGTGCCCCTGGGCCCG	0.632000													12	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9010664	9010664	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9010664G>A	ENST00000397910.4	-	38	39200	c.38997C>T	c.(38995-38997)tcC>tcT	p.S12999S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13001					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						GGCTGGGGAGGGAGGATGGAG	0.488000													6	26					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42461933	42461933	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:42461933C>T	ENST00000262407.5	-	8	851	c.820G>A	c.(820-822)Gag>Aag	p.E274K	ITGA2B_ENST00000377068.3_5'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.E274K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	274					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCGTCGAACTCGCCCACGGCC	0.582000													14	47					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927110	31927110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:31927110C>T	ENST00000300870.10	+	4	1749	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	514					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCGGAAAATTCATACTGGAGA	0.358000													10	38					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769628	31769628	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:31769628G>A	ENST00000240587.4	-	2	1398	c.1071C>T	c.(1069-1071)aaC>aaT	p.N357N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	357					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGATGTAAGGGTTGGAGTTCT	0.562000													52	164					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000													7	12					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038231	43038231	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:43038231G>A	ENST00000267890.6	-	15	3605	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1166	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGATGGTGAGGAACTAGACGT	0.582000													20	72					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135756	55135756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:55135756C>T	ENST00000314706.3	+	1	397	c.397C>T	c.(397-399)Cat>Tat	p.H133Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTTATGGATCATTTATTTGC	0.408000													44	109					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396955	38396955	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:38396955G>A	ENST00000377698.3	+	2	1363	c.1210G>A	c.(1210-1212)Ggt>Agt	p.G404S		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	404					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TACTGTCTTTGGTGGCGTGCA	0.547000													11	46					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635733	141635733	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:141635733C>T	ENST00000546910.1	-	5	422	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CLEC5A_ENST00000438351.1_Missense_Mutation_p.E53K|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E53K	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	76					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGATAAAATTCCCAGTCTTTG	0.398000													18	40					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242214	5242214	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:5242214C>T	ENST00000274181.7	+	17	2710	c.2572C>T	c.(2572-2574)Cct>Tct	p.P858S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	858	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATACTCCATGCCTCGCTTGGG	0.547000													24	71					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137717682	137717682	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:137717682G>A	ENST00000315930.6	-	4	1198	c.537C>T	c.(535-537)atC>atT	p.I179I	FGF13_ENST00000441825.2_Silent_p.I160I|FGF13_ENST00000370603.3_Silent_p.I189I|FGF13_ENST00000305414.4_Silent_p.I126I|FGF13_ENST00000541469.1_Silent_p.I133I	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	179					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCCTTTCATGATCTCTCCTT	0.413000													27	18					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	21					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2928375	2928375	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:2928375G>A	ENST00000355842.3	+	17	2824	c.1961G>A	c.(1960-1962)gGa>gAa	p.G654E	ADD1_ENST00000503455.2_Missense_Mutation_p.G655E|ADD1_ENST00000398123.2_Missense_Mutation_p.G654E|ADD1_ENST00000398125.1_Missense_Mutation_p.G654E|ADD1_ENST00000398129.1_Intron|ADD1_ENST00000264758.7_Intron|ADD1_ENST00000513328.2_Missense_Mutation_p.G624E|ADD1_ENST00000446856.1_Intron			P35611	ADDA_HUMAN	adducin 1 (alpha)	0					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGGAGACGGATGCGCTAGA	0.522000													5	18					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823959	53823959	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:53823959T>C	ENST00000257863.4	+	10	1398	c.1318T>C	c.(1318-1320)Tat>Cat	p.Y440H	AMHR2_ENST00000550311.1_Silent_p.P438P|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	440	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAACTGGCCTATGAGGCAGA	0.577000													66	163					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623549	143623549	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:143623549C>T	ENST00000517894.1	+	28	4848	c.3954C>T	c.(3952-3954)tcC>tcT	p.S1318S	BAI1_ENST00000323289.5_Silent_p.S1318S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1318					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAAGTCCTCCTTCGTCGGTG	0.657000													22	58					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140201409	140201409	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:140201409G>A	ENST00000340951.4	-	22	2819	c.2624C>T	c.(2623-2625)cCc>cTc	p.P875L	EXD3_ENST00000342129.4_Missense_Mutation_p.P513L	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	875					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TCCTCAGAAGGGACTGCTGGC	0.652000													8	24					0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49494192	49494192	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:49494192G>A	ENST00000267102.8	-	15	1561	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	LMBR1L_ENST00000395141.4_Missense_Mutation_p.P402S|LMBR1L_ENST00000547382.1_Missense_Mutation_p.P387S	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	407					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGAAGACAGGAAGTGCTGAG	0.463000													20	87					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327809	52327809	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:52327809G>A	ENST00000339223.4	+	2	987	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR3_ENST00000595991.1_Missense_Mutation_p.E270K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	270					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTGGCTCAAAGAGATGTTGTT	0.438000													27	42					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46801057	46801057	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:46801057G>A	ENST00000230588.4	+	11	1400	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	464	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATTCGGAGGGATATGGTTTT	0.493000													20	93					0	0	1	0	0
GLOD5	392465	broad.mit.edu	37	X	48624362	48624362	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:48624362G>A	ENST00000303227.6	+	2	227	c.186G>A	c.(184-186)gaG>gaA	p.E62E	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						TGGGCATGGAGGTCATGACTT	0.418000													4	0					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283720	40283720	+	Silent	SNP	C	C	T	rs143952812		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:40283720C>T	ENST00000325157.6	-	2	283	c.33G>A	c.(31-33)gtG>gtA	p.V11V		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	11	ENTH.							p.V11V(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGTAATTTTTCACAAAGTTTT	0.398000													9	39					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811678	32811678	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:32811678C>T	ENST00000380250.3	+	44	6469	c.5973C>T	c.(5971-5973)atC>atT	p.I1991I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGGTGTCATCGACCGATCCT	0.542000													10	20					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158745789	158745789	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:158745789G>A	ENST00000231228.2	-	6	1265	c.810C>T	c.(808-810)tcC>tcT	p.S270S		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	270	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAATGTCAGGGAGAAGTAGG	0.507000													18	47					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3726094	3726094	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:3726094G>A	ENST00000252505.3	+	4	283	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	60							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGAATATACGGAGTTTGGGAA	0.468000										HNSCC(21;0.051)			21	35					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281769	71281769	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:71281769G>A	ENST00000335793.3	-	2	1265	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.P221S			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	291					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCGGGGCTGGGGGCCGCTGCT	0.716000													23	15					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54575842	54575842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:54575842C>T	ENST00000064571.2	-	2	1653	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	118	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			ACTGTAAATTCCTTTTCTTGG	0.348000													22	55					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133627	22133627	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22133627G>A	ENST00000408935.1	+	1	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGCCTGTGCCGAGATCTTTCT	0.453000													55	134					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15457302	15457302	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:15457302G>T	ENST00000443029.1	-	4	748	c.508C>A	c.(508-510)Ctt>Att	p.L170I	METTL6_ENST00000450816.2_Missense_Mutation_p.L125I|METTL6_ENST00000383789.5_Missense_Mutation_p.L170I|METTL6_ENST00000383790.3_Missense_Mutation_p.L170I			Q8TCB7	METL6_HUMAN	methyltransferase like 6	170							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TGTAAGACAAGGTGCATCTTA	0.428000													24	59					2.79863e-10	2.83966e-10	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89911178	89911178	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:89911178C>T	ENST00000534061.1	+	16	1981	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	NAALAD2_ENST00000321955.4_Missense_Mutation_p.P551L|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	584					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAAATCATTCCTTTTAATATT	0.338000													20	46					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555336	44555336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:44555336G>A	ENST00000330682.2	-	1	1113	c.878C>T	c.(877-879)tCc>tTc	p.S293F	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTTTGCCTGGGAGGTCATGGC	0.612000													16	1029					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65119559	65119559	+	Silent	SNP	C	C	T	rs143213867		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:65119559C>T	ENST00000371073.2	+	11	1659	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	CACHD1_ENST00000290039.5_Silent_p.I502I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	553					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGCAAAATATCCTAAGGTAAG	0.373000													13	56					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	599121	599121	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:599121G>A	ENST00000230449.4	-	8	982	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	283					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGGTTGAAAAGAAACTTAAAT	0.318000													29	185					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87175328	87175328	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:87175328G>A	ENST00000265724.3	-	16	2155	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R516W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	580	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATGGTGGTCCGACCTTTTCTG	0.383000													19	43					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1042114	1042114	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:1042114C>T	ENST00000263094.6	+	5	585	c.354C>T	c.(352-354)gcC>gcT	p.A118A	ABCA7_ENST00000433129.1_Silent_p.A118A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	118					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCAGTGCCCACAGGACGC	0.721000													4	16					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953520	8953520	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:8953520G>A	ENST00000595891.1	+	3	397	c.166G>A	c.(166-168)Gag>Aag	p.E56K	MBD3L1_ENST00000305625.2_Missense_Mutation_p.E56K			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	56	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CCATCAATGGGAGGAGAGCTT	0.512000													22	51					0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58806109	58806109	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:58806109C>T	ENST00000196548.5	+	4	1066	c.935C>T	c.(934-936)cCc>cTc	p.P312L	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GGAGACAAGCCCTACAAGTGT	0.532000													13	39					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813815	106813815	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:106813815C>T	ENST00000407775.2	+	8	1755	c.1505C>T	c.(1504-1506)tCt>tTt	p.S502F	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S370F|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S233F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S370F|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	502					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTCAGTTTTCTTTCCCCCAA	0.488000													33	133					0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81371713	81371713	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:81371713G>A	ENST00000398636.3	+	3	270	c.132G>A	c.(130-132)agG>agA	p.R44R	SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_Silent_p.R44R|SFTPA1_ENST00000372308.3_Silent_p.R44R|SFTPA1_ENST00000419470.2_Silent_p.R59R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	44	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGCCAGGCAGGGACGGGAGAG	0.617000													17	49					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53013890	53013890	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:53013890C>T	ENST00000421239.2	+	6	500	c.256C>T	c.(256-258)Cac>Tac	p.H86Y		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGAAGTGATCCACACAGGGAT	0.368000													25	79					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154520815	154520815	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:154520815C>T	ENST00000265198.4	-	10	1049	c.894G>A	c.(892-894)aaG>aaA	p.K298K	IPCEF1_ENST00000367220.4_Silent_p.K299K|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Silent_p.K270K|IPCEF1_ENST00000422970.2_Silent_p.K299K	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGTCCATGATCTTTGATCCAG	0.323000													10	50					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263565	248263565	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248263565C>T	ENST00000366478.2	+	3	1225	c.888C>T	c.(886-888)gtC>gtT	p.V296V	OR2L13_ENST00000358120.2_Silent_p.V296V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATAAGGAAGTCCTGGGGGCTA	0.473000													14	45					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666100	30666100	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:30666100C>T	ENST00000542965.2	+	7	1265	c.809C>T	c.(808-810)aCc>aTc	p.T270I	PRR14_ENST00000300835.4_Missense_Mutation_p.T270I			Q9BWN1	PRR14_HUMAN	proline rich 14	270	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCAACAAAACCCCACAGCCC	0.642000													6	16					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80633149	80633149	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:80633149C>T	ENST00000458043.2	+	10	961	c.955C>T	c.(955-957)Cct>Tct	p.P319S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P319S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGCAGTTTCCTTTTCTGAG	0.353000													31	73					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93598148	93598148	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:93598148G>A	ENST00000394236.3	-	13	1819	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	PROS1_ENST00000407433.1_Silent_p.S370S	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	501	Laminin G-like 2.		S -> A (in PROS1D).|S -> P (variant Heerlen; could be associated with PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTCAGCACTGGATACATTAT	0.398000													26	91					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159998559	159998559	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:159998559G>A	ENST00000326448.7	-	15	1992	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	IFT80_ENST00000483465.1_Silent_p.I383I|RP11-432B6.3_ENST00000483754.1_Silent_p.I691I|IFT80_ENST00000496589.1_Silent_p.I383I	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	520						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCCACAAAGGATATTGCATG	0.318000													9	26					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107923973	107923973	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:107923973G>A	ENST00000328300.6	+	45	4251	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1330E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1330	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTGTTCCAGGATTCCCAGGT	0.408000									Alport syndrome with Diffuse Leiomyomatosis				20	14					0	0	1	0	0
ZNF620	253639	broad.mit.edu	37	3	40557619	40557619	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:40557619C>G	ENST00000314529.6	+	5	683	c.534C>G	c.(532-534)agC>agG	p.S178R	ZNF620_ENST00000418905.1_Missense_Mutation_p.S64R	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AAAATATTAGCGTCAGCACAC	0.408000													3	22					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114389010	114389010	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:114389010G>A	ENST00000343508.3	-	2	185	c.15C>T	c.(13-15)ttC>ttT	p.F5F	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000352409.3_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	44						integral to membrane|plasma membrane		p.F5L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAGCAAAGGAACCAACTCC	0.542000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	37					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21119346	21119346	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:21119346T>A	ENST00000269228.5	-	19	3438	c.2884A>T	c.(2884-2886)Atc>Ttc	p.I962F	NPC1_ENST00000412552.2_Missense_Mutation_p.I644F	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	962			NITDQF -> S (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGTCAGTGATATTGTCCACT	0.433000													7	22					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046579	73046579	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:73046579C>T	ENST00000604411.1	+	0	34540				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATACCTTTTTCGCTTGGGTCC	0.517000													41	25					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:123595133G>A	ENST00000340011.5	+	4	1394	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338000													23	53					0	0	1	0	0
GATSL3	652968	broad.mit.edu	37	22	30682915	30682915	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:30682915G>A	ENST00000407689.3	-	5	657	c.528C>T	c.(526-528)ccC>ccT	p.P176P	GATSL3_ENST00000459785.1_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Silent_p.P176P	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						GGCTCTGGATGGGATGCACCG	0.637000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	74					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069714	36069714	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:36069714G>A	ENST00000303965.4	-	33	5419	c.4930C>T	c.(4930-4932)Cca>Tca	p.P1644S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1644					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGCCCAAGTGGGGCTTCAGGC	0.498000													35	97					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192781	203192781	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:203192781C>T	ENST00000367229.1	-	5	356	c.322G>A	c.(322-324)Gat>Aat	p.D108N	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.D99N|CHIT1_ENST00000255427.3_Missense_Mutation_p.D89N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	108					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTACCATATCTGTGAACCTG	0.537000													17	69					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865515	6865515	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:6865515C>T	ENST00000307659.5	+	7	3861	c.3406C>T	c.(3406-3408)Ccc>Tcc	p.P1136S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1136S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1136							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGCAAATATTCCCATTCCTTC	0.438000													12	37					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:18955510G>A	ENST00000302797.3	-	1	1046	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512000													20	44					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632084	156632084	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:156632084C>T	ENST00000296518.7	+	6	976	c.767C>T	c.(766-768)tCc>tTc	p.S256F	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	256					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTGTTGTACTCCGTTCACATG	0.483000													23	68					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045742	142045742	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142045742C>T	ENST00000390392.3	+	0	381																											GCCCCAACAGCTCTCACTTAT	0.507000													34	167					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77488959	77488959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:77488959C>T	ENST00000299543.7	+	11	2617	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	CTDP1_ENST00000075430.7_Intron	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	824					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCTGACGCTCAGGACGGAGA	0.527000													98	185					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9661428	9661428	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:9661428C>T	ENST00000340305.5	+	5	881	c.872C>T	c.(871-873)gCc>gTc	p.A291V	TMEM201_ENST00000377376.4_Missense_Mutation_p.A291V|TMEM201_ENST00000340381.6_Missense_Mutation_p.A291V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	291						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGCCTGGGCCTTTGGGCAG	0.682000													27	62					0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24651099	24651099	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:24651099G>A	ENST00000341060.3	-	6	1227	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	TDP2_ENST00000545995.1_Missense_Mutation_p.L366F|TDP2_ENST00000378198.4_Missense_Mutation_p.L336F			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	336					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						AATCCAAGAAGGTCCAAACTT	0.388000								Direct reversal of damage					13	37					0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69151138	69151138	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:69151138A>T	ENST00000273258.3	+	2	429	c.325A>T	c.(325-327)Agc>Tgc	p.S109C	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	109					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CATGTTGGCGAGCTATTTCCT	0.468000													18	55					0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088624	65088624	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:65088624C>T	ENST00000544348.1	+	2	861	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CDC42EP2_ENST00000279249.2_Silent_p.F85F|CDC42EP2_ENST00000533419.1_Silent_p.F85F			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	85					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CCTTCCAGTTCACCCGCACCG	0.657000													15	16					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640920	142640920	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142640920G>A	ENST00000355265.2	-	14	2016	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	514					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TAGCTCGGAGGGACCGGACAC	0.562000													8	33					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102345530	102345530	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:102345530C>T	ENST00000438793.3	+	20	2761	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	PAM_ENST00000346918.2_Missense_Mutation_p.S764F|PAM_ENST00000274392.9_Missense_Mutation_p.S667F|PAM_ENST00000379787.4_Missense_Mutation_p.S144F|PAM_ENST00000455264.2_Missense_Mutation_p.S764F|PAM_ENST00000348126.2_Missense_Mutation_p.S657F|PAM_ENST00000304400.7_Missense_Mutation_p.S764F	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	764	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ATGAACTTTTCCAATGGGGAA	0.393000													22	47					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945674	16945674	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:16945674G>A	ENST00000412962.1	-	0	1845																											TTGCTGCCTAGGAAATGTGCC	0.617000													11	223					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447961	96447961	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:96447961G>A	ENST00000285979.6	+	3	610	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CYP2C18_ENST00000339022.5_Silent_p.G137G|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTGGGATGGGGAAGAGGAGCA	0.473000													17	48					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74963841	74963841	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:74963841C>T	ENST00000315127.4	-	3	620	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	EDC3_ENST00000568176.1_Missense_Mutation_p.E147K|EDC3_ENST00000426797.3_Missense_Mutation_p.E147K	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	147					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTCAAGGATTCCATGTGCCTG	0.488000													32	72					0	0	1	0	0
CFDP1	10428	broad.mit.edu	37	16	75446505	75446505	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:75446505C>T	ENST00000283882.3	-	3	462	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CFDP1_ENST00000564286.1_5'UTR	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	110	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						AGAGTTCGTCCTCCTTCTTTT	0.473000													76	70					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11332895	11332895	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11332895G>A	ENST00000294618.7	-	27	3281	c.3270C>T	c.(3268-3270)gaC>gaT	p.D1090D	DOCK6_ENST00000319867.7_Silent_p.D429D	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1090					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCACCTTGGGGTCCGGGGCTT	0.612000													3	13					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8051529	8051529	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:8051529C>T	ENST00000607111.1	+	0	749																				kidney(1)|lung(4)|prostate(1)	6						TACTCAGTTTCAGTCTGGACA	0.418000													32	64					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94031981	94031981	+	Silent	SNP	C	C	T	rs139988203		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:94031981C>T	ENST00000282020.4	+	4	870	c.612C>T	c.(610-612)atC>atT	p.I204I	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.I109I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	204					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	p.I204I(1)		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)	AAAACAACATCAATAAAATGA	0.418000													32	69					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770165	38770165	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:38770165G>A	ENST00000449082.2	-	15	2507	c.2508C>T	c.(2506-2508)ttC>ttT	p.F836F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	836					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)	GGAAAGAGTGGAAGAAGTCGT	0.507000													14	40					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617644	54617644	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:54617644G>A	ENST00000302287.3	+	4	821	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	VSTM2A_ENST00000402613.3_Missense_Mutation_p.E139K|VSTM2A_ENST00000404951.1_Missense_Mutation_p.E139K|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000407838.3_Missense_Mutation_p.E139K|VSTM2A_ENST00000402026.2_Missense_Mutation_p.E138K			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	139	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGAGCTTCAGGAACACAAGGC	0.522000													3	12					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944162	73944162	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:73944162C>T	ENST00000476977.1	+	9	2880	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P397S|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P429S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P397S			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	397						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACAAGATCCCCTTCAAGCG	0.617000													9	34					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814475	106814475	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:106814475C>T	ENST00000407775.2	+	8	2415	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A590V|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A453V|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A590V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	722					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGAGGTCTGCTTCCAACAAA	0.517000													6	19					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19559495	19559495	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:19559495G>A	ENST00000328405.2	+	15	2814	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	850						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTCAGATCCAGAGATTGGAGC	0.408000													14	58					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46847345	46847345	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:46847345C>T	ENST00000393382.3	-	14	2296	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	TTLL6_ENST00000433608.2_Missense_Mutation_p.D412N	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	671						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACCACCCTGTCCGTCTCTGGG	0.507000													18	69					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2381031	2381031	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:2381031G>A	ENST00000202625.2	+	7	991	c.930G>A	c.(928-930)gtG>gtA	p.V310V	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.V310V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	310					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACCTGAGTGTGGACAAATACG	0.617000													31	79					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85981717	85981717	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:85981717C>T	ENST00000372113.4	-	3	1617	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	LRIT2_ENST00000538192.1_Missense_Mutation_p.E548K	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	538						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						TTGTCCCCCTCAGTGTCTATG	0.572000													40	84					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168150008	168150008	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:168150008C>T	ENST00000519560.1	-	22	2760	c.2339_splice	c.e22-1	p.D781_splice	SLIT3_ENST00000404867.3_Splice_Site_p.D781_splice|SLIT3_ENST00000332966.8_Splice_Site_p.D781_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	781					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCTCAGGTCACTAGGAAAA	0.463000													25	56					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72351348	72351348	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72351348T>C	ENST00000389916.4	+	20	3032	c.2894T>C	c.(2893-2895)gTt>gCt	p.V965A		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	965					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCCTGGCTGTTCCCCCCAAC	0.657000													9	99					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55478817	55478817	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:55478817C>T	ENST00000284073.2	+	6	599	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MSI2_ENST00000322684.3_Silent_p.F126F|MSI2_ENST00000442934.2_Silent_p.F69F|MSI2_ENST00000416426.2_Silent_p.F108F|MSI2_ENST00000579180.1_Silent_p.F26F	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	130	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGCAATATTTCGAGCAGTTTG	0.488000			T	HOXA9	CML								15	85					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236589	42236589	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:42236589C>T	ENST00000541110.1	-	5	1308	c.740G>A	c.(739-741)gGa>gAa	p.G247E	TRERF1_ENST00000372922.4_Missense_Mutation_p.G247E|TRERF1_ENST00000354325.2_Missense_Mutation_p.G247E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G247E|TRERF1_ENST00000340840.2_Missense_Mutation_p.G247E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	247	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCTGTCCTCCCTGCACTGG	0.602000													11	75					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149520932	149520932	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:149520932G>A	ENST00000378016.2	+	0	13509							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGCTGTAAGGAGTGGTGAG	0.667000													5	6					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38558073	38558073	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:38558073C>T	ENST00000399017.2	+	37	7571	c.4824C>T	c.(4822-4824)atC>atT	p.I1608I	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.I1608I|TTC3_ENST00000354749.2_Silent_p.I1608I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1608					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCCTTGAAATCAGGCAAATTA	0.279000													4	10					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86181124	86181124	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:86181124C>T	ENST00000257770.3	+	3	781	c.732C>T	c.(730-732)tcC>tcT	p.S244S	NT5E_ENST00000369646.3_Silent_p.S244S|NT5E_ENST00000369651.3_Silent_p.S244S	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	244					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GAGGACACTCCAACACATTTC	0.428000													15	24					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248751	20248751	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20248751G>A	ENST00000315957.4	+	1	351	c.270G>A	c.(268-270)aaG>aaA	p.K90K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGAGAGGAAGATAATTTCCT	0.448000													61	485					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70926328	70926328	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:70926328A>C	ENST00000393567.2	-	56	9503	c.9353T>G	c.(9352-9354)gTc>gGc	p.V3118G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3118										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)				GAAAACTTGGACATTTGTGGG	0.468000													17	90					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77844167	77844167	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:77844167C>T	ENST00000407578.2	-	7	1486	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R369K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R369K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTCTGTTTCTAATACGGGA	0.284000													38	70					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619283	71619283	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:71619283G>A	ENST00000408926.3	+	4	922	c.388G>A	c.(388-390)Gat>Aat	p.D130N	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.D130N	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	130						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TAGAGTGACTGATTTGAGCAT	0.388000													11	44					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915906	126915906	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:126915906C>T	ENST00000398112.1	+	2	618	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TGGCCCCCAACCTATTTCCTT	0.607000													49	127					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3227926	3227926	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:3227926G>A	ENST00000217939.6	-	7	8472	c.8318C>T	c.(8317-8319)tCg>tTg	p.S2773L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2773	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCAGATGCGACTTATCCGG	0.562000													16	25					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124266289	124266289	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:124266289C>T	ENST00000368984.3	+	4	988	c.860C>T	c.(859-861)tCc>tTc	p.S287F		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	287	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGCCCGTTTTCCCTTCAAAAC	0.617000													25	42					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8675472	8675472	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:8675472C>T	ENST00000317371.4	-	11	1378	c.153G>A	c.(151-153)gcG>gcA	p.A51A	SSUH2_ENST00000544814.1_Silent_p.A73A|SSUH2_ENST00000415132.1_Silent_p.A51A|SSUH2_ENST00000341795.3_Silent_p.A51A					ssu-2 homolog (C. elegans)																		CCTCCGTCATCGCAGGGACTC	0.647000													18	33					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64573726	64573726	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:64573726C>T	ENST00000337652.1	-	7	1545	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	MEN1_ENST00000377321.1_Missense_Mutation_p.D308N|MEN1_ENST00000377313.1_Missense_Mutation_p.D348N|MEN1_ENST00000377316.2_Missense_Mutation_p.D343N|MEN1_ENST00000377326.3_Missense_Mutation_p.D343N|MEN1_ENST00000315422.4_Missense_Mutation_p.D343N|MEN1_ENST00000312049.6_Missense_Mutation_p.D343N|MEN1_ENST00000443283.1_Missense_Mutation_p.D348N|MEN1_ENST00000394374.2_Missense_Mutation_p.D348N|MEN1_ENST00000394376.1_Missense_Mutation_p.D348N|MEN1_ENST00000478548.1_5'UTR	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	348	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGGCCGTGTCCGCCCAGGCC	0.592000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	46					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815730	23815730	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:23815730C>T	ENST00000264867.2	-	8	1495	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	459					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAGCTCGGCTCGGATTTCCTG	0.502000													23	41					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853436	143853436	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:143853436G>A	ENST00000507359.2	+	3	2137	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	KCTD16_ENST00000512467.1_Missense_Mutation_p.G349D	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	349						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCAAGAAGGGCCCTGTCCAG	0.572000													22	53					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303845	151303845	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:151303845G>A	ENST00000370323.4	-	4	564	c.248C>T	c.(247-249)cCt>cTt	p.P83L	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P83L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	83										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCTGGGGAGGATTTGGTGT	0.542000													75	58					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302386	31302386	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:31302386G>A	ENST00000265071.2	+	6	1245	c.980G>A	c.(979-981)gGg>gAg	p.G327E	CDH6_ENST00000514738.1_Missense_Mutation_p.G272E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCCAGGAAGGGATTATAACT	0.443000													11	25					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860018	16860018	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:16860018C>T	ENST00000524140.2	+	6	983	c.565C>T	c.(565-567)Ctt>Ttt	p.L189F	NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000379808.3_Missense_Mutation_p.L189F|NWD1_ENST00000552788.1_Missense_Mutation_p.L189F|NWD1_ENST00000339803.6_Missense_Mutation_p.L54F|NWD1_ENST00000549814.1_Missense_Mutation_p.L189F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	189							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCGTCTTCCTTAGAGAGAT	0.582000													23	46					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10961740	10961740	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:10961740G>A	ENST00000240691.2	-	1	1027	c.935C>T	c.(934-936)cCa>cTa	p.P312L		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	312					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGGTCTCTATGGAACAAAAGG	0.353000													14	28					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184818	32184818	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:32184818C>T	ENST00000375023.3	-	11	1903	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	589	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCATCCACCTCTGTTTGACAG	0.597000													98	325					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25899713	25899713	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:25899713C>T	ENST00000520164.1	-	2	723	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	62	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGGATTTCCTCAAGTTGG	0.582000													10	42					0	0	1	0	0
MEIOB	254528	broad.mit.edu	37	16	1889285	1889285	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:1889285T>C	ENST00000412554.2	-	12	1383	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	FAHD1_ENST00000382668.4_Missense_Mutation_p.L220P|FAHD1_ENST00000382666.4_3'UTR|MEIOB_ENST00000452149.2_Missense_Mutation_p.S397G|MEIOB_ENST00000325962.3_Missense_Mutation_p.S397G|MEIOB_ENST00000470044.1_Missense_Mutation_p.S190G|MEIOB_ENST00000397344.3_Missense_Mutation_p.S397G	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		TCAGCAACACTTCCTGTGAGA	0.393000													13	24					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567440	45567440	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:45567440G>A	ENST00000588982.1	-	3	540	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZBTB7C_ENST00000332053.2_Silent_p.F13F|ZBTB7C_ENST00000590800.1_Silent_p.F13F|ZBTB7C_ENST00000535628.2_Silent_p.F13F|ZBTB7C_ENST00000586438.1_Silent_p.F13F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	13						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						TGTGGTTGGGGAAGGGAATGC	0.572000													12	30					0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3301285	3301285	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3301285G>A	ENST00000322608.2	-	1	419	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GGGCGAGACAGAGCATGGGGC	0.562000											OREG0007321	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	18	44					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089644	86089644	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:86089644G>A	ENST00000330753.4	+	2	2553	c.1786G>A	c.(1786-1788)Gac>Aac	p.D596N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D596N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	596					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACCAAGAAGGACAACTCCAT	0.483000													35	107					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976434	131976434	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131976434C>T	ENST00000356920.5	+	1	553	c.459C>T	c.(457-459)ccC>ccT	p.P153P	POTEE_ENST00000358087.5_Silent_p.P153P|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	153							ATP binding										GTAAAGTCCCCAGAAAGGATC	0.582000													54	24					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406671	57406671	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:57406671C>T	ENST00000543257.1	-	10	1659	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	C8B_ENST00000535057.1_Missense_Mutation_p.D355N|C8B_ENST00000371237.4_Missense_Mutation_p.D417N	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	417	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCATGGTGTCCCTCTTGTTT	0.552000													9	24					0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20877975	20877975	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:20877975G>A	ENST00000383233.3	-	15	939	c.887C>T	c.(886-888)tCc>tTc	p.S296F	TMEM241_ENST00000475185.1_5'UTR|TMEM241_ENST00000450466.2_Intron	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	296						integral to membrane											TCTTGTTCAGGAGCTCTTCCG	0.577000													13	34					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26558050	26558050	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:26558050G>A	ENST00000376261.3	+	9	1426	c.923G>A	c.(922-924)gGg>gAg	p.G308E	GAD2_ENST00000259271.3_Missense_Mutation_p.G308E	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	308					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCTTCCAGAGGGAAAATGATT	0.403000													5	29					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276146	42276146	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:42276146C>T	ENST00000399518.3	-	20	2899	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E776K|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	793	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGCCCTGCTCCAGCTCCTCA	0.517000													3	19					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124062268	124062268	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:124062268G>A	ENST00000373818.4	+	1	198	c.129G>A	c.(127-129)cgG>cgA	p.R43R	GSN_ENST00000341272.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000545652.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	43					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						cccaggggcgggtgcccgagg	0.716000													4	6					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41033182	41033182	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:41033182G>A	ENST00000399564.4	-	23	2772	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	MROH2B_ENST00000506092.2_Silent_p.F329F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGAAAACTGGAACCCCTGAT	0.453000													14	34					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117063404	117063404	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:117063404C>T	ENST00000356083.3	+	52	5145	c.4755_splice	c.e52+1	p.P1585_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1585	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCGGGACTCCCGGTATGTGTG	0.587000													17	49					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043420	30043420	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:30043420C>T	ENST00000244360.6	-	1	244	c.147G>A	c.(145-147)gcG>gcA	p.A49A	RNF39_ENST00000376751.3_Silent_p.A49A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	49						cytoplasm	zinc ion binding										CCTTCGAGCGCGCAGATGGCG	0.672000													5	28					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17393774	17393774	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:17393774C>T	ENST00000394458.3	+	4	699	c.423C>T	c.(421-423)atC>atT	p.I141I	ANKLE1_ENST00000404085.1_Silent_p.I163I|ANKLE1_ENST00000594072.1_Silent_p.I130I|CTD-2278I10.6_ENST00000596542.1_3'UTR|ANKLE1_ENST00000598347.1_Silent_p.I141I|ANKLE1_ENST00000433424.2_Silent_p.I195I	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	141						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGACCCGGATCGGGGCAGAGA	0.687000											OREG0025341	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74019436	74019436	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:74019436C>T	ENST00000301607.3	-	4	670	c.417G>A	c.(415-417)aaG>aaA	p.K139K	EVPL_ENST00000586740.1_Silent_p.K139K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	139	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCAGCACCATCTTCTCGTACA	0.627000													48	77					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45368806	45368806	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:45368806G>A	ENST00000252483.5	+	2	367	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	PVRL2_ENST00000252485.4_Missense_Mutation_p.A123T	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	123	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCTCCAGGACGCCACGCTGGC	0.662000													29	79					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82353484	82353484	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:82353484G>A	ENST00000509081.1	-	13	1584	c.1363C>T	c.(1363-1365)Cat>Tat	p.H455Y	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.H414Y|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.H456Y			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	456					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTCTCTATATGATTTTCAGGT	0.378000													10	31					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73240699	73240699	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:73240699C>T	ENST00000245541.6	-	4	517		c.e4+1		GGA3_ENST00000579743.1_Splice_Site|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000582486.1_Splice_Site|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Splice_Site|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000537686.1_Splice_Site	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3						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)			CGCTGACTGACCTTTGGAGAG	0.483000													36	187					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795479	142795479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:142795479G>A	ENST00000370498.1	-	2	952	c.199C>T	c.(199-201)Caa>Taa	p.Q67*		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	67										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCAGTTGATTTGAATTT	0.438000													69	57					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946926	144946926	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:144946926C>T	ENST00000525985.1	-	2	567	c.496G>A	c.(496-498)Gga>Aga	p.G166R				P58107	EPIPL_HUMAN	epiplakin 1	166						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGAGCACTCCCTGGGCGGGG	0.682000													5	11					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821727	206821727	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:206821727T>C	ENST00000367106.1	+	4	1597	c.1124T>C	c.(1123-1125)tTt>tCt	p.F375S	DYRK3_ENST00000367108.3_Missense_Mutation_p.F375S|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.F395S			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	395	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATATGGAGTTTTGGCTGCATC	0.488000													37	91					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173466	5173466	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5173466G>A	ENST00000380367.1	-	2	551	c.134C>T	c.(133-135)tCc>tTc	p.S45F	OR52A1_ENST00000328942.1_Missense_Mutation_p.S45F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	45					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGCAAGGAATTTCCAAT	0.468000													15	40					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981675	89981675	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:89981675G>A	ENST00000405460.2	+	29	6449	c.6353G>A	c.(6352-6354)gGa>gAa	p.G2118E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2118					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGCATTTGGAACTCTTCAG	0.433000													14	36					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117063403	117063403	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:117063403C>T	ENST00000356083.3	+	52	5144	c.4753C>T	c.(4753-4755)Ccg>Tcg	p.P1585S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1585	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTCGGGACTCCCGGTATGTGT	0.587000													17	50					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464727	104464727	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:104464727C>T	ENST00000372578.3	-	2	466	c.355G>A	c.(355-357)Gag>Aag	p.E119K	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E119K|TEX13A_ENST00000413579.1_Missense_Mutation_p.E119K|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	119						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CGTTCCGTCTCCTGCTGCTCC	0.607000													9	11					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102055947	102055947	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:102055947A>G	ENST00000318222.3	-	7	1670	c.1288T>C	c.(1288-1290)Ttc>Ctc	p.F430L	PKD2L1_ENST00000338519.3_Missense_Mutation_p.F355L|PKD2L1_ENST00000353274.3_Missense_Mutation_p.F430L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	430					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AAGGCGAGGAACTCAAAGTCT	0.532000													22	50					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78437165	78437165	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:78437165C>T	ENST00000278550.7	-	23	3971	c.3509G>A	c.(3508-3510)gGa>gAa	p.G1170E		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TAGGCTCCATCCTCCAAGCTT	0.458000													74	185					0	0	1	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882729	143882729	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143882729G>A	ENST00000486333.1	+	1	2171	c.2133G>A	c.(2131-2133)agG>agA	p.R711R		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	711	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						TGGATACAAGGGGCCCGTTCA	0.527000													43	120					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78322033	78322033	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:78322033C>T	ENST00000582970.1	+	29	10041	c.9898C>T	c.(9898-9900)Ctt>Ttt	p.L3300F	RNF213_ENST00000336301.6_Missense_Mutation_p.L1373F|RNF213_ENST00000508628.2_Missense_Mutation_p.L3349F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCAGATTTCCTTCAGGCACA	0.587000													19	117					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1043233	1043233	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:1043233C>T	ENST00000360803.4	+	5	628	c.546C>T	c.(544-546)tcC>tcT	p.S182S	GTPBP4_ENST00000538293.1_Silent_p.S66S|GTPBP4_ENST00000545048.1_Silent_p.S135S|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	182					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTGGGAAGTCCAGCTTCATCA	0.448000													46	94					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655026	142655026	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142655026G>A	ENST00000355265.2	-	6	1034	c.560C>T	c.(559-561)tCc>tTc	p.S187F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	187					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAGTTTAAGGAAGTCCATTT	0.517000													16	31					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200978531	200978531	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:200978531C>T	ENST00000332129.2	-	2	443	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	KIF21B_ENST00000422435.2_Missense_Mutation_p.G43R|KIF21B_ENST00000461742.2_Missense_Mutation_p.G43R|KIF21B_ENST00000360529.5_Missense_Mutation_p.G43R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	43	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTGTCCTTCCCCAGCAGGACC	0.567000													13	64					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183547402	183547402	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:183547402C>T	ENST00000317096.4	-	10	1184	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	PARL_ENST00000435888.1_Missense_Mutation_p.G291E|PARL_ENST00000311101.5_Missense_Mutation_p.G325E	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	375					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGAGCCACCTCCTTTTTTGGG	0.493000													49	152					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367831	142367831	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:142367831G>A	ENST00000377741.3	-	2	283	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	65						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGCCCTGCCAGGAAGATGGCT	0.652000													16	22					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35752064	35752064	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:35752064G>A	ENST00000400441.3	-	15	1923	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	MROH8_ENST00000441008.2_Missense_Mutation_p.P628S|MROH8_ENST00000217333.8_Missense_Mutation_p.P471S					maestro heat-like repeat family member 8																		AGGCCACTTGGGATGTCGACA	0.483000													15	82					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58110173	58110173	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:58110173G>A	ENST00000357272.4	+	22	4004	c.3839G>A	c.(3838-3840)tGc>tAc	p.C1280Y	FLNB_ENST00000493452.1_Missense_Mutation_p.C1111Y|FLNB_ENST00000419752.2_Missense_Mutation_p.C1111Y|FLNB_ENST00000429972.2_Missense_Mutation_p.C1280Y|FLNB_ENST00000358537.3_Missense_Mutation_p.C1280Y|FLNB_ENST00000348383.5_Missense_Mutation_p.C1280Y|FLNB_ENST00000295956.4_Missense_Mutation_p.C1280Y|FLNB_ENST00000490882.1_Missense_Mutation_p.C1280Y			O75369	FLNB_HUMAN	filamin B, beta	1280	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCACCGAGTGCTTTGTCACA	0.592000													11	43					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108476028	108476028	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:108476028C>T	ENST00000295755.6	-	1	203	c.5G>A	c.(4-6)gGg>gAg	p.G2E		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	2					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGAGGACGGCCCCATCCTGTA	0.522000													20	40					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944103	55944103	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:55944103G>A	ENST00000312298.1	+	1	10	c.10G>A	c.(10-12)Gat>Aat	p.D4N		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TATGGCTGATGATAATTTTAC	0.318000													19	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082369	9082369	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9082369G>A	ENST00000397910.4	-	1	9649	c.9446C>T	c.(9445-9447)tCa>tTa	p.S3149L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3150	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						GGCAGGAACTGAAATAGAGCT	0.458000													31	47					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546080	178546080	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:178546080C>T	ENST00000432997.1	+	4	694	c.342C>T	c.(340-342)ctC>ctT	p.L114L	KCNMB2_ENST00000420517.2_Silent_p.L114L|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.L114L|KCNMB2_ENST00000452583.1_Silent_p.L114L|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	114					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			ACCCCTGCCTCCAGGTGTACG	0.478000													18	50					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299291	125299291	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:125299291G>A	ENST00000538699.1	-	2	697	c.617C>T	c.(616-618)aCc>aTc	p.T206I	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.T206I	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	206										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						CACAGCTACGGTGTCACTCAG	0.652000													20	14					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6645674	6645674	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:6645674G>A	ENST00000229239.5	+	3	710	c.44G>A	c.(43-45)gGg>gAg	p.G15E	GAPDH_ENST00000396859.1_Missense_Mutation_p.G15E|GAPDH_ENST00000396856.1_5'UTR|GAPDH_ENST00000396861.1_Missense_Mutation_p.G15E|GAPDH_ENST00000396858.1_5'UTR	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	15	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	GGTCGTATTGGGCGCCTGGTC	0.512000													32	70					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155500260	155500260	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:155500260G>A	ENST00000461783.3	+	13	3884	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	TIAM2_ENST00000367174.2_Missense_Mutation_p.E247K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E871K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E183K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E871K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E895K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E207K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E871K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	871	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCACCATATGAATATATGCA	0.388000													12	29					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915882	26915882	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:26915882G>A	ENST00000231021.4	-	3	551	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	127	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCTTGGCACGAAGAATGTAC	0.393000													70	74					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189477	167189477	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:167189477G>A	ENST00000476257.1	-	3	444	c.146C>T	c.(145-147)cCc>cTc	p.P49L	SERPINI2_ENST00000471111.1_Missense_Mutation_p.P49L|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P49L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P49L|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	49					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P49H(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TATTCCAAGGGGTGAAAATAT	0.393000													21	64					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103131239	103131239	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:103131239G>A	ENST00000424685.2	-	59	9640	c.9481C>T	c.(9481-9483)Cct>Tct	p.P3161S	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.P3161S|RELN_ENST00000343529.5_Missense_Mutation_p.P3161S			P78509	RELN_HUMAN	reelin	3161					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGAGGAAGGAAGGCACTGG	0.448000													16	45					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909009	94909009	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:94909009G>A	ENST00000334708.3	-	5	1267	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	401					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CCTCCCAAAGGAGCAAGAGGA	0.567000													6	14					0	0	1	0	0
LNP1	348801	broad.mit.edu	37	3	100174769	100174769	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:100174769A>G	ENST00000383693.3	+	4	1816	c.536A>G	c.(535-537)tAa>tGa	p.*179*	LNP1_ENST00000489752.1_Silent_p.*192*	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	0										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGGCCTGAATAATACTCTGCT	0.463000													29	49					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996128	57996128	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:57996128C>T	ENST00000316770.2	-	1	262	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAGCAGAGTTCCAGGAAAGAC	0.537000													16	50					0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5164230	5164230	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:5164230C>T	ENST00000381641.3	-	2	390	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	109						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GACTGCATTTCCCAACTGTTT	0.318000													17	63					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369155	22369155	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:22369155C>T	ENST00000332663.2	+	1	678	c.580C>T	c.(580-582)Cca>Tca	p.P194S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P194S(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAACACCTTCCCAGAGGAGTT	0.473000													36	174					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100194382	100194382	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:100194382C>T	ENST00000355295.4	+	4	720	c.425C>T	c.(424-426)cCg>cTg	p.P142L	TDRD7_ENST00000422139.2_Missense_Mutation_p.P68L	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	142					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AATCCAGCACCGTTAAGAGAC	0.388000													18	75					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44187426	44187426	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:44187426C>T	ENST00000403799.3	-	7	1155	c.686G>A	c.(685-687)gGc>gAc	p.G229D	GCK_ENST00000395796.3_Missense_Mutation_p.G228D|GCK_ENST00000345378.2_Missense_Mutation_p.G230D|GCK_ENST00000437084.1_Missense_Mutation_p.G212D	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	229					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGCATTGCAGCCCGTGCCTGG	0.677000													68	190					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	T	rs104894226		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:534285C>T	ENST00000417302.1	-	2	225	c.38G>A	c.(37-39)gGt>gAt	p.G13D	HRAS_ENST00000451590.1_Missense_Mutation_p.G13D|HRAS_ENST00000397594.1_Missense_Mutation_p.G13D|HRAS_ENST00000397596.2_Missense_Mutation_p.G13D|HRAS_ENST00000311189.7_Missense_Mutation_p.G13D|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			8	27					0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42304977	42304977	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:42304977C>T	ENST00000396169.2	-	4	1051	c.146G>A	c.(145-147)aGa>aAa	p.R49K	CCK_ENST00000434608.1_Missense_Mutation_p.R49K|CCK_ENST00000334681.5_Missense_Mutation_p.R49K	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	49					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GCCATCCGTTCTCTGCGATAC	0.687000													25	70					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428108	79428108	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:79428108C>T	ENST00000307745.7	+	30	6419	c.6419C>T	c.(6418-6420)cCc>cTc	p.P2140L	RP11-1055B8.8_ENST00000572590.1_RNA																							GCCCTGTTCCCCGTGCACAGC	0.697000													3	17					0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85922508	85922508	+	Missense_Mutation	SNP	G	G	A	rs79199677		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:85922508G>A	ENST00000409696.3	+	3	355	c.73G>A	c.(73-75)Gag>Aag	p.E25K	GNLY_ENST00000263863.4_Missense_Mutation_p.E40K|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Missense_Mutation_p.E67K	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	40					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						GCGTGATGAGGAGAAATCCTG	0.622000													5	23					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099414	133099414	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:133099414G>A	ENST00000515826.1	+	3	982	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	TMEM108_ENST00000393130.3_Missense_Mutation_p.G287S|TMEM108_ENST00000321871.6_Missense_Mutation_p.G287S|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	287						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGCCCAGGGGGGTGGTTCTAC	0.652000													10	25					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331897	70331897	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:70331897C>T	ENST00000338508.4	-	32	4503	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N	SHANK2_ENST00000409161.1_Missense_Mutation_p.D905N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D906N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1122N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1122					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGTGGTGGTCGCTGCTACTC	0.582000													15	37					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110857848	110857848	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:110857848C>T	ENST00000375820.4	-	16	1017	c.896G>A	c.(895-897)gGg>gAg	p.G299E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G299E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	299	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TACGGGACTCCCTTTTTCCCC	0.453000													32	100					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74695139	74695139	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:74695139G>A	ENST00000380494.5	-	12	1861	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S395F|COL4A3BP_ENST00000261415.7_Intron	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	395	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CAGTACCTGGGAGCTGAATCT	0.438000													6	19					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100478272	100478272	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:100478272G>A	ENST00000279907.7	-	10	1482	c.1270C>T	c.(1270-1272)Ccc>Tcc	p.P424S	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.P424S|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.P74S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	424										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTGCTGGGGAGAGGCATGT	0.418000													22	63					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244150	8244150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:8244150G>A	ENST00000332175.8	+	15	3432	c.2395G>A	c.(2395-2397)Ggc>Agc	p.G799S	PTPRM_ENST00000444013.1_Missense_Mutation_p.G586S|PTPRM_ENST00000400053.4_Missense_Mutation_p.G737S|PTPRM_ENST00000400060.4_Missense_Mutation_p.G799S|PTPRM_ENST00000580170.1_Missense_Mutation_p.G799S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	799					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGCTGAGCAGGGCACAAACTG	0.488000													20	72					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37541745	37541745	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:37541745G>A	ENST00000432825.2	-	2	69	c.21C>T	c.(19-21)ccC>ccT	p.P7P	RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	7	F-box.					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)		ACAGCTCCAAGGGGAGGCCAC	0.522000													11	28					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165900	172165900	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:172165900G>A	ENST00000241256.2	-	1	346	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	GHSR_ENST00000427970.1_Missense_Mutation_p.R102C	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	102					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGCCAGAGGCGAACGAGGTCC	0.612000													12	32					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296288	10296288	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10296288C>T	ENST00000403437.2	-	37	5417	c.5323G>A	c.(5323-5325)Gaa>Aaa	p.E1775K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1775					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTGTCCTGTTCCTTCTTCAGC	0.512000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				37	103					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52534273	52534273	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:52534273C>T	ENST00000261839.7	-	20	2689	c.2528G>A	c.(2527-2529)gGa>gAa	p.G843E	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	843	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGCCAGGAATCCTCGGCTGTA	0.547000													45	129					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903853	5903853	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:5903853G>A	ENST00000378961.4	+	4	1267	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	355						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAGGCCCCTGAGGACCTGGA	0.527000													83	81					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74313579	74313579	+	Silent	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:74313579C>G	ENST00000263665.6	-	22	3087	c.3060G>C	c.(3058-3060)ctG>ctC	p.L1020L	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	1020					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CAATTAAGAACAGTACTATAG	0.353000													3	27					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137207	40137207	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:40137207G>A	ENST00000278198.2	-	2	2599	c.636C>T	c.(634-636)atC>atT	p.I212I	LRRC4C_ENST00000527150.1_Silent_p.I212I|LRRC4C_ENST00000530763.1_Silent_p.I212I|LRRC4C_ENST00000528697.1_Silent_p.I212I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	212					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)				TGAGGTTAGGGATTTCCCGAA	0.458000													20	40					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88085213	88085213	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:88085213G>A	ENST00000273963.5	-	9	1897	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F	KLHL8_ENST00000512111.1_Missense_Mutation_p.S519F|KLHL8_ENST00000545252.1_Missense_Mutation_p.S168F|KLHL8_ENST00000425278.2_Missense_Mutation_p.S336F|KLHL8_ENST00000498875.2_Missense_Mutation_p.S443F	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	519										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACTCAGAGGAGAATTATCATC	0.393000													12	36					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54844928	54844928	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54844928C>T	ENST00000291759.4	-	8	1471	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	472						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGGGGGGCTTCTCTGGCTGTG	0.547000													10	48					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012883	29012883	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29012883C>T	ENST00000377175.1	-	1	134	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGGATCATCTCCATTTTTGGA	0.408000													34	45					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13936951	13936951	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:13936951C>T	ENST00000294489.6	+	3	840	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	PDPN_ENST00000376061.4_Missense_Mutation_p.H49Y|PDPN_ENST00000475043.1_Missense_Mutation_p.H49Y|PDPN_ENST00000513143.1_Missense_Mutation_p.H49Y|PDPN_ENST00000376057.4_Missense_Mutation_p.H167Y|PDPN_ENST00000487038.1_Missense_Mutation_p.H49Y|PDPN_ENST00000509009.1_Missense_Mutation_p.H86Y			Q86YL7	PDPN_HUMAN	podoplanin	91					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		AAGCACAGTCCACGCGCAAGA	0.507000													14	52					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132171137	132171137	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:132171137T>C	ENST00000360971.2	+	3	341	c.321T>C	c.(319-321)agT>agC	p.S107S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	107	SMB 1.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGTTAAAAGTTGCAAAGGTC	0.383000													16	21					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49749598	49749598	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:49749598C>T	ENST00000492622.2	+	13	1756	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	FNDC3A_ENST00000398316.3_Missense_Mutation_p.S428F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S484F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	484	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACTTGGTTATCCTTACAATGG	0.393000													8	28					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15844178	15844178	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:15844178G>A	ENST00000338282.6	-	16	1981	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	MYH11_ENST00000300036.5_Silent_p.I625I|MYH11_ENST00000452625.2_Silent_p.I632I|MYH11_ENST00000576790.1_Silent_p.I625I|MYH11_ENST00000396324.3_Silent_p.I632I	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	625	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGGCCCACGATGCGGTCCA	0.647000			T	CBFB	AML								4	9					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042806	75042806	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:75042806C>T	ENST00000343932.4	+	2	790	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	243					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCCCATCCTTCGCTACCTGCC	0.557000													38	86					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66667002	66667002	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:66667002G>A	ENST00000488550.1	+	3	566	c.267G>A	c.(265-267)ctG>ctA	p.L89L	MEIS1_ENST00000407092.2_Silent_p.L89L|MEIS1_ENST00000495021.2_Silent_p.L24L|MEIS1_ENST00000398506.2_Silent_p.L87L|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000272369.9_Silent_p.L89L|MEIS1_ENST00000444274.2_Silent_p.L57L|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000560281.2_Silent_p.L89L			O00470	MEIS1_HUMAN	Meis homeobox 1	89							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCTTAGCACTGATTTTTGAGA	0.493000													10	26					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88902153	88902153	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:88902153C>T	ENST00000268695.5	-	7	826	c.738G>A	c.(736-738)ttG>ttA	p.L246L	GALNS_ENST00000542788.1_Silent_p.L171L	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	246						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GACTGGTGCCCAAGAAGGGTT	0.607000													20	32					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88911342	88911342	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:88911342C>T	ENST00000298786.4	+	3	345	c.231C>T	c.(229-231)ttC>ttT	p.F77F	FAM35A_ENST00000298784.1_Silent_p.F77F			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	77										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTGGTCATTTCTTAGCAAACT	0.343000													13	29					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433748	43433748	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:43433748C>T	ENST00000406070.2	-	0	651				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TAGGGAGGCTCTGACCATTCA	0.502000													69	220					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152804247	152804247	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:152804247C>T	ENST00000367255.5	-	14	1924	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	SYNE1_ENST00000367253.4_Silent_p.T441T|SYNE1_ENST00000341594.5_Silent_p.T441T|SYNE1_ENST00000367248.3_Silent_p.T431T|SYNE1_ENST00000448038.1_Silent_p.T448T|SYNE1_ENST00000265368.4_Silent_p.T441T|SYNE1_ENST00000466159.2_Silent_p.T441T|SYNE1_ENST00000413186.2_Silent_p.T441T|SYNE1_ENST00000423061.1_Silent_p.T448T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	441					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCGTTGTATCGTGTTTGCTG	0.502000										HNSCC(10;0.0054)			48	172					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9804831	9804831	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:9804831G>A	ENST00000256460.3	-	4	459	c.282C>T	c.(280-282)atC>atT	p.I94I	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	94	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		ACAGCTGCATGATGAGGTAGA	0.577000													18	58					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869462	234869462	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:234869462G>C	ENST00000324695.4	+	12	1445	c.1405G>C	c.(1405-1407)Gac>Cac	p.D469H	TRPM8_ENST00000433712.2_Missense_Mutation_p.D157H	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	469						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTCATAAAGGACAGACCCAA	0.433000													38	28					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139091705	139091705	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:139091705G>A	ENST00000371746.3	-	3	406	c.288C>T	c.(286-288)gcC>gcT	p.A96A	LHX3_ENST00000371748.5_Silent_p.A91A	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	91	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCTGGCACGCGGCGCACTTGG	0.711000													6	10					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6681967	6681967	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:6681967G>A	ENST00000245907.6	-	35	4427	c.4335C>T	c.(4333-4335)atC>atT	p.I1445I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1445	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAGGTAGATGATGAGGGTGT	0.517000													39	80					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555466	44555466	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:44555466G>A	ENST00000289547.4	-	19	3868	c.3813C>T	c.(3811-3813)ctC>ctT	p.L1271L	NPC1L1_ENST00000381160.3_Silent_p.L1244L|NPC1L1_ENST00000546276.1_Silent_p.L1198L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1271					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGTGATCAGGAGGTTGAGGC	0.592000													12	37					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64216781	64216781	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:64216781G>A	ENST00000205948.6	-	5	532	c.495C>T	c.(493-495)ctC>ctT	p.L165L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	165	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGTCCCGATAGAGGGAATTGT	0.423000													25	120					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128344834	128344834	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:128344834G>A	ENST00000296255.3	-	7	1206	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	RPN1_ENST00000490166.1_5'UTR|RPN1_ENST00000497289.1_Silent_p.P214P	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	386					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TGATTTCATAGGGACTATCAA	0.433000			T	EVI1	AML								15	37					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47582484	47582484	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:47582484C>T	ENST00000371917.4	+	8	983	c.983C>T	c.(982-984)cCc>cTc	p.P328L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	328					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGTGCTATTCCCCCAGGAGTT	0.473000													25	23					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226932	43226932	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:43226932C>T	ENST00000332499.2	+	1	2249	c.375C>T	c.(373-375)tcC>tcT	p.S125S		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	125					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTCATGACTCCGAGGCCAGTA	0.657000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	1					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058352	152058352	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:152058352C>T	ENST00000368806.1	-	3	1870	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	602							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTGTTTTTCTCACCAGGTG	0.537000													39	87					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8579050	8579050	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:8579050C>T	ENST00000157600.3	+	3	543	c.311C>T	c.(310-312)cCt>cTt	p.P104L	LMCD1_ENST00000454244.1_Missense_Mutation_p.P31L|LMCD1_ENST00000535732.1_Missense_Mutation_p.P104L|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Intron	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	104	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ATGACCAACCCTATTGCTACT	0.547000													53	150					0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625419	111625419	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:111625419G>A	ENST00000333999.3	+	1	817	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	273						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGCATCGTGGAGGACATCAA	0.582000													20	41					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450587	55450587	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:55450587A>G	ENST00000588756.1	-	6	2086	c.1600T>C	c.(1600-1602)Ttg>Ctg	p.L534L	NLRP7_ENST00000592784.1_Silent_p.L534L|NLRP7_ENST00000448121.2_Silent_p.L534L|NLRP7_ENST00000590030.1_Silent_p.L534L|NLRP7_ENST00000340844.2_Silent_p.L534L|NLRP7_ENST00000446217.1_Silent_p.L562L|NLRP7_ENST00000328092.5_Silent_p.L534L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	534							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGGCCTCCAACTCCTTGGCT	0.498000													9	40					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21442841	21442841	+	Splice_Site	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:21442841C>A	ENST00000400602.2	-	2	105		c.e2-1		XPO4_ENST00000490513.1_Splice_Site|XPO4_ENST00000255305.6_Splice_Site	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4						protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAGGTGGTGCCTTGAGAGTTA	0.353000													18	37					7.41877e-09	7.51573e-09	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21049085	21049085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21049085G>A	ENST00000261383.3	-	34	4947	c.4948C>T	c.(4948-4950)Cag>Tag	p.Q1650*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q1650*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1650					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)		CTACATACCTGAAACAGAGGG	0.502000													8	16					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123630908	123630908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:123630908C>T	ENST00000422452.2	-	20	3716	c.3653G>A	c.(3652-3654)aGa>aAa	p.R1218K	TENM1_ENST00000371130.3_Missense_Mutation_p.R1218K|TENM1_ENST00000461429.1_5'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGGAAATATTCTCCTTACAAA	0.413000													14	16					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625158	154625158	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:154625158C>T	ENST00000260010.6	+	1	2507	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	367					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				ATACTTGGATCTCAGTGAAAA	0.328000													5	27					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509428	106509428	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:106509428C>T	ENST00000359195.3	+	2	1732	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	PIK3CG_ENST00000440650.2_Silent_p.L474L|PIK3CG_ENST00000496166.1_Silent_p.L474L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	474					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCGTTTCCTCCTGCGCCGTG	0.522000													27	61					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322518	31322518	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:31322518G>A	ENST00000269053.3	+	2	196	c.126G>A	c.(124-126)caG>caA	p.Q42Q	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	42					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCTGAGCCAGAGTGGTGGTG	0.612000													43	37					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130513	71130513	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:71130513C>T	ENST00000333538.5	+	7	1832	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	400						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAATGCTCTTCGCGTTGCTGA	0.537000													20	63					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45267366	45267366	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:45267366C>T	ENST00000372201.4	+	4	747	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	170	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCGGCAGATCCTTTCTGGCCT	0.632000													24	67					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631201	11631201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:11631201C>T	ENST00000262442.3	+	28	5844	c.5776C>T	c.(5776-5778)Cga>Tga	p.R1926*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R1926*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1926	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGTTTAATCGAATCTCCGT	0.478000													10	27					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881853	38881853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:38881853G>A	ENST00000274276.3	+	4	807	c.405G>A	c.(403-405)tgG>tgA	p.W135*	OSMR_ENST00000502536.1_Nonsense_Mutation_p.W135*	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	135					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGAGTTCCTGGGAGGAAGTCA	0.418000													22	67					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077142	9077142	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9077142C>T	ENST00000397910.4	-	3	10507	c.10304G>A	c.(10303-10305)gGg>gAg	p.G3435E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3436	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						GATGTCACTCCCAGATGTCTG	0.458000													38	77					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299667	31299667	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:31299667G>A	ENST00000265071.2	+	5	1005	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CDH6_ENST00000514738.1_Missense_Mutation_p.G192E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	247	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATGGGAGGATTATCTGGG	0.478000													16	65					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170221237	170221237	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:170221237G>A	ENST00000518525.1	+	5	639	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	GABRP_ENST00000519598.1_Missense_Mutation_p.E59K|GABRP_ENST00000265294.4_Missense_Mutation_p.E59K|GABRP_ENST00000519385.1_Missense_Mutation_p.E59K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	59						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATCTTAGGAGAACCCGTACA	0.358000													16	37					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141747584	141747584	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:141747584G>A	ENST00000475668.2	+	22	2552		c.e22-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTCCCCACAGTCGAAAGAAC	0.413000													7	23					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45815369	45815369	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:45815369C>T	ENST00000397928.1	+	12	2312	c.1867C>T	c.(1867-1869)Cgt>Tgt	p.R623C	TRPM2_ENST00000300482.5_Missense_Mutation_p.R623C|TRPM2_ENST00000397932.2_Missense_Mutation_p.R623C|TRPM2_ENST00000300481.9_Missense_Mutation_p.R603C|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	623						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACCCCATCCGTGACCTTCT	0.572000													30	53					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634460	1634460	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:1634460C>T	ENST00000409644.1	+	4	4065	c.4065C>T	c.(4063-4065)taC>taT	p.Y1355Y	WDR81_ENST00000545662.1_Intron|WDR81_ENST00000309182.5_Silent_p.Y304Y|WDR81_ENST00000437219.2_Silent_p.Y152Y|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.Y128Y|WDR81_ENST00000446363.1_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	128										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCGTGTACCTCTCAGACA	0.647000													15	16					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5274519	5274519	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5274519G>A	ENST00000380259.2	-	8	1672	c.432C>T	c.(430-432)tcC>tcT	p.S144S	HBG2_ENST00000336906.4_Silent_p.S144S|HBG2_ENST00000380252.1_Silent_p.S134S					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGGTATCTGGAGGACAGGG	0.483000													30	43					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033369	122033369	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:122033369C>T	ENST00000334010.7	-	20	3304	c.2882_splice	c.e20-1	p.K961_splice	RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000449022.2_Splice_Site_p.K963_splice|CADPS2_ENST00000412584.2_Intron|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Intron	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	963	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGGCGATATTCCTGTAAAGAA	0.458000													19	42					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273110	205273110	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:205273110G>A	ENST00000367157.3	-	7	1481	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	452					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCGCTGTCGGGGCTTCTTGAG	0.642000													3	22					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72040924	72040924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:72040924G>A	ENST00000355327.3	+	14	2540	c.2406G>A	c.(2404-2406)tgG>tgA	p.W802*	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Nonsense_Mutation_p.W802*|THSD4_ENST00000357769.4_Nonsense_Mutation_p.W442*			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	802	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCACCGAGTGGAGCGAAAGGG	0.567000													4	15					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212144	26212144	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:26212144C>T	ENST00000379034.1	+	2	330	c.181C>T	c.(181-183)Cct>Tct	p.P61S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	61	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGCCTCCATTCCTCAGGAGTC	0.532000													25	17					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5892008	5892008	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:5892008G>A	ENST00000581347.1	-	3	700	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C			A6NKL6	T200C_HUMAN	transmembrane protein 200C	19						integral to membrane		p.R19S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGGGGGCGGAGTGGATCC	0.607000													8	21					0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309897	22309897	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22309897C>T	ENST00000390433.1	+	0	281																											CAGTATATTTCCCTGCTCATC	0.493000													34	100					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365689	7365689	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7365689G>A	ENST00000311403.4	-	4	2951	c.2612C>T	c.(2611-2613)cCt>cTt	p.P871L	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P871L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTCCTGCACAGGTGGGTATAC	0.632000													8	41					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685224	125685224	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:125685224C>T	ENST00000371126.1	-	1	1610	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	456										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGCATAGTTCCCATGGAGGC	0.547000													39	32					0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46321636	46321636	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:46321636G>A	ENST00000529193.1	+	2	704	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CREB3L1_ENST00000288400.3_Missense_Mutation_p.E85K			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	85					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CATCCAGGCGGAGCACAGCTA	0.587000			T	FUS	myxofibrosarcoma								9	10					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294948	5294948	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:5294948G>A	ENST00000546004.1	-	2	314	c.68C>T	c.(67-69)tCc>tTc	p.S23F	PROKR2_ENST00000217270.3_Missense_Mutation_p.S23F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	23						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.S23F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAAGGAGAGGGAGGAGGCATG	0.498000										HNSCC(71;0.22)			56	63					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74327700	74327700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:74327700C>T	ENST00000409262.3	+	9	3380	c.3380C>T	c.(3379-3381)tCc>tTc	p.S1127F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1127							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCTACCACTCCTACTATGCA	0.577000													6	10					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80040926	80040926	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:80040926G>A	ENST00000306749.2	-	33	5849	c.5631C>T	c.(5629-5631)tcC>tcT	p.S1877S	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1877	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGAAGGTCTTGGAGATGGCCG	0.642000													32	36					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605745	171605745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:171605745G>A	ENST00000037502.5	-	3	894	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	279	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGGTGTAGGGGTAGGTGGGC	0.537000													23	47					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501943	140501943	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140501943G>A	ENST00000194152.1	+	1	363	c.363G>A	c.(361-363)ttG>ttA	p.L121L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		121	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATTATTGATCCAGGACA	0.428000													24	45					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063026	21063026	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:21063026C>T	ENST00000261383.3	-	29	4202	c.4203G>A	c.(4201-4203)cgG>cgA	p.R1401R	DNAH3_ENST00000415178.1_Silent_p.R1401R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGATCACCAGCCGGGGGGAGT	0.572000													23	104					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855405	79855405	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:79855405C>T	ENST00000338682.3	-	5	1106	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	145						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GACCTCTTTCCCTTTTGCCTT	0.403000													45	91					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534024	55534024	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:55534024G>A	ENST00000220676.1	+	2	646	c.498G>A	c.(496-498)acG>acA	p.T166T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2.				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)			ACCCGAAGACGAGGCGTGCGG	0.647000													28	84					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277347	186277347	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:186277347G>A	ENST00000367484.3	+	7	1134		c.e7-1		PRG4_ENST00000445192.2_Silent_p.K832K|PRG4_ENST00000367486.3_Silent_p.K789K|PRG4_ENST00000367485.4_Silent_p.K739K|PRG4_ENST00000367483.4_Silent_p.K791K			Q92954	PRG4_HUMAN	proteoglycan 4						cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.K832K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCCAAGGAGCCTGCAC	0.582000													55	141					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207437870	207437870	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:207437870C>T	ENST00000264377.3	+	18	2016	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V	ADAM23_ENST00000374415.3_Missense_Mutation_p.A563V|ADAM23_ENST00000374416.1_Missense_Mutation_p.A563V	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	563	Disintegrin.|May bind the integrin receptor.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGCCGGGATGCTGTGAACGAG	0.363000													67	54					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439634	145439634	+	Silent	SNP	G	G	A	rs149337508	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:145439634G>A	ENST00000511217.1	+	8	1813	c.1761G>A	c.(1759-1761)agG>agA	p.R587R	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.R587R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	587							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCAGCAGGGGCAGTGAGG	0.642000													14	36					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678767	3678767	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:3678767T>C	ENST00000344754.4	-	8	1799	c.1800A>G	c.(1798-1800)caA>caG	p.Q600Q	SIGLEC1_ENST00000202578.4_Silent_p.Q600Q	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	600					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGAATGTTGGTTGTCGAGGGG	0.652000													4	11					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154513649	154513649	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:154513649A>T	ENST00000409959.3	+	18	1884	c.1835A>T	c.(1834-1836)aAc>aTc	p.N612I	KIAA0922_ENST00000440693.1_Intron|KIAA0922_ENST00000409663.3_Missense_Mutation_p.N611I	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	611						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTGGTGCAGAACCCGTCCTCT	0.507000													17	37					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259976	215259976	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:215259976C>T	ENST00000444842.2	+	2	462	c.312C>T	c.(310-312)tcC>tcT	p.S104S	KCNK2_ENST00000391895.2_Silent_p.S100S|KCNK2_ENST00000391894.2_Silent_p.S89S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	104							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CATTCATATCCCAACATTCCT	0.458000													24	89					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476846	120476846	+	Missense_Mutation	SNP	G	G	A	rs55751501		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:120476846G>A	ENST00000355622.6	+	3	2541	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A774T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	814	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.A814T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACTCAGAAAAGCCCTGCTGGA	0.512000													39	101					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973101	77973101	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:77973101C>T	ENST00000354212.4	-	9	1655	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	MAGI2_ENST00000536571.1_Missense_Mutation_p.E300K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E305K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E468K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E468K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	468	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTACCTGTTTCCATTTTTCCA	0.408000													23	51					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823624	114823624	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:114823624G>A	ENST00000315366.7	-	2	2472	c.1606C>T	c.(1606-1608)Ccc>Tcc	p.P536S	ARSJ_ENST00000541197.1_Missense_Mutation_p.P536S	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	536						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TCTTTGGGGGGATACCTGACC	0.498000													18	33					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141683	29141683	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29141683A>T	ENST00000377167.2	+	1	373	c.271A>T	c.(271-273)Aag>Tag	p.K91*		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GGGCCCGGAAAAGACCATCTC	0.473000													43	136					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926588	61926588	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:61926588C>T	ENST00000280772.1	-	22	2736	c.2545G>A	c.(2545-2547)Gat>Aat	p.D849N	ANK3_ENST00000503366.1_Missense_Mutation_p.D832N|ANK3_ENST00000373827.2_Missense_Mutation_p.D843N|ANK3_ENST00000460468.1_Missense_Mutation_p.D16N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	849					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATACCTTCATCATCAGACATA	0.333000													10	24					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90246318	90246318	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:90246318C>T	ENST00000268130.7	+	3	542	c.441C>T	c.(439-441)tcC>tcT	p.S147S	WDR93_ENST00000558000.1_Silent_p.S147S|WDR93_ENST00000560294.1_Silent_p.S147S	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	147					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGTCACTTCCATCTGGGCCA	0.393000													37	85					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153065807	153065807	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:153065807G>A	ENST00000285900.5	+	8	1395	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	GRIA1_ENST00000521843.2_Missense_Mutation_p.G282E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G271E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G351E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G361E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G361E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	351					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTTTAACAGGAAACGTGCAG	0.443000													27	48					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325117	162325117	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:162325117G>A	ENST00000361897.5	+	7	1138	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	NOS1AP_ENST00000530878.1_Missense_Mutation_p.E241K	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	246					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGTAGGGAAGGAAGGAGGCTC	0.557000													19	70					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141785	133141785	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:133141785G>T	ENST00000388996.4	-	15	2763	c.2343C>A	c.(2341-2343)agC>agA	p.S781R	KCNQ3_ENST00000521134.1_Missense_Mutation_p.S661R|KCNQ3_ENST00000519445.1_Missense_Mutation_p.S769R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	781					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTCGCGTGATGCTACGTCTCT	0.602000													10	33					1.36491e-13	1.38783e-13	1	1	0
AGRN	375790	broad.mit.edu	37	1	978980	978980	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:978980C>T	ENST00000379370.2	+	9	1716	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	556	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTGCGTGTGCCCCTCTGAATG	0.677000													17	46					0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22508843	22508843	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22508843G>A	ENST00000390448.3	+	0	4																											CTAAGATACAGAAGTGGCGCC	0.388000													15	20					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169572730	169572730	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:169572730C>T	ENST00000316428.5	-	6	919	c.862G>A	c.(862-864)Gat>Aat	p.D288N	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.D288N|LRRC31_ENST00000264676.5_Missense_Mutation_p.D232N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	288										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CAGGAAAGATCTAATTTCCTC	0.458000													20	44					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11101606	11101606	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:11101606G>A	ENST00000403050.3	+	16	3000	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	PHF14_ENST00000445996.2_Missense_Mutation_p.E565K	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	850							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGTTCCTAGAGAGAGAAGACA	0.353000													6	7					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57750513	57750513	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:57750513G>A	ENST00000274289.3	-	14	2255	c.1955C>T	c.(1954-1956)tCt>tTt	p.S652F	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	652	POLO box 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GAAAGTTGTAGATATCCTATC	0.353000													21	44					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72967180	72967180	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:72967180C>T	ENST00000361138.5	+	25	3297	c.3239C>T	c.(3238-3240)cCa>cTa	p.P1080L		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1080					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ATGCTGGAACCAAACACATGG	0.373000													26	74					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869564	36869564	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:36869564G>A	ENST00000279024.4	-	3	1240	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	323										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGCCTCTGAGAGAGGCAGTA	0.507000													116	142					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86948026	86948026	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:86948026G>A	ENST00000234701.3	+	6	1047	c.696G>A	c.(694-696)acG>acA	p.T232T	CLCA1_ENST00000394711.1_Silent_p.T232T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	232					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCCGCCAGACGGAGAAGGCTT	0.428000													25	60					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181047	65181047	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:65181047G>A	ENST00000310045.7	-	2	2302	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	267						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TCAACAATATGATTCAATAGA	0.413000													25	71					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813856	158813856	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158813856C>T	ENST00000368141.4	+	4	775	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	172					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGCTGTGGATCATCCCCCACT	0.493000													28	111					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29259573	29259573	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:29259573G>A	ENST00000379558.4	+	18	2936	c.2585G>A	c.(2584-2586)gGg>gAg	p.G862E	FAM179A_ENST00000403861.2_Missense_Mutation_p.G807E|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	862							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAGAACTCAGGGATTTACGCT	0.572000													12	24					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													4	63					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140515442C>T	ENST00000231134.5	+	1	643	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		142	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAAAATCCCAGAGAGCA	0.438000													20	64					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422615	26422615	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:26422615C>T	ENST00000335473.7	+	43	6925	c.6675C>T	c.(6673-6675)tcC>tcT	p.S2225S	MYO18B_ENST00000536101.1_Silent_p.S2225S|MYO18B_ENST00000407587.2_Silent_p.S2226S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2225						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACCTGCTTCCTCTCCCCTGG	0.567000													9	28					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67424654	67424654	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:67424654T>G	ENST00000357692.2	+	7	771	c.514T>G	c.(514-516)Tat>Gat	p.Y172D	MIER1_ENST00000355356.3_Missense_Mutation_p.Y155D|MIER1_ENST00000355977.6_Missense_Mutation_p.Y92D|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371018.3_Missense_Mutation_p.Y172D|MIER1_ENST00000401041.1_Missense_Mutation_p.Y208D|MIER1_ENST00000371016.1_Missense_Mutation_p.Y172D|MIER1_ENST00000401042.3_Missense_Mutation_p.Y155D|MIER1_ENST00000371014.1_Missense_Mutation_p.Y208D	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	179	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCGATGTAAATATTTTGATAC	0.338000													8	22					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26446099	26446099	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:26446099C>T	ENST00000244519.2	+	5	844	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	BTN3A3_ENST00000361232.3_Silent_p.L159L|BTN3A3_ENST00000339789.4_Silent_p.L159L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	201	Ig-like V-type 2.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGGAGTGGGCCTGTATGCAGT	0.562000													26	102					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156222867	156222867	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:156222867G>A	ENST00000361813.5	-	18	2649	c.2505C>T	c.(2503-2505)ctC>ctT	p.L835L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	835					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GAGACACTTCGAGCTGGTGAG	0.662000													9	24					0	0	1	0	0
CDK5R2	8941	broad.mit.edu	37	2	219824873	219824873	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:219824873C>T	ENST00000302625.4	+	1	497	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	111					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCCGGGATCCCCCCGACGG	0.746000													4	1					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140992397	140992397	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:140992397G>A	ENST00000389484.3	-	90	14588	c.13617C>T	c.(13615-13617)ccC>ccT	p.P4539P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4539					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ttaggtagatgggcggcgctg	0.423000										TSP Lung(27;0.18)			19	47					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073314	197073314	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:197073314A>G	ENST00000367409.4	-	18	5323	c.5067T>C	c.(5065-5067)gtT>gtC	p.V1689V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1689					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTCATCTTAACAGTTGACT	0.313000													7	27					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795245	100795245	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:100795245C>T	ENST00000361529.3	+	5	588	c.510C>T	c.(508-510)gcC>gcT	p.A170A	SLC25A47_ENST00000557052.1_Silent_p.A24A	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	170					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CCACGGTAGCCCGTGAGGAGG	0.687000													13	38					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990575	47990575	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:47990575C>T	ENST00000371741.4	-	2	1688	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	508					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATCCCTGTTCCTTGGTTTCA	0.443000													102	151					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103984745	103984745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:103984745G>A	ENST00000388887.2	+	2	356	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	51					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCAACCTTGGAGTCAAGTGC	0.423000													22	58					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122414425	122414425	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:122414425C>T	ENST00000474629.2	+	5	1017	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTTTGAAAATCCCTATAATGG	0.378000													4	14					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28652039	28652039	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:28652039C>T	ENST00000328886.4	-	4	507	c.435G>A	c.(433-435)gtG>gtA	p.V145V	TMIGD1_ENST00000538566.2_Silent_p.V145V	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	145	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GGTTGGCTTTCACATTGCAAA	0.428000													31	94					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9615433	9615433	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:9615433C>T	ENST00000570827.2	+	14	2460	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	USP43_ENST00000285199.6_Silent_p.L773L|USP43_ENST00000570475.1_Silent_p.L768L			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	773					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCAACAGCCTCTGCAATCAGG	0.522000													15	24					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207946	140207946	+	Silent	SNP	C	C	T	rs140846988	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140207946C>T	ENST00000529310.1	+	1	384	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.I90I	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.602000													57	161					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65081632	65081632	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:65081632C>T	ENST00000380985.5	+	7	1031	c.853C>T	c.(853-855)Cca>Tca	p.P285S	NLN_ENST00000502464.1_Missense_Mutation_p.P181S	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	285					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GCAGCTACTCCCACTGCGAAC	0.413000													12	28					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147677	6147677	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:6147677C>T	ENST00000588304.1	+	3	584	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ACSBG2_ENST00000586696.1_Silent_p.S96S|ACSBG2_ENST00000591403.1_Silent_p.S96S|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Silent_p.S96S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	96					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGCAAAATCCTTGATCAAGG	0.393000													23	54					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570152	241570152	+	Silent	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:241570152C>A	ENST00000319838.5	+	6	1725	c.783C>A	c.(781-783)acC>acA	p.T261T	GPR35_ENST00000403859.1_Silent_p.T261T|GPR35_ENST00000438013.2_Silent_p.T292T|GPR35_ENST00000430267.1_Silent_p.T261T|GPR35_ENST00000407714.1_Silent_p.T261T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	261						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TGTACATAACCAGCAAGCTCT	0.632000													4	105					1	1	1	1	0
NDUFA13	51079	broad.mit.edu	37	19	19627027	19627027	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:19627027G>A	ENST00000252576.5	+	1	229	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCCGGGACCGGAAGTGTGGGA	0.622000													23	35					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921619	130921619	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:130921619G>A	ENST00000261655.4	-	10	1986	c.1823C>T	c.(1822-1824)cCc>cTc	p.P608L	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P516L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P516L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	608	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTGGTTTCGGGGACTCCAGA	0.642000													7	19					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104067193	104067193	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:104067193G>A	ENST00000265148.3	-	30	4295	c.4206C>T	c.(4204-4206)atC>atT	p.I1402I	CENPE_ENST00000380026.3_Silent_p.I1377I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1402					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTCACTCACGATTTTGGTAG	0.358000													24	61					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28343697	28343697	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:28343697G>A	ENST00000373871.3	-	8	793	c.553C>T	c.(553-555)Cca>Tca	p.P185S	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.P139S|EYA3_ENST00000373864.1_Missense_Mutation_p.P29S|EYA3_ENST00000545175.1_Missense_Mutation_p.P132S|EYA3_ENST00000540618.1_Missense_Mutation_p.P139S|EYA3_ENST00000436342.2_Missense_Mutation_p.P59S			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	185					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGCTGCTGGAATATTGGCA	0.398000													36	76					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172750341	172750341	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:172750341C>T	ENST00000265087.4	-	3	1696	c.387G>A	c.(385-387)agG>agA	p.R129R	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	129					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACACCATTTCCCTGATGGCCG	0.572000													14	16					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249241	20249241	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20249241G>A	ENST00000315957.4	+	1	841	c.760G>A	c.(760-762)Ggg>Agg	p.G254R		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTAATGTTTGGGCCATCCAT	0.438000													28	253					0	0	1	0	0
MRGPRF	116535	broad.mit.edu	37	11	68772911	68772911	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:68772911G>A	ENST00000309099.6	-	3	1249	c.867C>T	c.(865-867)atC>atT	p.I289I	MRGPRF_ENST00000441623.1_Silent_p.I289I	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	289						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAAGTAGACGATGGGCTTGG	0.662000													4	7					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114135609	114135609	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:114135609C>T	ENST00000259335.4	-	41	4788	c.4789G>A	c.(4789-4791)Ggc>Agc	p.G1597S	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.G1419S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACTAAATGGCCCATAGCAAAT	0.358000													30	85					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952241	952241	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:952241G>A	ENST00000264771.4	+	11	1657	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D	TMEM175_ENST00000515740.1_Missense_Mutation_p.G375D|TMEM175_ENST00000508204.1_Missense_Mutation_p.G409D	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	491						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCCCACGGGCCAGGACGAC	0.731000													4	6					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413547	124413547	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:124413547C>T	ENST00000306842.2	-	1	28	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTTTGGCTGCCATTCTTTTT	0.493000													21	28					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46393886	46393886	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:46393886G>A	ENST00000322217.5	-	3	1281	c.1195C>T	c.(1195-1197)Ccg>Tcg	p.P399S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	399						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						AGATTTCACGGAGATTTCCAT	0.642000													16	33					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25601062	25601062	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:25601062G>A	ENST00000232165.3	-	9	2757	c.2101C>T	c.(2101-2103)Cca>Tca	p.P701S	UBE3A_ENST00000566215.1_Missense_Mutation_p.P681S|UBE3A_ENST00000438097.1_Missense_Mutation_p.P681S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.P704S|UBE3A_ENST00000428984.2_Missense_Mutation_p.P681S	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	704					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTGTAATTGGAATTTTATCA	0.299000													21	41					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885114	2885114	+	Missense_Mutation	SNP	G	G	A	rs147386217		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:2885114G>A	ENST00000254528.3	+	3	569	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	137					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCTCGGCCTCGAAACAGCTTG	0.512000													22	54					0	0	1	0	0
TRAV10	28676	broad.mit.edu	37	14	22294115	22294115	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22294115C>T	ENST00000390432.2	+	0	255																											TCATGACTTTCAGTGAGAACA	0.468000													29	58					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9202503	9202503	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:9202503A>G	ENST00000328194.3	-	6	1586	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	DENND5A_ENST00000530044.1_Silent_p.P422P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	422										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GATTCCCTTCAGGGGGAATTC	0.517000													23	73					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835398	172835398	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:172835398C>T	ENST00000351008.3	-	2	307	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	42					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTGACATTTCCAGGATGTTA	0.378000													68	160					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29385344	29385344	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:29385344C>T	ENST00000558402.1	+	8	1735	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	APBA2_ENST00000561069.1_Missense_Mutation_p.S379F|APBA2_ENST00000558259.1_Missense_Mutation_p.S379F|APBA2_ENST00000558330.1_Missense_Mutation_p.S379F|APBA2_ENST00000411764.1_Missense_Mutation_p.S379F			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	379	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TACCTGGGGTCCACCCAGCTG	0.567000													25	59					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187247	123187247	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:123187247A>G	ENST00000328880.5	-	1	643	c.584T>C	c.(583-585)cTg>cCg	p.L195P	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	195					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GAAGAACTCCAGGAGGAACAT	0.537000													26	62					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561409	142561409	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142561409G>A	ENST00000392957.2	+	6	908	c.121G>A	c.(121-123)Gga>Aga	p.G41R	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G41R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	41						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACACCACCGGAGAGACATC	0.597000													9	64					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24647306	24647306	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:24647306C>T	ENST00000311457.3	+	13	1470	c.871C>T	c.(871-873)Cca>Tca	p.P291S	REC8_ENST00000559919.1_Missense_Mutation_p.P291S			O95072	REC8_HUMAN	REC8 meiotic recombination protein	292	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GAGGAGGCCCCCAGTCCCCCC	0.612000													14	43					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737871	152737871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:152737871C>T	ENST00000367255.5	-	41	6302	c.5701G>A	c.(5701-5703)Gag>Aag	p.E1901K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E1938K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1908K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1901K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1908K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1901					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAATCAGACTCGTTCTTATTC	0.473000										HNSCC(10;0.0054)			11	32					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620525	7620525	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:7620525C>T	ENST00000486284.1	+	8	2206	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	GRM7_ENST00000403881.1_Silent_p.F644F|GRM7_ENST00000357716.4_Silent_p.F644F|GRM7_ENST00000402647.2_Silent_p.F644F|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.F644F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	644					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCATCACTTTCCTGATGATTG	0.488000													31	82					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90401139	90401139	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:90401139C>T	ENST00000337338.5	+	3	2919	c.2512C>T	c.(2512-2514)Ctg>Ttg	p.L838L	LRRC8D_ENST00000394593.3_Silent_p.L838L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	838						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TTTTGATACCCTGCCACTCGA	0.473000													24	57					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97956719	97956719	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:97956719C>T	ENST00000224337.5	-	16	1337	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	BLNK_ENST00000371176.2_Missense_Mutation_p.R376Q|BLNK_ENST00000413476.2_Intron|BLNK_ENST00000427367.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	399	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TTCAATAAATCGCACAGGAAT	0.333000													13	31					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25821477	25821477	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:25821477G>A	ENST00000399878.3	-	8	1498	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	SEL1L3_ENST00000502949.1_Missense_Mutation_p.S306F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S424F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	459						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGCATACACAGATACTATTTC	0.418000													5	16					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90024571	90024571	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:90024571G>A	ENST00000405460.2	+	49	10343	c.10247G>A	c.(10246-10248)gGa>gAa	p.G3416E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3416					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAACAAGGGAGGCTCTGTG	0.488000													67	86					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554769	40554769	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:40554769G>A	ENST00000297737.6	-	4	490	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ZMAT4_ENST00000315769.7_Missense_Mutation_p.T115I	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	115						nucleus	DNA binding|zinc ion binding	p.T115I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CGTACCTGTGGTCTTTAATGG	0.507000													30	95					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521133	23521133	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:23521133G>A	ENST00000296682.3	+	6	535	c.351_splice	c.e6-1	p.G118_splice		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	118					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACATTAAAGGGAATGCCCAAG	0.373000										HNSCC(3;0.000094)			17	15					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38855823	38855823	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:38855823C>T	ENST00000264651.2	-	6	1290	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	412	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAGATCTCCTCCTCCAGGGCA	0.527000													43	83					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155764464	155764464	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:155764464G>A	ENST00000159060.2	-	5	531	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	143	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGCCCAGCTTGGAAAGTGCGG	0.572000													13	43					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870027	4870027	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4870027G>A	ENST00000322101.2	-	1	487	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGTAGTGGAGAGGTCGGCAG	0.522000													35	99					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7034516	7034516	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:7034516G>A	ENST00000389658.3	-	14	2106	c.2013C>T	c.(2011-2013)atC>atT	p.I671I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	671	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTTGGCTCTGATCAAAAGAT	0.383000													10	32					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561831	145561831	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:145561831G>A	ENST00000355594.4	+	10	1606	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	507										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGAGAAAAGGATGCTGCCCG	0.622000													41	115					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118639110	118639110	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:118639110C>T	ENST00000392533.3	-	12	1468	c.978G>A	c.(976-978)gaG>gaA	p.E326E	TAOK3_ENST00000419821.2_Silent_p.E326E	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	326					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCCTCATCCTCCTGTGACT	0.378000													19	36					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156882111	156882111	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:156882111C>T	ENST00000338302.3	+	17	2249	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P675L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	675	EGF-like 9.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCTGCCATCCCCAGGATGGG	0.597000													11	26					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027218	79027218	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:79027218C>T	ENST00000446378.2	+	2	2661	c.2630C>T	c.(2629-2631)tCt>tTt	p.S877F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	877						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCACCCCATCTGAATATGTT	0.473000													16	30					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463421	26463421	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:26463421G>A	ENST00000265944.5	+	30	4394	c.4228G>A	c.(4228-4230)Gat>Aat	p.D1410N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1410					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGAAGAAGGATAACAAAGA	0.323000													27	54					0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72643491	72643491	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:72643491G>A	ENST00000268097.5	-	6	1158	c.655C>T	c.(655-657)Cca>Tca	p.P219S	HEXA_ENST00000567159.1_Missense_Mutation_p.P219S|HEXA_ENST00000429918.2_Missense_Mutation_p.P46S|HEXA_ENST00000457859.2_Missense_Mutation_p.P27S|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.P230S	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	219					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATGAGCTCTGGAAAAGTGAAG	0.468000													21	40					0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81319108	81319108	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:81319108C>T	ENST00000372325.2	-	3	216	c.132G>A	c.(130-132)agG>agA	p.R44R	SFTPA2_ENST00000372327.5_Silent_p.R44R	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	44	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTCTCCCGTCCCTGCCTGGCA	0.622000									Pulmonary Fibrosis, Idiopathic				12	103					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58271584	58271584	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:58271584A>T	ENST00000340635.6	-	14	2088	c.1913T>A	c.(1912-1914)aTa>aAa	p.I638K	PDE4D_ENST00000503258.1_Missense_Mutation_p.I508K|PDE4D_ENST00000546160.1_Missense_Mutation_p.I577K|PDE4D_ENST00000405755.2_Missense_Mutation_p.I516K|PDE4D_ENST00000502484.2_Missense_Mutation_p.I577K|PDE4D_ENST00000317118.8_Missense_Mutation_p.I347K|PDE4D_ENST00000507116.1_Missense_Mutation_p.I574K|PDE4D_ENST00000360047.5_Missense_Mutation_p.I502K|PDE4D_ENST00000358923.6_Missense_Mutation_p.I336K	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	638					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CTCCTCCATTATCCGGTCCGT	0.512000													16	47					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100368843	100368843	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:100368843C>T	ENST00000281806.2	-	6	1310	c.996G>A	c.(994-996)atG>atA	p.M332I	MCHR2_ENST00000445970.1_Missense_Mutation_p.M332I|MCHR2_ENST00000369212.1_Missense_Mutation_p.M332I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	332						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GAGTGTTTCCCATATTGTTGA	0.408000													22	47					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30722902	30722902	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:30722902C>T	ENST00000262518.4	+	11	1714	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	SRCAP_ENST00000395059.2_Silent_p.S443S|SRCAP_ENST00000344771.4_Silent_p.S443S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	443	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTGAGCTTTCCATGGAGGAGC	0.493000													23	69					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14080838	14080838	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:14080838G>T	ENST00000254325.4	-	10	1698	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	488					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGGCCCATGAAGACGGAGC	0.647000													17	35					8.34094e-07	8.43231e-07	1	1	0
ZNF461	92283	broad.mit.edu	37	19	37130221	37130221	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:37130221A>G	ENST00000588268.1	-	6	1253	c.1026T>C	c.(1024-1026)ttT>ttC	p.F342F	ZNF461_ENST00000360357.4_Silent_p.F319F|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CAGTAAGTTGAAAGCCACGAA	0.408000													6	17					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71361903	71361903	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:71361903C>T	ENST00000244230.2	+	4	1426	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	MPHOSPH10_ENST00000498451.2_Silent_p.S358S	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	358					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAGTTAAATCCTCCTTTGAAA	0.294000													22	66					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169099099	169099099	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:169099099T>G	ENST00000359299.3	+	8	779	c.593T>G	c.(592-594)aTc>aGc	p.I198S		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	198							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CTGCAAATGATCCTGTGCAAC	0.473000													18	64					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8375972	8375972	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:8375972T>C	ENST00000381196.4	-	36	5168	c.4625A>G	c.(4624-4626)aAc>aGc	p.N1542S	PTPRD_ENST00000537002.1_Missense_Mutation_p.N1132S|PTPRD_ENST00000486161.1_Missense_Mutation_p.N1135S|PTPRD_ENST00000358503.5_Missense_Mutation_p.N1520S|PTPRD_ENST00000397617.3_Missense_Mutation_p.N1135S|PTPRD_ENST00000356435.5_Missense_Mutation_p.N1542S|PTPRD_ENST00000540109.1_Missense_Mutation_p.N1542S|PTPRD_ENST00000355233.5_Missense_Mutation_p.N1136S|PTPRD_ENST00000397611.3_Missense_Mutation_p.N1132S|PTPRD_ENST00000397606.3_Missense_Mutation_p.N1135S|PTPRD_ENST00000360074.4_Missense_Mutation_p.N1529S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1542	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCGGGAGGGTTACAGGTTTT	0.468000										TSP Lung(15;0.13)			23	43					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723761	142723761	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142723761G>A	ENST00000350513.2	-	1	521	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGATGGGCCAGATTTCAGAAA	0.418000													16	41					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053784	120053784	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:120053784C>A	ENST00000313400.4	-	2	551	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	ASTN2_ENST00000361209.2_Missense_Mutation_p.G151C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G151C			O75129	ASTN2_HUMAN	astrotactin 2	151						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCTGCTGTGCCAGACATCTCT	0.597000													4	45					0.150653	0.150965	1	1	0
MRC2	9902	broad.mit.edu	37	17	60768087	60768087	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:60768087G>A	ENST00000303375.5	+	27	4379	c.3977G>A	c.(3976-3978)cGg>cAg	p.R1326Q	MRC2_ENST00000446119.2_Missense_Mutation_p.R192Q	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1326	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGCCAGAGTCGGGGCGCCTGG	0.602000													10	64					0	0	1	0	0
ZNRD1	30834	broad.mit.edu	37	6	30029353	30029353	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:30029353G>A	ENST00000332435.5	+	1	323	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ZNRD1_ENST00000376785.2_Missense_Mutation_p.D18N|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1_ENST00000376782.2_Missense_Mutation_p.D18N|ZNRD1_ENST00000359374.4_Missense_Mutation_p.D18N	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	18						nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding										GTCGGACCTGGATTTCTGTTC	0.537000													19	72					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75441953	75441953	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:75441953G>A	ENST00000549446.1	-	4	2440	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	KCNC2_ENST00000550433.1_Missense_Mutation_p.S587F|KCNC2_ENST00000341669.3_Missense_Mutation_p.S587F|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000393288.2_Missense_Mutation_p.S587F|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Missense_Mutation_p.S587F|KCNC2_ENST00000298972.1_Missense_Mutation_p.S587F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	587					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCCTCCATCAGAAGCACACGT	0.443000													28	85					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239121	45239121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:45239121G>A	ENST00000279027.4	-	3	523	c.505C>T	c.(505-507)Cga>Tga	p.R169*	SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.R122*|SLC13A3_ENST00000339636.3_Nonsense_Mutation_p.R169*|SLC13A3_ENST00000417157.2_Nonsense_Mutation_p.R122*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.R122*|SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.R169*|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.R122*|SLC13A3_ENST00000372121.1_Nonsense_Mutation_p.R169*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.R122*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	169						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGTCCTTTCGAACCTCCTTC	0.542000													129	169					0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3343612	3343612	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:3343612C>T	ENST00000573128.1	-	9	1404	c.921G>A	c.(919-921)ctG>ctA	p.L307L	SPATA22_ENST00000397168.3_Silent_p.L307L|SPATA22_ENST00000575375.1_Silent_p.L307L|SPATA22_ENST00000541913.1_Silent_p.L291L|SPATA22_ENST00000355380.4_Silent_p.L264L|SPATA22_ENST00000572969.1_Silent_p.L307L|SPATA22_ENST00000268981.5_3'UTR			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	307										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GGCCTCTAATCAGTCTCGGAA	0.328000													12	38					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90040914	90040914	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:90040914C>T	ENST00000405460.2	+	51	10697	c.10601C>T	c.(10600-10602)tCg>tTg	p.S3534L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3534					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCTGGAATTCGGAGCGTAAT	0.388000													76	325					0	0	1	0	0
MRPL41	64975	broad.mit.edu	37	9	140446713	140446713	+	Silent	SNP	C	C	T	rs12834		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:140446713C>T	ENST00000371443.5	+	2	968	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	60					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TCCCGGAGTTCGTCGTCCCGG	0.677000													8	26					0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57147028	57147028	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:57147028G>A	ENST00000287143.2	-	3	423	c.314C>T	c.(313-315)cCa>cTa	p.P105L		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	105					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CTTGCACCTTGGACTTCCCTG	0.532000													27	81					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43931847	43931847	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:43931847G>A	ENST00000396879.1	-	7	823	c.711C>T	c.(709-711)gcC>gcT	p.A237A	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Silent_p.A243A|CATSPER2_ENST00000355438.2_Silent_p.A237A|CATSPER2_ENST00000321596.5_Silent_p.A237A|CATSPER2_ENST00000354127.4_Silent_p.A237A			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	237					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCACCTTGAGGGCCCTGACCA	0.478000													56	130					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335034	78335034	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:78335034C>T	ENST00000466548.1	+	7	1446	c.1420C>T	c.(1420-1422)Ctt>Ttt	p.L474F	SLAIN1_ENST00000314070.5_Missense_Mutation_p.L97F|SLAIN1_ENST00000418532.1_Missense_Mutation_p.L255F|SLAIN1_ENST00000351546.3_Missense_Mutation_p.L211F|SLAIN1_ENST00000358679.3_Missense_Mutation_p.L211F|SLAIN1_ENST00000267219.8_Missense_Mutation_p.L255F|SLAIN1_ENST00000488699.1_Missense_Mutation_p.L332F	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	474										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CCGACAGCCTCTTAAAGCCAC	0.498000													31	53					0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387672	3387672	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:3387672C>T	ENST00000011898.5	+	4	310	c.149C>T	c.(148-150)tCg>tTg	p.S50L	TSPAN9_ENST00000537971.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000407263.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	50						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGCTTCCCTTCGTTGTCTGCA	0.592000													27	82					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2255563	2255563	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2255563C>T	ENST00000378531.3	-	13	1443	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	424										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCCTGCTCCTCCGTGGCTCTC	0.677000													3	5					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377833	44377833	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44377833C>T	ENST00000587539.1	-	3	532	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	ZNF404_ENST00000324394.6_Missense_Mutation_p.R176Q	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GTGGATTTTTCGATGTCTAAT	0.368000													24	48					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206651675	206651675	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:206651675C>T	ENST00000367120.3	+	9	1358	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.H244Y	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	329					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TATCCATGCCCACAACACGTA	0.562000													42	124					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433255	73433255	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:73433255G>A	ENST00000263666.4	-	10	2576	c.2462C>T	c.(2461-2463)aCc>aTc	p.T821I	PDZRN3_ENST00000535920.1_Missense_Mutation_p.T543I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T478I|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T538I|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T478I	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	821							ubiquitin-protein ligase activity|zinc ion binding	p.T821N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGGCTATAGGTAGGGGTGCC	0.657000													20	59					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72306183	72306183	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:72306183C>T	ENST00000579490.1	+	10	1681	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	DNAI2_ENST00000582036.1_Intron|DNAI2_ENST00000446837.2_Missense_Mutation_p.R459W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R316W|DNAI2_ENST00000311014.6_Missense_Mutation_p.R459W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	459					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTTCTGCCTCCGGGTGCAGGA	0.607000									Kartagener syndrome				21	53					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724953	7724953	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:7724953C>T	ENST00000303635.7	+	9	2553	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	CAMTA1_ENST00000439411.2_Silent_p.S782S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S782S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTTCATCTCCGTGGAGGGGG	0.637000			T	WWTR1	epitheliod hemangioendothelioma								93	178					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160474333	160474333	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:160474333G>A	ENST00000498165.1	+	1	338	c.237G>A	c.(235-237)gaG>gaA	p.E79E	PPM1L_ENST00000497343.1_Silent_p.E79E	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	79					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATGTGCTCGAGGCCGAGTTTT	0.582000													12	24					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69348921	69348921	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:69348921C>T	ENST00000370598.1	+	3	1175	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	118	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAATGCTTTCGTTTTTCTAC	0.308000													6	18					0	0	1	0	0
MIR519B	574469	broad.mit.edu	37	19	54198488	54198488	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:54198488G>A	ENST00000385090.1	+	0	22					NR_030191.1																						CCTCTAGAGGGAAGCGCTTTC	0.403000													29	48					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9337893	9337893	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:9337893C>T	ENST00000382496.5	-	4	821	c.156G>A	c.(154-156)gcG>gcA	p.A52A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	52	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGCATTCTTCGCTCTGAACT	0.373000													12	38					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838414	31838414	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31838414G>A	ENST00000544672.1	-	11	1071	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	SLC44A4_ENST00000375562.4_Missense_Mutation_p.R293C|SLC44A4_ENST00000229729.6_Missense_Mutation_p.R335C	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	335						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ATGGCAATACGAATCCGCTGC	0.617000													33	111					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588593	140588593	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140588593A>C	ENST00000239450.2	+	1	303	c.114A>C	c.(112-114)gaA>gaC	p.E38D	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		38	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATGGAGGAATTGCAGAGCG	0.522000													38	75					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1542573	1542573	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:1542573G>A	ENST00000389470.4	-	4	696	c.697C>T	c.(697-699)Ccg>Tcg	p.P233S	INTS1_ENST00000404767.3_Missense_Mutation_p.P105S			Q8N201	INT1_HUMAN	integrator complex subunit 1	105					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTAATCGACGGAGAAATGGCT	0.577000													32	80					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329169	51329169	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:51329169G>A	ENST00000326856.4	-	6	780	c.651C>T	c.(649-651)atC>atT	p.I217I	KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000598239.1_Silent_p.I218I|KLK15_ENST00000416184.1_Silent_p.I133I	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	218	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCCCTGCAGGATGCCCCCAC	0.557000													8	30					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77343254	77343254	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:77343254C>T	ENST00000451710.3	-	37	6085	c.5848G>A	c.(5848-5850)Gga>Aga	p.G1950R	TRPM6_ENST00000449912.2_Missense_Mutation_p.G1941R|TRPM6_ENST00000376871.3_Missense_Mutation_p.G783R|TRPM6_ENST00000376872.3_Missense_Mutation_p.G901R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1941R|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1946R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1946	Alpha-type protein kinase.				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						AACACCATTCCTCTTGATCTA	0.428000													10	28					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391605	125391605	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:125391605C>T	ENST00000304833.3	-	1	247	c.210G>A	c.(208-210)gtG>gtA	p.V70V	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCATGTCTATCACAGAGAGGC	0.542000													17	25					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941124	13941124	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:13941124G>A	ENST00000254323.2	+	13	2419	c.2230G>A	c.(2230-2232)Gac>Aac	p.D744N	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.D578N	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	744							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACTGCAGCTGGACACATCGCG	0.627000													14	40					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70156567	70156567	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:70156567C>A	ENST00000388768.2	-	4	799	c.473G>T	c.(472-474)cGt>cTt	p.R158L	RUFY2_ENST00000454950.2_Missense_Mutation_p.R65L|RUFY2_ENST00000602465.1_Missense_Mutation_p.R123L|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Missense_Mutation_p.R123L|RUFY2_ENST00000399200.2_Intron	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	172	RUN.					nucleus	metal ion binding	p.R158H(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTAAGCAACGTAAGTAATC	0.368000													12	30					0.105934	0.106263	1	1	0
SNRPN	6638	broad.mit.edu	37	15	25223559	25223559	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:25223559C>A	ENST00000444203.2	+	8	1742	c.703C>A	c.(703-705)Cct>Act	p.P235T	SNRPN_ENST00000390687.4_Missense_Mutation_p.P231T|SNRPN_ENST00000554227.2_Missense_Mutation_p.P235T|SNRPN_ENST00000400098.1_Missense_Mutation_p.P231T|SNRPN_ENST00000400097.1_Missense_Mutation_p.P231T|SNRPN_ENST00000577565.1_Missense_Mutation_p.P231T|SNRPN_ENST00000400100.1_Missense_Mutation_p.P231T|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.P231T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	231	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TCCAGGTCCACCTCCCCCAGG	0.463000									Prader-Willi syndrome				42	133					1.03325e-14	1.05114e-14	1	1	0
CYB5A	1528	broad.mit.edu	37	18	71930615	71930615	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:71930615G>A	ENST00000340533.4	-	2	367	c.227C>T	c.(226-228)tCc>tTc	p.S76F	CYB5A_ENST00000397914.4_Missense_Mutation_p.S76F|CYB5A_ENST00000299438.9_Missense_Mutation_p.S2F	NM_001914.3|NM_148923.3	NP_001905.1|NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	76	Cytochrome b5 heme-binding.				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	GAATGTTTTGGACATTTCCCT	0.463000													16	35					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619503	52619503	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:52619503G>A	ENST00000600228.1	-	4	1175	c.914C>T	c.(913-915)tCc>tTc	p.S305F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTGACTAAAGGATTTCCCACA	0.408000													15	42					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7267773	7267773	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:7267773G>A	ENST00000341500.5	-	2	274	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	INSR_ENST00000302850.5_Missense_Mutation_p.P79S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	79					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGAGTTTGGGGAAACTGAGG	0.512000													164	346					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48097181	48097181	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:48097181G>A	ENST00000264316.4	-	7	645	c.560C>T	c.(559-561)tCc>tTc	p.S187F	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	187	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CATAAATACGGAAATTGTGTA	0.348000													12	24					0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63542262	63542262	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:63542262G>A	ENST00000478300.1	+	4	664	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SYNPR_ENST00000479198.1_Missense_Mutation_p.E65K|SYNPR_ENST00000460711.1_Missense_Mutation_p.E76K|SYNPR_ENST00000295894.5_Missense_Mutation_p.E65K|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000465156.1_Missense_Mutation_p.E65K	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	65	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CGAGGGAAAGGAACGGCAGAA	0.483000													10	30					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790275	4790275	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4790275G>A	ENST00000380383.1	-	1	893	c.894C>T	c.(892-894)ccC>ccT	p.P298P	OR51F1_ENST00000343430.3_Silent_p.P291P|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	291						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTCGATGATGGGGTTGAGCA	0.453000													7	51					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533873	31533873	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:31533873G>A	ENST00000215885.3	-	4	1141	c.889C>T	c.(889-891)Cca>Tca	p.P297S		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	297					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGAGGGGCTGGGCTCCGGGAG	0.657000													33	103					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556245	11556245	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:11556245G>A	ENST00000262442.3	+	14	2589	c.2521G>A	c.(2521-2523)Gat>Aat	p.D841N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D841N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	841	Stem (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)		TTCTCTGGATGATCGGCATGA	0.413000													15	27					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45700845	45700845	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:45700845G>A	ENST00000327619.5	+	6	811	c.437G>A	c.(436-438)gGa>gAa	p.G146E	EYA2_ENST00000357410.3_Missense_Mutation_p.G146E|EYA2_ENST00000317304.6_Missense_Mutation_p.G146E	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	146					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCTATCAAGGAGGAAATGGA	0.488000													16	12					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8806976	8806976	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:8806976G>A	ENST00000359865.3	+	11	2664	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	SOGA2_ENST00000306329.11_Missense_Mutation_p.R1160Q|SOGA2_ENST00000400050.3_Missense_Mutation_p.R800Q|SOGA2_ENST00000306285.7_Missense_Mutation_p.R156Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.R800Q|SOGA2_ENST00000518815.1_Missense_Mutation_p.R156Q	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1151																	GAGCGTGCCCGACTACGGCTG	0.637000													11	22					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36030881	36030881	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:36030881C>T	ENST00000373243.2	+	7	2190	c.1807C>T	c.(1807-1809)Cta>Tta	p.L603L	NCDN_ENST00000373253.3_Silent_p.L586L|NCDN_ENST00000356090.4_Silent_p.L603L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	603					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATCCTCTTCCTATCACAGTC	0.632000											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	113					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176316461	176316461	+	Missense_Mutation	SNP	C	C	T	rs143604141	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176316461C>T	ENST00000292432.5	-	8	926	c.835G>A	c.(835-837)Gat>Aat	p.D279N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	279	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCCATCATCGCTGAAGGAG	0.652000													13	41					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132389843	132389843	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:132389843C>T	ENST00000356232.4	+	6	1601	c.529C>T	c.(529-531)Cta>Tta	p.L177L	UBA5_ENST00000494238.2_Silent_p.L121L|UBA5_ENST00000264991.4_Silent_p.L121L|UBA5_ENST00000493720.2_Silent_p.L177L|UBA5_ENST00000473651.1_Silent_p.L177L	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	177					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTGTTGATCTAGTTCTTAG	0.333000													21	45					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220034609	220034609	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220034609G>A	ENST00000455516.2	-	1	145	c.98C>T	c.(97-99)aCc>aTc	p.T33I	SLC23A3_ENST00000409878.3_Missense_Mutation_p.T33I|SLC23A3_ENST00000295738.7_Missense_Mutation_p.T33I|SLC23A3_ENST00000396775.3_5'UTR	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	33					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAAGAGTGGGTGGAGGGATT	0.622000													62	42					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189597878	189597878	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:189597878G>A	ENST00000418709.2	+	11	1403	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	TP63_ENST00000440651.2_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.E365K|TP63_ENST00000392463.2_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Intron	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	tumor protein p63	0					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTCAGGAATGAGCTTGTGGA	0.448000										HNSCC(45;0.13)			25	41					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172135	94172135	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:94172135G>A	ENST00000297689.3	-	2	1276	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	294					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGCCCTTGGGGACCTGTTGCT	0.512000													45	113					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228495064	228495064	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:228495064G>A	ENST00000570156.2	+	57	15243	c.15169G>A	c.(15169-15171)Gtg>Atg	p.V5057M	OBSCN_ENST00000366707.4_Missense_Mutation_p.V1734M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V4100M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V4100M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V1219M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4100					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGCCGTGGTGCAATGGCT	0.647000													15	26					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531195	42531195	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:42531195G>A	ENST00000282030.5	+	4	2186	c.1890G>A	c.(1888-1890)gcG>gcA	p.A630A		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	630						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCAATTTAGCGAAGTTGGCCC	0.512000									Schinzel-Giedion syndrome				16	42					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765107	61765107	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:61765107G>A	ENST00000423902.2	+	30	6424	c.5945G>A	c.(5944-5946)gGg>gAg	p.G1982E	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1982					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCACCTTTGGGGTTATTTTT	0.388000													8	18					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142178084	142178084	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:142178084G>A	ENST00000350721.4	-	43	7455	c.7334C>T	c.(7333-7335)cCt>cTt	p.P2445L	ATR_ENST00000383101.3_Missense_Mutation_p.P2381L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2445	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGTAGGATCAGGGAATGTTCT	0.343000								Other conserved DNA damage response genes					7	21					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974676	79974676	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:79974676G>A	ENST00000306729.7	+	15	1785	c.1687_splice	c.e15-1	p.G563_splice	ASPSCR1_ENST00000580534.1_Splice_Site_p.G417_splice|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Splice_Site_p.G469_splice	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	469							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTCCCTGCAGGTGTCTACCTG	0.672000			T	TFE3	alveolar soft part sarcoma								19	19					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124351299	124351299	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:124351299G>A	ENST00000360013.3	+	35	5336	c.5209G>A	c.(5209-5211)Ggc>Agc	p.G1737S	KALRN_ENST00000428018.2_Missense_Mutation_p.G40S|KALRN_ENST00000393496.1_Missense_Mutation_p.G110S|KALRN_ENST00000291478.4_Missense_Mutation_p.G40S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1737					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGAGAATGGAGGCAAGTCCGA	0.577000													21	58					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149378	142149378	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142149378G>A	ENST00000390372.3	-	0	21																											CCCAGCAGAGGAGCCCAGGGC	0.592000													12	34					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132081940	132081940	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:132081940C>T	ENST00000374786.1	+	3	904	c.425C>T	c.(424-426)tCt>tTt	p.S142F	NTM_ENST00000374791.3_Missense_Mutation_p.S142F|NTM_ENST00000539799.1_Missense_Mutation_p.S142F|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.S142F|NTM_ENST00000427481.2_Missense_Mutation_p.S133F|NTM_ENST00000425719.2_Missense_Mutation_p.S142F	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	142	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.S142F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTAGAGATTTCTTCAGATATC	0.393000													10	42					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62198490	62198490	+	Missense_Mutation	SNP	C	C	T	rs114630740	by1000genomes	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:62198490C>T	ENST00000467148.1	-	6	2290	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E172K	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGGTAGTTCTCGTGGAAGACC	0.672000													19	89					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799163	5799163	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5799163C>T	ENST00000317093.2	-	1	734	c.702G>A	c.(700-702)gcG>gcA	p.A234A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A234A(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAGGCTGATCGCTGCCTTGA	0.438000													23	41					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171236837	171236837	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:171236837C>T	ENST00000354841.4	+	2	419	c.288C>T	c.(286-288)aaC>aaT	p.N96N	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.N96N|FMO1_ENST00000402921.2_Intron			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	96					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTATGCAAACCACTTTGACC	0.368000													8	41					0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511831	36511831	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:36511831G>A	ENST00000526995.1	-	7	1372	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	TRAF6_ENST00000348124.5_Missense_Mutation_p.H376Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	376	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CCAGGGCTATGAATCACAACA	0.443000													19	61					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85434361	85434361	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:85434361G>A	ENST00000393217.2	+	3	287	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	76										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCAGGACCTGGAAGATACTGA	0.313000													18	73					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22025287	22025287	+	Splice_Site	SNP	C	C	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:22025287C>G	ENST00000406385.1	+	4	190	c.128_splice	c.e4-1	p.L44_splice	PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000492445.2_Splice_Site_p.L44_splice|PPIL2_ENST00000335025.7_Splice_Site_p.L44_splice|PPIL2_ENST00000412327.1_Splice_Site_p.L44_splice|PPIL2_ENST00000398831.3_Splice_Site_p.L44_splice			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	44	U-box.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CTTTTTCAGTCTCTCTCTGCA	0.502000													25	103					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349017	100349017	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:100349017C>T	ENST00000437033.2	-	5	980	c.477G>A	c.(475-477)aaG>aaA	p.K159K	ADH7_ENST00000209665.4_Silent_p.K171K|ADH7_ENST00000482593.1_Silent_p.K102K|ADH7_ENST00000476959.1_Silent_p.K179K			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	171					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CATCATCAATCTTAGCAACAG	0.463000													17	59					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153658315	153658315	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:153658315G>A	ENST00000368680.3	+	9	2111	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	547	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTAACCACAGAGGGCCAGTT	0.562000													14	48					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14558700	14558700	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:14558700G>A	ENST00000273083.3	-	0	1242							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGTCGGCGAGGAAAAGGGAGT	0.622000													10	29					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470173	6470173	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:6470173G>A	ENST00000263125.5	-	18	2216	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	PRKCQ_ENST00000397176.2_Missense_Mutation_p.S643F|PRKCQ_ENST00000539722.1_Missense_Mutation_p.S581F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	706	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CAAGATTCAGGATATCAGCCG	0.493000													33	84					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30694695	30694695	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:30694695C>T	ENST00000471646.1	-	11	1472	c.1053_splice	c.e11-1	p.G352_splice	CRHR2_ENST00000348438.4_Splice_Site_p.G379_splice|CRHR2_ENST00000341843.4_Splice_Site_p.G338_splice|CRHR2_ENST00000506074.2_Splice_Site_p.G352_splice	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	352					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGAAGAAACCCTGGAAAGG	0.597000													6	16					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172241118	172241118	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:172241118G>A	ENST00000241261.2	-	1	179	c.57C>T	c.(55-57)atC>atT	p.I19I	TNFSF10_ENST00000420541.2_Silent_p.I19I	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	19					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAAGATCACGATCAGCACGC	0.562000													23	46					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331778	70331778	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:70331778C>T	ENST00000338508.4	-	32	4622	c.4623G>A	c.(4621-4623)atG>atA	p.M1541I	SHANK2_ENST00000409161.1_Missense_Mutation_p.M944I|SHANK2_ENST00000449833.2_Missense_Mutation_p.M945I|SHANK2_ENST00000423696.2_Missense_Mutation_p.M1161I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1161					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTTGTCAACCATAAATGCTT	0.483000													19	66					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57473463	57473463	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:57473463C>T	ENST00000374900.4	+	9	1339	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	407						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTACACCATCCCTTCCATTGG	0.398000										HNSCC(52;0.14)			6	7					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326549	142326549	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142326549C>T	ENST00000390393.3	+	0	187																											GCTTGGAGCTCCAAGAAGGCC	0.527000													10	37					0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656161	47656161	+	Silent	SNP	G	G	A	rs36092288		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:47656161G>A	ENST00000328741.5	+	2	620	c.258G>A	c.(256-258)ccG>ccA	p.P86P	NXPH3_ENST00000513748.1_Silent_p.P86P	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	86	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCAACCGCCCGAACCACAGCC	0.627000													44	28					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436222	56436222	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:56436222G>A	ENST00000327381.5	+	3	1489	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	463						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACTATTTTGTGATCCTTTTGG	0.468000													26	68					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32264941	32264941	+	Missense_Mutation	SNP	G	G	A	rs145759508		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:32264941G>A	ENST00000343380.5	-	6	1175	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	346	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GACTGGCTGGGATCTGTGGTG	0.632000													13	59					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113590346	113590346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:113590346C>T	ENST00000263341.2	-	5	569	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	120		Involved in receptor binding.			activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTTCAGTGATCGTACAGGTGC	0.473000													45	43					0	0	1	0	0
CHCHD6	84303	broad.mit.edu	37	3	126452010	126452010	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:126452010C>T	ENST00000508789.1	+	4	428	c.356C>T	c.(355-357)tCc>tTc	p.S119F	CHCHD6_ENST00000290913.3_Missense_Mutation_p.S119F			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	119										endometrium(2)|large_intestine(3)|lung(3)	8						TCCAAGGCATCCCTGCCCACG	0.572000													11	29					0	0	1	0	0
F3	2152	broad.mit.edu	37	1	95005851	95005851	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:95005851T>C	ENST00000334047.7	-	2	337	c.174A>G	c.(172-174)gaA>gaG	p.E58E	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.E58E	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	58					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CGGGTTTGGGTTCCCACTCCA	0.358000													24	46					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47870283	47870283	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:47870283G>A	ENST00000328771.4	+	7	1988	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	547						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCCCTTCATCGAGCCCCCACC	0.612000													13	33					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275343	29275343	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29275343G>A	ENST00000377160.2	+	1	941	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTTACGGAATGATTCCATGAA	0.418000													23	81					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27462613	27462613	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:27462613G>A	ENST00000316403.10	-	5	1062	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CLU_ENST00000546343.1_Silent_p.F230F|CLU_ENST00000560366.1_Silent_p.F271F|CLU_ENST00000405140.3_Silent_p.F219F|CLU_ENST00000523500.1_Silent_p.F219F			P10909	CLUS_HUMAN	clusterin	219					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ACTTGGGAAAGAAGAAGTGAG	0.587000													17	68					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26026289	26026289	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:26026289G>A	ENST00000356865.6	-	2	642	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	177					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F177L(1)|p.F177_P178>LT(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTCCGCAGGGAAGATTTCGT	0.527000													15	46					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333708	47333708	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:47333708G>A	ENST00000505841.1	-	0	980					NR_002788.2																						AGCAGTAAAAGATCCAGGAGA	0.453000													9	25					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756642	122756642	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:122756642C>T	ENST00000245838.8	-	30	3783	c.3752G>A	c.(3751-3753)gGg>gAg	p.G1251E	THOC2_ENST00000355725.4_Missense_Mutation_p.G1251E|THOC2_ENST00000491737.1_Missense_Mutation_p.G1136E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1251					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCTTGAATTCCCTTTAGGTGT	0.318000													3	8					0	0	1	0	0
PPIB	5479	broad.mit.edu	37	15	64448234	64448234	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:64448234G>A	ENST00000300026.3	-	5	857	c.639C>T	c.(637-639)atC>atT	p.I213I	SNX22_ENST00000325881.4_3'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	213					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)	ACTCCTTGGCGATGGCAAAGG	0.597000													25	23					0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9727594	9727594	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:9727594G>A	ENST00000381844.4	-	4	790	c.627C>T	c.(625-627)gaC>gaT	p.D209D	YWHAQ_ENST00000238081.3_Silent_p.D209D|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	209					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CTTTGTATGAGTCTTCATTCA	0.338000													12	49					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039443	248039443	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248039443G>A	ENST00000366481.3	+	6	1161	c.1113G>A	c.(1111-1113)ggG>ggA	p.G371G	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	371	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAAGAAAGGGGGAAACCACGC	0.562000													30	60					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62749225	62749225	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:62749225G>A	ENST00000280377.5	+	8	942	c.884G>A	c.(883-885)gGa>gAa	p.G295E	USP15_ENST00000393654.3_Missense_Mutation_p.G270E|USP15_ENST00000353364.3_Missense_Mutation_p.G266E	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	295					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTAACTTGGGAAATACGTGT	0.373000													10	26					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133372	47133372	+	RNA	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:47133372A>G	ENST00000422732.2	-	0	435					NR_033957.1																						CTGCTGCTGGAACCGCCAATA	0.493000													11	76					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011640	34011640	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:34011640C>T	ENST00000373381.4	-	57	9273	c.9097G>A	c.(9097-9099)Gga>Aga	p.G3033R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3008	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACATTACCTCCACACTCAGGC	0.597000													18	52					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958352	40958352	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:40958352G>A	ENST00000313164.9	+	11	1837	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCCTCGTAGGGAATCAAGCA	0.488000													16	60					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193083	104193083	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:104193083C>T	ENST00000374855.4	-	2	211	c.87G>A	c.(85-87)ggG>ggA	p.G29G	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	29					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CAGCCAGGATCCCCTTTCCAT	0.448000													14	34					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209278	71209278	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:71209278G>A	ENST00000554752.2	-	6	1356	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	453					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGTGCAGCCCGCGTCAGCTCC	0.627000													12	25					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089649	27089649	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:27089649G>A	ENST00000324856.7	+	8	2976	c.2605G>A	c.(2605-2607)Ggc>Agc	p.G869S	ARID1A_ENST00000374152.2_Missense_Mutation_p.G486S|ARID1A_ENST00000457599.2_Missense_Mutation_p.G869S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	869					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCGGCCTTATGGCCCTAACAT	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								17	37					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128623306	128623306	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:128623306A>G	ENST00000308982.7	+	11	1188	c.1107A>G	c.(1105-1107)caA>caG	p.Q369Q	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	369						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCTGGACCAACCTGGCTTTC	0.542000													8	27					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215914757	215914757	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:215914757C>T	ENST00000366943.2	-	60	12057	c.11671G>A	c.(11671-11673)Gaa>Aaa	p.E3891K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3891K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3891	Fibronectin type-III 24.				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)		TTTGGTTTTTCAGGTGGCATC	0.388000										HNSCC(13;0.011)			23	71					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81627142	81627142	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:81627142C>T	ENST00000548058.1	+	13	2521	c.1611C>T	c.(1609-1611)acC>acT	p.T537T	ACSS3_ENST00000548324.1_Silent_p.T219T|ACSS3_ENST00000261206.3_Silent_p.T536T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	537						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTATGATACCATGGATGCTG	0.338000													29	84					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28511016	28511016	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:28511016G>A	ENST00000261609.7	-	13	1811	c.1703C>T	c.(1702-1704)gCc>gTc	p.A568V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	568					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCCCCCTCGGCAGTGATGGC	0.642000													13	38					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27279649	27279649	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:27279649G>A	ENST00000360131.4	+	8	1683	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G	AGBL5_ENST00000323064.8_Silent_p.G508G	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	508					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCTCAGGGATAATCCACA	0.483000													33	86					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544719	82544719	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:82544719G>A	ENST00000423517.2	-	7	12920	c.12583C>T	c.(12583-12585)Cta>Tta	p.L4195L	PCLO_ENST00000333891.8_Silent_p.L4195L|PCLO_ENST00000437081.1_Silent_p.L915L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4126					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGTCAATTAGTGATTTCTTA	0.358000													12	35					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762437	15762437	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:15762437G>A	ENST00000399451.2	-	8	1258	c.891C>T	c.(889-891)gcC>gcT	p.A297A	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.A330A	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	297						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TATTGACATCGGCCCCATTGC	0.353000													16	38					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280016	22280016	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22280016G>A	ENST00000390431.3	+	0	205																											CCACCTGAAAGCCATGAAGGC	0.458000													8	34					0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45963020	45963020	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:45963020C>T	ENST00000490551.3	-	3	577	c.213G>A	c.(211-213)gaG>gaA	p.E71E	CCDC163P_ENST00000432082.1_Silent_p.E71E|CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000488405.2_Silent_p.E71E																cervix(1)|endometrium(1)	2						TCTCTGACTCCTCCCACAGCA	0.448000													8	29					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408771	82408771	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:82408771C>T	ENST00000370728.1	+	8	1161	c.516C>T	c.(514-516)ttC>ttT	p.F172F	LPHN2_ENST00000370725.1_Silent_p.F172F|LPHN2_ENST00000359929.3_Silent_p.F172F|LPHN2_ENST00000370727.1_Silent_p.F172F|LPHN2_ENST00000370717.2_Silent_p.F172F|LPHN2_ENST00000271029.4_Silent_p.F172F|LPHN2_ENST00000370723.1_Silent_p.F172F|LPHN2_ENST00000335786.5_Silent_p.F172F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.F172F|LPHN2_ENST00000319517.6_Silent_p.F172F|LPHN2_ENST00000370721.1_Silent_p.F176F|LPHN2_ENST00000370713.1_Silent_p.F172F|LPHN2_ENST00000394879.1_Silent_p.F172F|LPHN2_ENST00000370715.1_Silent_p.F172F			O95490	LPHN2_HUMAN	latrophilin 2	172	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAATTTATTTCATGCCCTGGA	0.398000													24	52					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009409	46009409	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:46009409G>A	ENST00000296137.2	-	8	1622	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	FYCO1_ENST00000535325.1_Silent_p.L473L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	473					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AACTCCTGCAGCCGTCGCCAG	0.637000													25	88					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389314	76389314	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:76389314G>A	ENST00000307431.8	+	4	678	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G98E|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G102E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G74E|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	99	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G74E(2)|p.G98E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTCAAGGGGGATATGGTAGC	0.522000													18	25					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234154	21234154	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:21234154C>T	ENST00000233242.1	-	26	5713	c.5586G>A	c.(5584-5586)gtG>gtA	p.V1862V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1862					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGCTAAACTCCACACCCTGAA	0.443000													139	311					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	348073	348073	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:348073A>C	ENST00000262320.3	-	6	1804	c.1433T>G	c.(1432-1434)gTg>gGg	p.V478G	AXIN1_ENST00000354866.3_Missense_Mutation_p.V478G|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	478	Interaction with CTNNB1 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGTCCTCAGCACACGCTGTAC	0.692000											OREG0003699	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	8					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16727338	16727338	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:16727338C>T	ENST00000335496.1	-	11	1533	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.E328K	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	351							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		ACGGCCGCTTCCATCTCCTGG	0.567000													46	118					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876392	120876392	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:120876392C>T	ENST00000273666.6	+	9	1066	c.795C>T	c.(793-795)ttC>ttT	p.F265F	STXBP5L_ENST00000492541.1_Silent_p.F265F|STXBP5L_ENST00000497029.1_Silent_p.F265F|STXBP5L_ENST00000471454.1_Silent_p.F265F|STXBP5L_ENST00000472879.1_Silent_p.F265F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	265					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCAAACAGTTCATGTGCAGCC	0.378000													14	35					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31362167	31362167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:31362167G>A	ENST00000559179.1	-	3	413	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000397795.2_Intron	NM_001252030.1	NP_001238959.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1379					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGCAGTTTGGGGCTGGGAGAC	0.468000													61	125					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129159089	129159089	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:129159089C>T	ENST00000540052.1	+	6	3857	c.3813C>T	c.(3811-3813)acC>acT	p.T1271T	BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000218147.7_Silent_p.T1271T|BCORL1_ENST00000303743.5_Silent_p.T1271T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1271					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGAAAGACCCAACGGGACA	0.597000													29	19					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666856	77666856	+	Silent	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:77666856A>G	ENST00000461745.1	+	22	4386	c.3486A>G	c.(3484-3486)caA>caG	p.Q1162Q	ROBO2_ENST00000487694.3_Silent_p.Q1178Q|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Silent_p.Q1162Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1162					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGAGATGCAACCCATGCTGC	0.483000													15	49					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99506319	99506319	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:99506319C>T	ENST00000355947.2	-	4	813	c.684G>A	c.(682-684)acG>acA	p.T228T	TRIM4_ENST00000354241.5_Silent_p.T202T|TRIM4_ENST00000349062.2_Silent_p.T202T	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	228					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GCTTCTTCTTCGTCTCTTCTT	0.448000													24	62					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142204176	142204176	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:142204176G>A	ENST00000519811.1	+	23	3751	c.3681G>A	c.(3679-3681)ggG>ggA	p.G1227G	DENND3_ENST00000262585.2_Silent_p.G1147G|DENND3_ENST00000523308.1_Silent_p.G197G|DENND3_ENST00000424248.1_Silent_p.G1095G			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1147										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCAAGGGGAAAATCTACG	0.632000													19	55					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12637866	12637866	+	Silent	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:12637866A>C	ENST00000339282.7	-	4	1252	c.1056T>G	c.(1054-1056)gtT>gtG	p.V352V	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CATGTGTTCGAACATTACTGG	0.408000													32	50					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402909	65402909	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:65402909G>A	ENST00000355703.3	+	31	5713	c.5174G>A	c.(5173-5175)cGa>cAa	p.R1725Q		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1725						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTCAGCTTCCGAGTCATCAAG	0.662000													5	14					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497502	34497502	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:34497502G>A	ENST00000538621.1	+	6	917	c.672G>A	c.(670-672)atG>atA	p.M224I	PACSIN1_ENST00000374043.2_Missense_Mutation_p.M182I|PACSIN1_ENST00000244458.2_Missense_Mutation_p.M224I	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	224					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CCCAGTACATGGAGAACATGG	0.542000													17	22					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39358893	39358893	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:39358893C>T	ENST00000280481.7	+	6	6183	c.5967C>T	c.(5965-5967)atC>atT	p.I1989I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1989					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGGAAGAATCGGATCAGAGT	0.448000													12	25					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100128015	100128015	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:100128015C>T	ENST00000395996.1	+	7	961	c.850C>T	c.(850-852)Ctt>Ttt	p.L284F	VPS13B_ENST00000355155.1_Missense_Mutation_p.L284F|VPS13B_ENST00000358544.2_Missense_Mutation_p.L284F|VPS13B_ENST00000441350.2_Missense_Mutation_p.L284F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L284F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	284					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGAATTGCTCTTTACTATGG	0.318000													15	50					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41557023	41557023	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:41557023C>T	ENST00000396942.1	-	23	2588	c.2505G>A	c.(2503-2505)agG>agA	p.R835R	ANK1_ENST00000289734.7_Silent_p.R835R|ANK1_ENST00000396945.1_Silent_p.R835R|ANK1_ENST00000352337.4_Silent_p.R835R|ANK1_ENST00000347528.4_Silent_p.R835R|ANK1_ENST00000379758.2_Silent_p.R835R|ANK1_ENST00000265709.8_Silent_p.R876R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	835					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATCAACATCCCTGGAATCCC	0.562000													29	86					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792960	131792960	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:131792960G>A	ENST00000286355.5	-	18	5524	c.3432C>T	c.(3430-3432)ggC>ggT	p.G1144G	ADCY8_ENST00000377928.3_Silent_p.G1013G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1144					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAAAGGCAAAGCCCTGGTCCT	0.517000										HNSCC(32;0.087)			42	80					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655897	12655897	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:12655897C>T	ENST00000425538.1	+	10	1492	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	MYOCD_ENST00000395988.1_Missense_Mutation_p.P335L|MYOCD_ENST00000343344.4_Missense_Mutation_p.P431L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	431					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACACGCTGCCCAATTACCAG	0.577000													26	65					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516172	51516172	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:51516172G>A	ENST00000328188.1	+	1	891	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGCCATCAGGAAATTGTGTA	0.348000													9	39					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155861161	155861161	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:155861161G>A	ENST00000471742.1	+	1	411	c.194G>A	c.(193-195)gGa>gAa	p.G65E	KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	76						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CGTGTTCATGGAATTTCGTTG	0.522000													29	71					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865240	106865240	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:106865240C>T	ENST00000369701.3	+	7	1406	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	393						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACATCAGTTCCCTGGTTGTCC	0.498000													32	81					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247797	177247797	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:177247797C>T	ENST00000361539.4	+	7	1423	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		371						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTTCAGCACCGCTACCAGCA	0.587000													49	124					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44251629	44251629	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:44251629C>T	ENST00000601170.1	-	5	867	c.553G>A	c.(553-555)Gat>Aat	p.D185N	SMG9_ENST00000270066.6_Missense_Mutation_p.D185N			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	185					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						ATCTGGTCATCCACCAACTTG	0.567000													12	35					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84230618	84230618	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:84230618C>T	ENST00000405413.2	-	8	1057	c.921G>A	c.(919-921)aaG>aaA	p.K307K	HPSE_ENST00000311412.5_Silent_p.K307K|HPSE_ENST00000513463.1_Silent_p.K249K|HPSE_ENST00000512196.1_Silent_p.K307K	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	307				K -> R (in Ref. 1; AAD45669, 2; AAD54941, 3; AAD41342, 4; AAD45379, 5; AAD54516, 8; AAX47106, 9; BAD96706 and 11; AAH51321).	carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GAAAATCTTCCTTGGTAGCAG	0.289000													9	28					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77595570	77595570	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:77595570G>A	ENST00000461745.1	+	7	1916	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	ROBO2_ENST00000487694.3_Missense_Mutation_p.G355E|ROBO2_ENST00000332191.8_Missense_Mutation_p.G339E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	339	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAACTAAAGGAAACCCACAG	0.453000													57	172					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33694681	33694681	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:33694681G>A	ENST00000451316.1	-	5	951	c.416C>T	c.(415-417)cCg>cTg	p.P139L	IP6K3_ENST00000293756.4_Missense_Mutation_p.P139L	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	139					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AGCCTTGGCCGGGCTGCGGCG	0.627000													19	89					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	335148	335148	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:335148C>T	ENST00000419235.2	+	4	251	c.173C>T	c.(172-174)tCa>tTa	p.S58L	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.S58L|DUSP22_ENST00000603290.1_3'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	58					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCAGCGGATTCACCATCTCAA	0.318000													7	47					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835945	247835945	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247835945C>T	ENST00000359688.2	-	1	420	c.399G>A	c.(397-399)atG>atA	p.M133I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATGGTGGTTCATAATAGTAC	0.473000													19	32					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401350	140401350	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:140401350G>A	ENST00000286349.3	+	2	579	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	130						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCAGGTGGATGAAGTAAAGTC	0.567000													21	43					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739043	38739043	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:38739043G>A	ENST00000449082.2	-	27	5667	c.5668C>T	c.(5668-5670)Cca>Tca	p.P1890S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1890					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)	CCTTCATCTGGGAGTGATGCA	0.498000													28	79					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63937858	63937858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:63937858C>T	ENST00000443617.2	-	56	10989	c.10902G>A	c.(10900-10902)tgG>tgA	p.W3634*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3634					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGTAGGGTCCCACTTCATGC	0.383000													3	6					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748208	41748208	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:41748208G>A	ENST00000226382.2	-	3	920	c.561C>T	c.(559-561)gcC>gcT	p.A187A		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	187					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CAGTGCTCTTGGCCTCTTTGC	0.711000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				13	40					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011505	160011505	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:160011505C>T	ENST00000368089.3	-	2	1044	c.818G>A	c.(817-819)gGt>gAt	p.G273D	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	273						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCACCCTCACCACTGCGAAG	0.537000													20	41					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919946	4919946	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:4919946G>A	ENST00000433855.1	+	1	1605	c.739G>A	c.(739-741)Ggc>Agc	p.G247S	KCNA6_ENST00000280684.3_Missense_Mutation_p.G247S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	247						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGACCGGGGGCTCCTCCTC	0.547000										HNSCC(72;0.22)			30	96					0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939824	56939824	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:56939824C>T	ENST00000334889.3	-	2	498	c.312G>A	c.(310-312)aaG>aaA	p.K104K	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	104					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CCCCGGGCTCCTTGGGGCAGT	0.697000													10	24					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150817200	150817200	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150817200A>G	ENST00000397238.2	+	8	1096	c.1096A>G	c.(1096-1098)Aag>Gag	p.K366E	AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000473312.1_Missense_Mutation_p.K366E|AGAP3_ENST00000463381.1_Missense_Mutation_p.K138E|AGAP3_ENST00000335367.3_Missense_Mutation_p.K546E	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	330	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCCATCCGAAAGCAGTCCAA	0.667000													10	23					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100194381	100194381	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:100194381C>T	ENST00000355295.4	+	4	719	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	TDRD7_ENST00000422139.2_Missense_Mutation_p.P68S	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	142					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TAATCCAGCACCGTTAAGAGA	0.388000													18	75					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674323	3674323	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:3674323G>A	ENST00000344754.4	-	13	3278	c.3279C>T	c.(3277-3279)ccC>ccT	p.P1093P	SIGLEC1_ENST00000202578.4_Silent_p.P1093P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1093	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGTAGCCCCGGGCCACACCT	0.642000													9	34					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815683	31815683	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:31815683G>A	ENST00000446923.2	+	9	3209	c.2818G>A	c.(2818-2820)Gga>Aga	p.G940R	ZEB1_ENST00000542815.3_Missense_Mutation_p.G889R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G957R|ZEB1_ENST00000560721.2_Missense_Mutation_p.G936R|ZEB1_ENST00000320985.10_Missense_Mutation_p.G956R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	956					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATTACATTCTGGAGAAAAGCC	0.383000													10	25					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26369133	26369133	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:26369133C>T	ENST00000374278.3	-	4	708	c.492G>A	c.(490-492)gaG>gaA	p.E164E	SLC30A2_ENST00000374276.3_Silent_p.E213E	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	164					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGGGGTTCTCCTCCTGCT	0.552000													16	46					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7984847	7984847	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:7984847C>T	ENST00000328600.2	-	1	357	c.196G>A	c.(196-198)Gga>Aga	p.G66R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	66	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCTTTTCTCCATACTTTGAA	0.532000													20	58					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021121	7021121	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:7021121T>C	ENST00000278314.4	-	3	2108	c.1793A>G	c.(1792-1794)cAc>cGc	p.H598R	ZNF214_ENST00000536068.1_Missense_Mutation_p.H598R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATGATTATTGTGAAGATGTGA	0.323000													14	30					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685526	100685526	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100685526C>T	ENST00000306151.4	+	3	10893	c.10829C>T	c.(10828-10830)tCt>tTt	p.S3610F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3610	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)					GTGACCACTTCTACTCAGAGC	0.468000													29	82					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42769547	42769547	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:42769547C>T	ENST00000330714.3	+	8	1262	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	MX2_ENST00000496774.1_3'UTR|MX2_ENST00000543692.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	360					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CAGAGTTCTCCTGGAGGAGGG	0.527000													12	28					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169641872	169641872	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:169641872C>T	ENST00000366787.3	-	6	1125	c.876G>A	c.(874-876)gaG>gaA	p.E292E		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	292					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.E292E(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCTTGAGGTTCTCGCTGAGCT	0.647000													18	66					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4828127	4828127	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:4828127C>T	ENST00000268231.8	-	9	1098	c.835G>A	c.(835-837)Gcg>Acg	p.A279T	SEPT12_ENST00000396693.5_Missense_Mutation_p.A233T	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	279					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCACAGTGCGCCATGTTCTCC	0.582000													5	19					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215202	141215202	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:141215202G>A	ENST00000389484.3	-	61	10615	c.9644C>T	c.(9643-9645)cCa>cTa	p.P3215L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3215					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCACCCCTGGAATATCTTG	0.418000										TSP Lung(27;0.18)			21	64					0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220971238	220971238	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:220971238C>T	ENST00000366910.5	+	4	821	c.635C>T	c.(634-636)cCa>cTa	p.P212L	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	212	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GACACCAGCCCATTCTTGATC	0.438000													11	44					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279494	217279494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:217279494C>T	ENST00000357276.4	+	3	397	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R23C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	23					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	p.R23G(1)		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)		GGCTCTGGCCCGCAGAGCTGA	0.498000									Schimke Immuno-Osseous Dysplasia				96	70					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347047	48347047	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:48347047C>T	ENST00000319856.4	+	1	576	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGGTTCAGCTCCTCCTGGTCC	0.527000													19	92					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843555	4843555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4843555C>T	ENST00000322110.5	+	1	1005	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGCAGATTCAAAAGGCCAT	0.373000													27	74					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767364	77767364	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:77767364C>T	ENST00000521891.2	+	10	8655	c.8207C>T	c.(8206-8208)cCa>cTa	p.P2736L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2691L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2691L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2710L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2691						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCATCTTTGCCATTAACTAAA	0.413000										HNSCC(33;0.089)			15	30					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13378289	13378289	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:13378289C>T	ENST00000254508.5	-	27	3764	c.3682G>A	c.(3682-3684)Gag>Aag	p.E1228K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1228					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTACCTACCTCGTGGTGCCGC	0.647000													15	25					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69129923	69129923	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:69129923C>T	ENST00000288368.4	+	38	4954	c.4677C>T	c.(4675-4677)atC>atT	p.I1559I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1559					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCGTTACATCATGCAGGCTA	0.527000													13	16					0	0	1	0	0
PPP3CC	5533	broad.mit.edu	37	8	22390488	22390488	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:22390488C>T	ENST00000240139.5	+	12	1605	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	PPP3CC_ENST00000397775.3_Silent_p.L435L|PPP3CC_ENST00000289963.8_Silent_p.L426L	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	426					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		CAGGCACACTCCCTCTGGGCG	0.557000													11	41					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31698746	31698746	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31698746G>A	ENST00000375780.2	-	7	1171	c.599C>T	c.(598-600)cCc>cTc	p.P200L	CLIC1_ENST00000375779.2_Missense_Mutation_p.P200L|CLIC1_ENST00000375784.3_Missense_Mutation_p.P200L|CLIC1_ENST00000395892.1_Missense_Mutation_p.P200L			O00299	CLIC1_HUMAN	chloride intracellular channel 1	200	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GAAGGCCTCGGGGATGGTGAA	0.572000													184	279					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145741395	145741395	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:145741395G>A	ENST00000428558.2	-	5	1149	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	370					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCCTGCTACGGAGTGCCCGG	0.637000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	16					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66329733	66329733	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:66329733G>A	ENST00000513398.1	+	0	2425				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TACAGAAGCAGAATGGGATGA	0.592000													28	84					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2428367	2428367	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2428367C>T	ENST00000449969.1	+	15	2114	c.1953C>T	c.(1951-1953)ctC>ctT	p.L651L	PLCH2_ENST00000378486.3_Silent_p.L678L|PLCH2_ENST00000378488.3_Silent_p.L678L|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Silent_p.L678L|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	678	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGCAGCAGCTCTCCCGCATCT	0.637000													17	37					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43773150	43773150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:43773150G>A	ENST00000372476.3	+	6	899	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	TIE1_ENST00000441333.2_Missense_Mutation_p.G274S|TIE1_ENST00000538015.1_Missense_Mutation_p.G274S|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	274	EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGTGCCCAGGCATATCAGG	0.632000													20	39					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82390765	82390765	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:82390765C>T	ENST00000333891.8	-	23	15389	c.15052G>A	c.(15052-15054)Gaa>Aaa	p.E5018K		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4941	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTTCATTTCCTTCTTCAAT	0.313000													9	19					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1805505	1805505	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:1805505G>T	ENST00000399161.2	-	23	3986	c.3239C>A	c.(3238-3240)tCc>tAc	p.S1080Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.S1078Y|MYT1L_ENST00000407844.1_Missense_Mutation_p.S76Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1080					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCCATCTGGGAATTGGATTC	0.343000													31	101					3.62531e-18	3.69198e-18	1	1	0
KNDC1	85442	broad.mit.edu	37	10	135000137	135000137	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:135000137C>T	ENST00000304613.3	+	6	1306	c.1285C>T	c.(1285-1287)Cca>Tca	p.P429S	KNDC1_ENST00000368572.2_Missense_Mutation_p.P429S|KNDC1_ENST00000368571.2_Missense_Mutation_p.P364S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	429					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.P429S(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGAGAGAATTCCAGAAGGAGC	0.662000													4	21					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67942004	67942004	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:67942004G>A	ENST00000252336.6	+	10	2706		c.e10+1		STARD8_ENST00000374597.3_Splice_Site|STARD8_ENST00000374599.3_Splice_Site	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACTTTTCCAGGTGAGTAACCC	0.572000													10	5					0	0	1	0	0
FAM115C	285966	broad.mit.edu	37	7	143417196	143417196	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:143417196G>A	ENST00000441159.2	+	3	1110	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q	FAM115C_ENST00000444908.2_Silent_p.Q348Q|FAM115C_ENST00000357344.4_Silent_p.Q348Q|FAM115C_ENST00000411935.1_Silent_p.Q184Q|FAM115C_ENST00000411497.2_Silent_p.Q67Q|FAM115C_ENST00000409703.3_Silent_p.Q184Q|FAM115C_ENST00000425618.2_Silent_p.Q67Q			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	348										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						AGCAGCTGCAGGAGTTTGTGG	0.632000													16	50					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284281	159284281	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:159284281G>A	ENST00000332217.5	-	1	168	c.169C>T	c.(169-171)Cac>Tac	p.H57Y		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATGGGGGTGTGAAGATGATGG	0.458000													42	89					0	0	1	0	0
TRAV40	28641	broad.mit.edu	37	14	22783267	22783267	+	RNA	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:22783267G>T	ENST00000390467.3	+	0	233																											TTCGGAGGCGGAAATATTAAA	0.453000													34	47					4.39465e-27	4.4849e-27	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44560646	44560646	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:44560646G>A	ENST00000289547.4	-	13	3080	c.3025C>T	c.(3025-3027)Cat>Tat	p.H1009Y	NPC1L1_ENST00000381160.3_Missense_Mutation_p.H1009Y|NPC1L1_ENST00000546276.1_Missense_Mutation_p.H963Y	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1009					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGATACTTATGGAACTGCTCC	0.557000													36	107					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217597	150217597	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150217597G>A	ENST00000313543.4	+	2	692	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	179							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAGAGAAGGAAAGTCAAGT	0.488000													16	39					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102710968	102710968	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:102710968G>A	ENST00000299855.5	-	6	1062	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	269					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S269F(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GGTCTCAGGGGAGTCAGGGGG	0.517000													20	59					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1963686	1963686	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:1963686G>A	ENST00000217305.2	-	3	270	c.45C>T	c.(43-45)ttC>ttT	p.F15F	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.F15F|PDYN_ENST00000539905.1_Silent_p.F15F	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	15					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGTGGAGGGGAACATGAGGA	0.562000													17	31					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104075196	104075196	+	Silent	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:104075196G>T	ENST00000374874.3	+	6	1192	c.753G>T	c.(751-753)cgG>cgT	p.R251R	LPPR1_ENST00000395056.2_Silent_p.R251R	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		251						integral to membrane	catalytic activity										CTGAGTATCGGAACCACTGCT	0.557000													26	88					1.32003e-05	1.33241e-05	1	1	0
ANKRD28	23243	broad.mit.edu	37	3	15762438	15762438	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:15762438G>A	ENST00000399451.2	-	8	1257	c.890C>T	c.(889-891)gCc>gTc	p.A297V	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.A330V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	297						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTGACATCGGCCCCATTGCC	0.353000													17	39					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712649	70712649	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:70712649G>A	ENST00000530196.1	-	0	1869					NR_003951.1																						AAAGTAAAATGATCTTGGAGA	0.398000													15	40					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653325	159653325	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:159653325G>A	ENST00000297267.9	+	11	1981	c.1781G>A	c.(1780-1782)aGg>aAg	p.R594K	FNDC1_ENST00000340366.6_Missense_Mutation_p.R531K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	594						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)		CTGCCCCGAAGGGAAGGCGTA	0.701000													6	7					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19452036	19452036	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:19452036C>T	ENST00000396229.2	+	3	1425	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	TMC5_ENST00000381414.4_Missense_Mutation_p.P226S|TMC5_ENST00000542583.2_Missense_Mutation_p.P226S|TMC5_ENST00000541464.1_Missense_Mutation_p.P226S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	226						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCAGACTATCCCAGTGCTGA	0.463000													26	56					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20813132	20813132	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:20813132C>T	ENST00000527915.1	+	2	93	c.88C>T	c.(88-90)Cca>Tca	p.P30S	PARP2_ENST00000250416.5_Missense_Mutation_p.P30S|RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.P30S			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	30					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CAACACGGCTCCAGAAGACTC	0.418000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	56					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197704732	197704732	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:197704732G>A	ENST00000235453.4	-	3	313	c.36C>T	c.(34-36)ccC>ccT	p.P12P	DENND1B_ENST00000400967.2_Silent_p.P12P|DENND1B_ENST00000367396.3_Intron			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						ATACAGGTTGGGGCCATCTTT	0.463000													10	27					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207120	148207120	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:148207120C>T	ENST00000305988.4	+	1	965	c.726C>T	c.(724-726)gtC>gtT	p.V242V		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	242					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GCTTCCATGTCCAGAACCTTA	0.552000													12	43					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454796	29454796	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:29454796C>T	ENST00000216071.4	-	3	858	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	269										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CTGGCTGCTTCCTGCCAGGGA	0.522000													33	71					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128368934	128368934	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:128368934G>A	ENST00000262462.4	+	10	2829	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	SLC27A6_ENST00000395266.1_Missense_Mutation_p.E607K|SLC27A6_ENST00000506176.1_Missense_Mutation_p.E607K			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	607					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACTGACCAGGGAACTTTATGA	0.338000													7	17					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724228	38724228	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:38724228G>A	ENST00000342213.2	-	1	1346	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	334						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCTTGTTCAGGGACAAGTGGT	0.562000													19	72					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404995	10404995	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:10404995C>T	ENST00000226207.5	-	26	3358	c.3264G>A	c.(3262-3264)gaG>gaA	p.E1088E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1088						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATTTCAAACTCTTTCCTAT	0.358000													10	32					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133473817	133473817	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:133473817A>T	ENST00000395029.1	+	4	704	c.509A>T	c.(508-510)cAt>cTt	p.H170L	TCF7_ENST00000518915.1_Missense_Mutation_p.H55L|TCF7_ENST00000395023.1_Missense_Mutation_p.H55L|TCF7_ENST00000378560.4_Missense_Mutation_p.H55L|TCF7_ENST00000520958.1_Missense_Mutation_p.H55L|TCF7_ENST00000321584.4_Missense_Mutation_p.H170L|TCF7_ENST00000321603.6_Missense_Mutation_p.H170L|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000432532.2_Missense_Mutation_p.H55L|TCF7_ENST00000342854.5_Missense_Mutation_p.H170L|TCF7_ENST00000378564.1_Missense_Mutation_p.H170L			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	170					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACAGCCCACATCCCACCCCT	0.592000													14	30					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124211629	124211629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:124211629C>T	ENST00000360013.3	+	32	4853	c.4726C>T	c.(4726-4728)Cga>Tga	p.R1576*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.R1567*|KALRN_ENST00000240874.3_Nonsense_Mutation_p.R1576*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1576	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAGAACATTCGAGAAGTGAT	0.463000													30	65					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117086949	117086949	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:117086949G>A	ENST00000457047.2	-	2	401	c.348C>T	c.(346-348)ttC>ttT	p.F116F	CD58_ENST00000369487.3_Silent_p.F116F|CD58_ENST00000369489.5_Silent_p.F116F	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	116					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		CATAAAGAAAGAACTTCATGG	0.338000													13	35					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23701189	23701189	+	Silent	SNP	C	C	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:23701189C>A	ENST00000300093.4	+	10	1728	c.1617C>A	c.(1615-1617)acC>acA	p.T539T		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	539	Important for interaction with phosphorylated proteins (By similarity).|POLO box 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AGGATCACACCAAGCTCATCT	0.562000													21	38					7.41877e-09	7.51573e-09	1	1	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:156812213G>A	ENST00000368195.3	-	18	3610	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000													28	68					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39449176	39449176	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:39449176A>G	ENST00000301821.6	+	2	141	c.32A>G	c.(31-33)aAg>aGg	p.K11R	RPSA_ENST00000443003.1_Missense_Mutation_p.K11R	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	11					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ctgcaaatgaaggagGAGGAT	0.423000													10	20					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021041	5021041	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:5021041C>T	ENST00000321543.1	+	1	829	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCACATCCTCATGGCAGA	0.453000													17	40					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74749796	74749796	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:74749796G>A	ENST00000404568.3	-	8	1625	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L	DQX1_ENST00000393951.2_Missense_Mutation_p.P469L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	469						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGGGCCAGAGGGAATTCTGA	0.547000													51	135					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115856484	115856484	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:115856484G>A	ENST00000264363.2	-	6	2092	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	472	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.P472S(1)		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)		GTCTGTCGAGGGAGGACCTGA	0.393000													6	28					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439483	145439483	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:145439483C>T	ENST00000511217.1	+	8	1662	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.S537F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	537							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGTAGGCTCCCTCAGACGC	0.627000													22	42					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181687219	181687219	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:181687219C>T	ENST00000526775.1	+	12	1719	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L	CACNA1E_ENST00000367573.2_Silent_p.L518L|CACNA1E_ENST00000358338.5_Silent_p.L469L|CACNA1E_ENST00000360108.3_Silent_p.L518L|CACNA1E_ENST00000357570.5_Silent_p.L469L|CACNA1E_ENST00000367570.1_Silent_p.L518L|CACNA1E_ENST00000367567.4_Silent_p.L125L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	518					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCTGGGACTCTTCCTCTTGG	0.468000													8	21					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29111997	29111997	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:29111997G>A	ENST00000409850.1	-	12	1298	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	CPVL_ENST00000265394.5_Missense_Mutation_p.H218Y|CPVL_ENST00000396276.3_Missense_Mutation_p.H218Y			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	218					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTGAGGGAATGGATGAGGTGT	0.433000													13	33					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433851	72433851	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:72433851C>T	ENST00000373517.3	-	1	833	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	NAP1L2_ENST00000536638.1_Missense_Mutation_p.E18K	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	160	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCTGTAGGTTCATAGATTGCA	0.383000													46	27					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612657	142612657	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142612657G>A	ENST00000265310.1	-	9	1552	c.1204C>T	c.(1204-1206)Cta>Tta	p.L402L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	402					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCACCTCTAGGAGCAGGATG	0.557000													14	31					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40040211	40040211	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:40040211A>C	ENST00000324616.5	+	4	437	c.283A>C	c.(283-285)Atg>Ctg	p.M95L	C12orf40_ENST00000405531.3_Missense_Mutation_p.M95L|C12orf40_ENST00000398716.1_Missense_Mutation_p.M18L	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	95										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGAACTTACAATGTCGCCTCA	0.318000													34	82					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29685510	29685510	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:29685510G>A	ENST00000358273.4	+	55	8366	c.7983G>A	c.(7981-7983)ttG>ttA	p.L2661L	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Silent_p.L2640L|NF1_ENST00000444181.2_Silent_p.L454L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2661					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAATTTGTTGGACTCTAAGA	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	31					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35914025	35914025	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:35914025T>C	ENST00000339208.6	-	14	1940	c.1800A>G	c.(1798-1800)atA>atG	p.I600M	SYNRG_ENST00000345615.4_Missense_Mutation_p.I522M|SYNRG_ENST00000591288.1_Missense_Mutation_p.I439M|SYNRG_ENST00000585472.1_Missense_Mutation_p.I521M|SYNRG_ENST00000502449.2_Missense_Mutation_p.I522M|SYNRG_ENST00000346661.4_Missense_Mutation_p.I600M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000394378.2_Missense_Mutation_p.I522M	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	600	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTTCTGTTGTATAGTTCCTG	0.398000													75	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057220	9057220	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9057220G>A	ENST00000397910.4	-	3	30429	c.30226C>T	c.(30226-30228)Ctg>Ttg	p.L10076L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10078	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						GTGCCACTCAGATTTGGAGAT	0.473000													30	58					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443924	46443924	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:46443924G>A	ENST00000263257.5	-	4	870	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	226						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GAGCCGGTGGGGTTGGAGTTG	0.726000													8	17					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79750874	79750874	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:79750874G>A	ENST00000372371.3	-	21	2976	c.2839C>T	c.(2839-2841)Ctg>Ttg	p.L947L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	947					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCTGTGGTCAGGATCAGCTCG	0.532000													16	31					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627031	108627031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:108627031G>A	ENST00000393963.3	-	4	507	c.508C>T	c.(508-510)Caa>Taa	p.Q170*	GUCA1C_ENST00000261047.3_Silent_p.I156I			O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	0					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CCATGCCATTGATAAATTCTT	0.393000													17	12					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252465	46252465	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:46252465C>T	ENST00000510861.1	-	10	1389	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	GABRA2_ENST00000507069.1_Missense_Mutation_p.E466K|GABRA2_ENST00000514090.1_Missense_Mutation_p.E406K|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406K|GABRA2_ENST00000356504.1_Missense_Mutation_p.E406K|GABRA2_ENST00000540012.1_Missense_Mutation_p.E411K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	406					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTTTGCTTCAGCTGGCTTG	0.408000													59	155					0	0	1	0	0
THOC7	80145	broad.mit.edu	37	3	63823651	63823651	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:63823651C>T	ENST00000295899.5	-	4	465		c.e4+1		C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_Splice_Site	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		AAAACCCTTACCTTGGCGATT	0.358000													25	63					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430347	29430347	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:29430347G>A	ENST00000377136.1	+	4	1266	c.801G>A	c.(799-801)ggG>ggA	p.G267G	OR2H1_ENST00000442615.1_Silent_p.G267G|OR2H1_ENST00000377133.1_Silent_p.G267G|OR2H1_ENST00000396792.2_Silent_p.G267G|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Silent_p.G267G			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ATGCCCAAGGGAGGGGCAAGT	0.527000													16	98					0	0	1	0	0
AIMP1	9255	broad.mit.edu	37	4	107253027	107253027	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:107253027T>C	ENST00000394701.4	+	5	703	c.662T>C	c.(661-663)gTt>gCt	p.V221A	AIMP1_ENST00000442366.1_Missense_Mutation_p.V197A|AIMP1_ENST00000358008.3_Missense_Mutation_p.V197A	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	197	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GTGAATCATGTTCCTCTTGAA	0.393000													45	79					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85607846	85607846	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:85607846C>T	ENST00000376447.3	-	15	2275	c.2015G>A	c.(2014-2016)gGg>gAg	p.G672E		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	672					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCAAAGTGCCCTGGGACACA	0.483000													37	95					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624224	92624224	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:92624224G>A	ENST00000298047.6	+	27	13732	c.13715G>A	c.(13714-13716)aGc>aAc	p.S4572N	FAT3_ENST00000533797.1_Missense_Mutation_p.S875N|FAT3_ENST00000409404.2_Missense_Mutation_p.S4540N|FAT3_ENST00000525166.1_Missense_Mutation_p.S4422N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4572					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAGAGCTCAGCCTCGCCAGC	0.517000										TCGA Ovarian(4;0.039)			110	340					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	720985	720985	+	Missense_Mutation	SNP	C	C	T	rs143577577		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:720985C>T	ENST00000315082.4	+	10	847	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	245			R -> Q (in dbSNP:rs1139897).		apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCGGGAGGACCGGCTGACCCT	0.697000													5	8					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24483528	24483528	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:24483528C>T	ENST00000398319.2	+	23	3772	c.3387C>T	c.(3385-3387)ttC>ttT	p.F1129F	CABIN1_ENST00000263119.5_Silent_p.F1129F|CABIN1_ENST00000405822.2_Silent_p.F1079F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1129					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAACTGCTTCCGTCGGGCCC	0.557000													16	40					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76582156	76582156	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:76582156G>A	ENST00000359707.4	-	5	1179	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	G3BP2_ENST00000357854.3_Missense_Mutation_p.R132C|G3BP2_ENST00000395719.3_Missense_Mutation_p.R132C|G3BP2_ENST00000502654.1_5'UTR	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	132	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTTCATAACGAAACATATCA	0.323000													35	95					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510900	119510900	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:119510900C>T	ENST00000368468.3	-	10	1916	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	492					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TTGGGCCATGCCTTCGGGAGC	0.532000													23	46					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369215	158369215	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:158369215G>A	ENST00000334438.1	-	1	41	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AACCCACCAGGATGAACTGTG	0.438000													13	31					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126869366	126869366	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:126869366T>C	ENST00000442138.2	+	6	955	c.809T>C	c.(808-810)gTt>gCt	p.V270A	PRRC1_ENST00000512635.2_Missense_Mutation_p.V270A|PRRC1_ENST00000296666.8_Missense_Mutation_p.V270A			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	270						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAAGTAAAAGTTGCTGCTGTC	0.413000													39	71					0	0	1	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497401	39497401	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:39497401C>T	ENST00000442487.3	+	3	437	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	APOBEC3H_ENST00000401756.1_Silent_p.L104L|APOBEC3H_ENST00000348946.4_Silent_p.L104L|APOBEC3H_ENST00000421988.2_Silent_p.L104L	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	104					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CCATCTGAACCTGGGCATCTT	0.612000													16	38					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22206747	22206747	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:22206747G>A	ENST00000344041.6	-	12	1077	c.765C>T	c.(763-765)ttC>ttT	p.F255F	RAPGEF5_ENST00000401957.2_Silent_p.F105F	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	105					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ACGTGAGAAGGAAGTCATCCA	0.458000													5	19					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895547	24895547	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:24895547C>T	ENST00000382071.2	+	4	728	c.643C>T	c.(643-645)Cct>Tct	p.P215S	AL359736.1_ENST00000422229.2_Missense_Mutation_p.G7E|C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.P215S			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	215	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAGCAAGTTTCCTTCTTCAGA	0.458000													4	29					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589646	140589646	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140589646C>T	ENST00000239450.2	+	1	1356	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	PCDHB12_ENST00000541609.1_Silent_p.I52I	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		389	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I389I(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGACATCCCATTCGTGC	0.473000													15	35					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008431	176008431	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:176008431G>A	ENST00000510636.1	+	17	2180	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D636N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D636N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	636	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTTCTCCTTGGACCCTGACAC	0.617000													10	26					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940264	22940264	+	Missense_Mutation	SNP	G	G	A	rs74170740		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:22940264G>A	ENST00000397104.3	-	5	2173	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	ZNF99_ENST00000596209.1_Missense_Mutation_p.S816F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTAGGATTTCTCTCC	0.348000													6	16					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61965609	61965609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:61965609G>A	ENST00000280772.1	-	11	1425	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R395*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R406*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	412					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTTTAATTCGATTCTTCTTG	0.423000													10	26					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559419	84559419	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:84559419A>G	ENST00000262753.4	-	14	1641	c.1496T>C	c.(1495-1497)tTc>tCc	p.F499S	POF1B_ENST00000373145.3_Missense_Mutation_p.F499S	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	499							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTTAAATTGGAAGTCACTACA	0.358000													7	8					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111426001	111426001	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:111426001T>A	ENST00000436913.2	+	4	610	c.209T>A	c.(208-210)tTt>tAt	p.F70Y	LAYN_ENST00000533265.1_Missense_Mutation_p.F215Y|LAYN_ENST00000375614.2_Missense_Mutation_p.F215Y|LAYN_ENST00000375615.3_Missense_Mutation_p.F223Y|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Missense_Mutation_p.F223Y	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	223	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AAAAAAACATTTAAAGAAAGT	0.403000													11	14					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140641034	140641034	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:140641034C>T	ENST00000509479.2	-	5	3716	c.2860G>A	c.(2860-2862)Gga>Aga	p.G954R	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	950	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGGACTGTTCCCATAAGGCTC	0.577000													24	81					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694466	6694466	+	Missense_Mutation	SNP	C	C	T	rs146026441	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:6694466C>T	ENST00000245907.6	-	24	3222	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1044					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCAAGGCCCCCTGCCGCTTC	0.612000													21	42					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601599	7601599	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:7601599C>T	ENST00000342415.5	+	5	496	c.437C>T	c.(436-438)cCt>cTt	p.P146L		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	146					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GTTGAAGTTCCTTTGAATCAC	0.323000													19	59					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945591	16945591	+	RNA	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:16945591G>A	ENST00000412962.1	-	0	1928																											CTCCTTCAGAGACAAGGCCTG	0.602000													27	380					0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55474167	55474167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:55474167G>A	ENST00000371265.4	+	4	1083	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	277						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AAAGGTGGAGGAGAAGGAGGC	0.597000													12	24					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31776024	31776024	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:31776024G>A	ENST00000543095.2	-	31	5064	c.4880C>T	c.(4879-4881)tCc>tTc	p.S1627F	HEATR5A_ENST00000439348.1_Missense_Mutation_p.S1621F|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S1334F|HEATR5A_ENST00000389961.3_Missense_Mutation_p.S1621F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1621							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAACTGAATGGAAGGTGATTC	0.383000													7	24					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463994	6463994	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:6463994C>T	ENST00000358945.3	-	6	1604	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	SCNN1A_ENST00000543768.1_Silent_p.G411G|SCNN1A_ENST00000396966.2_Silent_p.G388G|SCNN1A_ENST00000540037.1_Silent_p.G88G|SCNN1A_ENST00000360168.3_Silent_p.G447G|SCNN1A_ENST00000228916.2_Silent_p.G388G|SCNN1A_ENST00000538979.1_5'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	388					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CATAATCGCCCCCAAGTCTGT	0.522000													29	85					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37848881	37848881	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:37848881G>A	ENST00000381967.4	+	10	1347	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	PGM2_ENST00000544359.1_Missense_Mutation_p.G277E|PGM2_ENST00000537241.1_Missense_Mutation_p.G256E	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	416					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATAGACCAGGGGAAAACTGTT	0.383000													6	27					0	0	1	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291310	126291310	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:126291310C>T	ENST00000383572.2	-	3	555	c.77G>A	c.(76-78)aGg>aAg	p.R26K	TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.R26K	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	26										endometrium(1)|large_intestine(2)|skin(2)	5						CAATCGTGCCCTCACAGGCTC	0.602000													10	35					0	0	1	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259788	90259788	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:90259788C>T	ENST00000471857.1	+	0	196																											ACATGAGGGTCCCCGCTCAGC	0.552000													39	48					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930215	45930215	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:45930215C>T	ENST00000275525.3	+	2	714	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	IGFBP1_ENST00000457280.1_Silent_p.L140L|IGFBP1_ENST00000468955.1_Silent_p.L140L	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	140						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TAATTTCCATCTGATGGCCCC	0.512000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	75					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081035	53081035	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:53081035C>T	ENST00000305901.5	-	1	1174	c.1047G>A	c.(1045-1047)agG>agA	p.R349R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	349					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		ACTTCCACATCCTCCGGAAGG	0.662000													11	35					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333110	57333110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:57333110C>T	ENST00000326441.9	-	7	941	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	PEG3_ENST00000423103.2_Missense_Mutation_p.R193Q|ZIM2_ENST00000601070.1_Missense_Mutation_p.R68Q|PEG3_ENST00000593695.1_Missense_Mutation_p.R67Q|ZIM2_ENST00000391708.3_Missense_Mutation_p.R68Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.R68Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.R68Q|PEG3_ENST00000598410.1_Missense_Mutation_p.R68Q|ZIM2_ENST00000599935.1_Missense_Mutation_p.R68Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	193					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGAAAGATCCCGCGGAGGCAT	0.542000													19	87					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57733268	57733268	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:57733268C>T	ENST00000269122.3	+	6	1123	c.849C>T	c.(847-849)caC>caT	p.H283H	CLTC_ENST00000393043.1_Silent_p.H283H|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	283	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTTATATCCACCTCTATGATC	0.358000			T	"""ALK, TFE3"""	"""ALCL, renal """								46	86					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7470658	7470658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:7470658G>A	ENST00000399422.4	+	5	849	c.801G>A	c.(799-801)tgG>tgA	p.W267*		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	267					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATATCATATGGAATATGTCTG	0.418000													22	34					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066489	67066489	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:67066489G>A	ENST00000315962.4	+	9	1817	c.1444G>A	c.(1444-1446)Gca>Aca	p.A482T	TRIM55_ENST00000276573.7_Missense_Mutation_p.A482T|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	482						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGTACGGAAGGCAGAAGTGGC	0.567000													6	34					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227656	39227656	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:39227656C>T	ENST00000340369.3	-	2	3509	c.3281G>A	c.(3280-3282)cGg>cAg	p.R1094Q	XIRP1_ENST00000396251.1_Missense_Mutation_p.R1094Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1094							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCAGCTTTCCGAAGACCGTC	0.592000													24	70					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452985	138452985	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:138452985G>A	ENST00000344876.4	-	1	644	c.258C>T	c.(256-258)atC>atT	p.I86I	PCDH18_ENST00000412923.2_Silent_p.I86I|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	86	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCCTATGCTGATTTCCCCAT	0.433000													33	110					0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334108	39334108	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:39334108G>A	ENST00000377726.2	-	1	352	c.309C>T	c.(307-309)ccC>ccT	p.P103P		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	103	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCCACAGCTGGGGCGGCAGC	0.662000													32	69					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003703	75003703	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:75003703C>T	ENST00000373359.2	-	1	1376	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	395	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTCCCCAGGCTCTCTAGCAT	0.478000													38	43					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152768620	152768620	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:152768620G>A	ENST00000367255.5	-	29	4243	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	SYNE1_ENST00000367253.4_Silent_p.F1214F|SYNE1_ENST00000341594.5_Silent_p.F1280F|SYNE1_ENST00000367248.3_Silent_p.F1204F|SYNE1_ENST00000448038.1_Silent_p.F1221F|SYNE1_ENST00000265368.4_Silent_p.F1214F|SYNE1_ENST00000413186.2_Silent_p.F1214F|SYNE1_ENST00000423061.1_Silent_p.F1221F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1214					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAGAGCCTTGAAAGAGCTGG	0.453000										HNSCC(10;0.0054)			11	26					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3298933	3298933	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:3298933C>T	ENST00000219596.1	-	4	1371	c.1332G>A	c.(1330-1332)ggG>ggA	p.G444G	MEFV_ENST00000541159.1_Silent_p.G233G|MEFV_ENST00000339854.4_Silent_p.G264G|MEFV_ENST00000536379.1_Silent_p.G233G	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	444					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTTCTCCTCCCCATAGGATC	0.527000													35	102					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183962449	183962449	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:183962449G>A	ENST00000455059.1	-	5	1000	c.546C>T	c.(544-546)ctC>ctT	p.L182L	ALG3_ENST00000418734.2_Silent_p.L166L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Silent_p.L222L|ALG3_ENST00000445626.2_Silent_p.L174L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	222					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTGTGTGAGGAGAAGAAACA	0.567000													9	16					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671215	127671215	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:127671215G>A	ENST00000508053.1	-	35	4753	c.3779C>T	c.(3778-3780)tCa>tTa	p.S1260L	FBN2_ENST00000507835.1_Missense_Mutation_p.S110L|FBN2_ENST00000508989.1_Missense_Mutation_p.S1227L|FBN2_ENST00000262464.4_Missense_Mutation_p.S1260L			P35556	FBN2_HUMAN	fibrillin 2	1260	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTTCCCTCTGAATTTGTGCA	0.453000													32	78					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39505881	39505881	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:39505881G>A	ENST00000265707.5	+	12	1110	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	ADAM18_ENST00000379866.1_Silent_p.K331K|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	355	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTGGTAGAAAGATTTTTAGCA	0.333000													12	28					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30694696	30694696	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:30694696C>T	ENST00000471646.1	-	11	1471	c.1053_splice	c.e11-1	p.G352_splice	CRHR2_ENST00000348438.4_Splice_Site_p.G379_splice|CRHR2_ENST00000341843.4_Splice_Site_p.G338_splice|CRHR2_ENST00000506074.2_Splice_Site_p.G352_splice	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	352					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACGAAGAAACCCTGGAAAGGA	0.592000													6	15					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221551	140221551	+	Silent	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140221551A>T	ENST00000531613.1	+	1	645	c.645A>T	c.(643-645)acA>acT	p.T215T	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.T215T|PCDHA6_ENST00000527624.1_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)			TGACAGCCACAGATGGGGGCA	0.478000													19	53					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155159801	155159801	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:155159801G>A	ENST00000368395.1	-	7	1324	c.1253C>T	c.(1252-1254)cCa>cTa	p.P418L	MUC1_ENST00000368392.3_Missense_Mutation_p.P207L|MUC1_ENST00000368398.3_Missense_Mutation_p.P173L|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000342482.4_Missense_Mutation_p.P109L|MUC1_ENST00000438413.1_Missense_Mutation_p.P172L|MUC1_ENST00000343256.5_Missense_Mutation_p.P146L|MUC1_ENST00000457295.2_Missense_Mutation_p.P207L|MUC1_ENST00000368389.2_Missense_Mutation_p.P111L|MUC1_ENST00000338684.5_Missense_Mutation_p.P167L|MUC1_ENST00000368390.3_Missense_Mutation_p.P198L|MUC1_ENST00000368393.3_Silent_p.S175S|MUC1_ENST00000368396.4_Missense_Mutation_p.P102L|MUC1_ENST00000337604.5_Missense_Mutation_p.P216L	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1198	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCCCGGGCTGGAAAGATGTC	0.597000			T	IGH@	B-NHL								24	73					0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46110637	46110637	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:46110637G>A	ENST00000006101.4	-	5	293	c.294C>T	c.(292-294)atC>atT	p.I98I	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	100					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						TCTTGTAGACGATGGTCATAC	0.517000													10	6					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970854	151970854	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:151970854G>A	ENST00000355193.2	-	7	1166	c.948C>T	c.(946-948)acC>acT	p.T316T	KMT2C_ENST00000262189.6_Silent_p.T316T					lysine (K)-specific methyltransferase 2C																		AATCCTGAAAGGTGCCGGCTC	0.433000													8	158					0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108380335	108380335	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:108380335C>T	ENST00000223528.2	+	8	1130	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	FKTN_ENST00000602661.1_Nonsense_Mutation_p.Q336*|FKTN_ENST00000448551.2_Nonsense_Mutation_p.Q336*|FKTN_ENST00000357998.5_Nonsense_Mutation_p.Q336*|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	336					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TTTAGCATTTCAGGATGCAGG	0.328000													9	14					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691504	31691504	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:31691504C>T	ENST00000375809.3	+	2	161	c.150C>T	c.(148-150)ttC>ttT	p.F50F	C6orf25_ENST00000375810.4_Silent_p.F50F|C6orf25_ENST00000480039.1_Silent_p.F50F|C6orf25_ENST00000375805.2_Silent_p.F50F	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	50						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CACCCAGCTTCCCGGCCTGCA	0.692000													65	202					0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	177309	177309	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:177309C>T	ENST00000323434.8	-	3	623	c.26G>A	c.(25-27)gGg>gAg	p.G9E	RPH3AL_ENST00000536489.2_Missense_Mutation_p.G9E|RPH3AL_ENST00000331302.7_Missense_Mutation_p.G9E	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	9					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTGATCATTCCCGCTGCCGAA	0.617000													13	27					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160049592	160049592	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:160049592C>T	ENST00000327245.5	-	14	2467	c.1620_splice	c.e14-1	p.E541_splice	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	541					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATCTTTTTCCTGGAAGAGA	0.493000													15	28					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42893196	42893196	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:42893196G>A	ENST00000342560.5	+	5	845	c.757G>A	c.(757-759)Gag>Aag	p.E253K	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E61K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	253	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTGGAGAACGAGGGTGGGTG	0.602000													27	28					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808204	18808204	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:18808204C>T	ENST00000400664.1	+	1	781	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	243						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGCCTCCGATGTTGACC	0.587000													14	47					0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74706502	74706502	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:74706502G>A	ENST00000261980.2	+	1	328	c.238G>A	c.(238-240)Ggg>Agg	p.G80R		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	80	Pro-rich.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GGGGCTTCTGGGGCCCGGGGG	0.736000													5	9					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233346276	233346276	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:233346276G>A	ENST00000304546.1	-	14	2139	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	ECEL1_ENST00000409941.1_Silent_p.F641F	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	643					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTTTCGCAGGAAGCGGCTGT	0.632000													12	22					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187209661	187209661	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:187209661G>A	ENST00000264692.4	+	15	1948	c.1615G>A	c.(1615-1617)Ggc>Agc	p.G539S	RP11-215A19.1_ENST00000505103.1_RNA|F11_ENST00000403665.2_Missense_Mutation_p.G591S			P03951	FA11_HUMAN	coagulation factor XI	591	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCATCTGGTAGGCATCACGAG	0.552000													32	48					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220160504	220160504	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:220160504C>T	ENST00000366923.3	-	20	3287	c.3018G>A	c.(3016-3018)caG>caA	p.Q1006Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1006					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCTTAGGCCCCTGCCCTTCTC	0.393000													22	101					0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95360152	95360152	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:95360152C>T	ENST00000371467.1	-	4	672	c.353G>A	c.(352-354)gGa>gAa	p.G118E	RBP4_ENST00000371469.2_Missense_Mutation_p.G116E|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.G118E			P02753	RET4_HUMAN	retinol binding protein 4, plasma	118					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CTACTCACTTCCTTTCTGGAG	0.557000													12	61					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480984	95480984	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:95480984G>A	ENST00000356884.6	-	5	2010	c.1943C>T	c.(1942-1944)aCc>aTc	p.T648I	BICD2_ENST00000375512.3_Missense_Mutation_p.T648I	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	648					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CAGCTCCGTGGTGCGGTCCAC	0.612000													56	130					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132396488	132396488	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:132396488C>T	ENST00000321867.4	+	13	1301	c.948_splice	c.e13-1	p.S317_splice		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	317	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GACTCTCAGTCCCTGGGCGAG	0.637000													6	32					0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109342872	109342872	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:109342872G>A	ENST00000370008.3	+	17	1530	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	494					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AGATTCAAAAGAATGGCCATA	0.348000													16	40					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	G	A	rs115882083	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4869718G>A	ENST00000322101.2	-	1	796	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000													18	41					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14769633	14769633	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:14769633G>A	ENST00000261170.3	-	25	3040	c.2904C>T	c.(2902-2904)acC>acT	p.T968T	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	968					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GGATGGCTATGGTGGAGCCAC	0.418000													36	71					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413290	124413290	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:124413290C>T	ENST00000306842.2	-	1	285	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGATGTTCTTCCTTGAGACAA	0.433000													19	25					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121504	62121504	+	Silent	SNP	G	G	A	rs8077780		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:62121504G>A	ENST00000433197.2	-	22	2873	c.2778C>T	c.(2776-2778)ccC>ccT	p.P926P		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	926	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGAAGTCGTCGGGGAGGGACC	0.597000													15	90					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54799122	54799122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:54799122C>T	ENST00000293379.4	-	12	1314	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	351					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGGTCCGATCCATGAGCAGGG	0.647000													13	15					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344963	53344963	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:53344963T>G	ENST00000595646.1	-	4	704	c.584A>C	c.(583-585)aAt>aCt	p.N195T	ZNF468_ENST00000390651.4_Missense_Mutation_p.N142T|ZNF468_ENST00000396409.4_Missense_Mutation_p.N142T|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATGGAGGGAATTATTTCCATA	0.343000													14	109					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660913	233660913	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:233660913C>T	ENST00000373566.3	+	15	1884	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	GIGYF2_ENST00000409196.3_Missense_Mutation_p.P535S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.P372S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P563S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.P541S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P562S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.P541S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	541	GYF.|Required for GRB10-binding (By similarity).				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTACAAAGATCCTCAGGGAGA	0.383000													19	42					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190842	32190842	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:32190842G>A	ENST00000375023.3	-	2	233	c.95C>T	c.(94-96)cCa>cTa	p.P32L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	32	EGF-like 1.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGGGTTCTGGGAAACTCCC	0.607000													61	221					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922342	24922342	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:24922342C>T	ENST00000329468.2	+	1	1802	c.1328C>T	c.(1327-1329)cCa>cTa	p.P443L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTATCCCTCCACTTTCCACC	0.527000													21	50					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41355778	41355778	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:41355778C>T	ENST00000301141.5	-	2	308	c.288G>A	c.(286-288)gaG>gaA	p.E96E	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	96					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CGCTGAACTCCTCAGCCTGGT	0.642000													14	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481221	179481221	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179481221C>T	ENST00000589042.1	-	257	48521	c.48297G>A	c.(48295-48297)cgG>cgA	p.R16099R	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.R7226R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R13531R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.R14458R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.R7034R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.R7159R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14458	Ig-like 99.						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)			TCCATGTTTTCCGGCTGACTT	0.428000													71	69					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510723	110510723	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:110510723T>C	ENST00000378402.5	+	66	10736	c.10632T>C	c.(10630-10632)ttT>ttC	p.F3544F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3544					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCCCTGGGTTTAATTGCTCTG	0.373000										HNSCC(38;0.096)			12	48					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51760091	51760091	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:51760091T>C	ENST00000447632.2	-	14	1394	c.1346A>G	c.(1345-1347)aAc>aGc	p.N449S	TTC39A_ENST00000530004.1_Missense_Mutation_p.N57S|TTC39A_ENST00000413473.2_Missense_Mutation_p.N417S|TTC39A_ENST00000371750.5_Missense_Mutation_p.N414S|TTC39A_ENST00000451380.1_Missense_Mutation_p.N413S|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000262675.7_Missense_Mutation_p.N386S			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	449							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CGAGATAGGGTTGGAGGAGAA	0.582000													14	21					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790163	20790163	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:20790163C>T	ENST00000359062.3	+	9	2171	c.2131C>T	c.(2131-2133)Ctt>Ttt	p.L711F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	711					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGCCGTATTCTTAGTCAGGT	0.328000													11	17					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34451086	34451086	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:34451086C>T	ENST00000374012.3	+	6	701	c.572C>T	c.(571-573)cCc>cTc	p.P191L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.P191L			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	191	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAAAAGCGACCCAAGCAGCCT	0.383000													47	60					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627021	170627021	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:170627021T>G	ENST00000476287.1	+	2	651	c.543T>G	c.(541-543)gaT>gaG	p.D181E	FAM120B_ENST00000540480.1_Missense_Mutation_p.D193E|FAM120B_ENST00000537664.1_Missense_Mutation_p.D204E|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	181					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AAGACACTGATTACCTAATCT	0.488000													25	69					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612060	142612060	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142612060C>T	ENST00000265310.1	-	11	1791	c.1443G>A	c.(1441-1443)atG>atA	p.M481I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	481					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.M481I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTTCTGGATCATGATGGTGA	0.552000													12	46					0	0	1	0	0
MOB3C	148932	broad.mit.edu	37	1	47075344	47075344	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:47075344C>T	ENST00000371940.1	-	3	3777	c.703G>A	c.(703-705)Gag>Aag	p.E235K	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.E264K|MOB3C_ENST00000319928.3_Missense_Mutation_p.E212K			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	212							metal ion binding	p.E264Q(1)									CAGATCCGCTCTGTCATCTCC	0.557000													14	31					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480106	10480106	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:10480106T>G	ENST00000382483.3	-	2	829	c.606A>C	c.(604-606)aaA>aaC	p.K202N	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	202					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCCTACCTTTTTCCCGCTGG	0.483000													50	131					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20146266	20146266	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:20146266G>A	ENST00000345530.3	-	16	1738	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	WDR35_ENST00000281405.4_Silent_p.S530S|WDR35_ENST00000416055.2_Silent_p.S106S	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	541										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAATTAAGGGAATATTTTT	0.378000													21	52					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541939	55541939	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:55541939G>C	ENST00000220676.1	+	4	5645	c.5497G>C	c.(5497-5499)Gac>Cac	p.D1833H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1833					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)			TTTTCATGAGGACTTGCTGGA	0.428000													11	20					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223396630	223396630	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:223396630C>T	ENST00000343846.3	-	7	2038	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.E469K|SUSD4_ENST00000454695.2_Missense_Mutation_p.E309K			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	469						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GATGCCACCTCCTCTGCCGTG	0.577000													22	58					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284087	223284087	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:223284087G>A	ENST00000540964.1	-	4	2748	c.2287C>T	c.(2287-2289)Ctt>Ttt	p.L763F	TLR5_ENST00000342210.6_Missense_Mutation_p.L763F			O60602	TLR5_HUMAN	toll-like receptor 5	763	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCATCTCTAAGGAAGTGTCTG	0.488000													17	41					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99913409	99913409	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:99913409G>A	ENST00000332397.6	+	7	1387	c.1201_splice	c.e7-1	p.E401_splice	SPDYE3_ENST00000437326.2_Splice_Site_p.E24_splice	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	401										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TAATCACAGAGGATCCTGTCA	0.512000													45	123					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651560	96651560	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:96651560C>T	ENST00000302103.5	+	3	855	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	177					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAGCACAAATCCCTTCGTGTT	0.458000													13	15					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831279	36831279	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:36831279C>T	ENST00000270001.7	-	5	1564	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TACCACATTCCTTACATTCAT	0.383000													15	35					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8113395	8113395	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:8113395G>A	ENST00000378641.3	+	1	572	c.97G>A	c.(97-99)Gat>Aat	p.D33N	PLCB1_ENST00000378637.2_Missense_Mutation_p.D33N|PLCB1_ENST00000338037.6_Missense_Mutation_p.D33N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	33				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAAGTGGGATGATGTAAGTAT	0.672000													11	22					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738942	138738942	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:138738942G>A	ENST00000329447.5	-	1	826	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	188	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCCGGTAGGGGATGAACATA	0.637000													12	51					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50779739	50779739	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:50779739C>T	ENST00000404971.1	-	10	3204	c.1865G>A	c.(1864-1866)aGa>aAa	p.R622K	NRXN1_ENST00000401669.2_Missense_Mutation_p.R582K|NRXN1_ENST00000406859.3_Missense_Mutation_p.R582K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.R574K|NRXN1_ENST00000402717.3_Missense_Mutation_p.R574K|NRXN1_ENST00000406316.2_Missense_Mutation_p.R582K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	582	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGTCCGTCTCTCTGGAAGTC	0.443000													27	78					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789663	133789663	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:133789663G>A	ENST00000321016.8	-	18	4187	c.3957C>T	c.(3955-3957)acC>acT	p.T1319T	IGSF9B_ENST00000533871.2_Silent_p.T1319T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1319	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGGGTGGTGGGGTCTCCGGTC	0.692000													3	9					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682579	100682579	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:100682579C>T	ENST00000306151.4	+	3	7946	c.7882C>T	c.(7882-7884)Cct>Tct	p.P2628S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2628	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)					AATCTCAACTCCTAGTGAAGT	0.453000													71	191					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892352	11892352	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11892352C>T	ENST00000357901.4	+	4	1815	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	ZNF441_ENST00000454339.2_Silent_p.L504L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATCTGATCTCTCAAGCTTTC	0.413000													4	13					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568001	142568001	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:142568001C>T	ENST00000392957.2	+	18	3429	c.2642C>T	c.(2641-2643)cCc>cTc	p.P881L	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.P604L|EPHB6_ENST00000442129.1_Missense_Mutation_p.P881L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	881	Poly-Pro.|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCGGCTGCCCCCGCCTCCA	0.537000													62	220					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9909924	9909924	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:9909924G>A	ENST00000506583.1	-	10	1178	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S	SLC2A9_ENST00000264784.3_Missense_Mutation_p.P350S|SLC2A9_ENST00000309065.3_Missense_Mutation_p.P321S			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	350					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATCTTTGCCGGAGGGATCCCA	0.473000													5	41					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831280	36831280	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:36831280T>A	ENST00000270001.7	-	5	1563	c.1448A>T	c.(1447-1449)aAg>aTg	p.K483M		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACCACATTCCTTACATTCATA	0.383000													15	34					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105830236	105830236	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:105830236G>A	ENST00000353479.5	-	9	845	c.555C>T	c.(553-555)atC>atT	p.I185I	COL17A1_ENST00000369733.3_Silent_p.I185I|COL17A1_ENST00000393211.3_Silent_p.I185I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	185	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTTTCTTGGGGATGGGGAGTG	0.537000													30	55					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567182	136567182	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:136567182G>A	ENST00000264162.2	-	8	2745	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	912	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCGGAAGAGGACACGCCCCA	0.517000													51	34					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393624	145393624	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:145393624G>A	ENST00000511217.1	+	4	1111	c.1059_splice	c.e4+1	p.Q353_splice	SH3RF2_ENST00000359120.4_Splice_Site_p.Q353_splice			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	353							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGTGGGACAGGTAGGGAAGA	0.517000													25	45					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155749210	155749210	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:155749210C>T	ENST00000281722.3	+	5	1828	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	531							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATCAGGCCTCCTTCTTCTGAA	0.348000													18	60					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559941	140559941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140559941C>T	ENST00000239444.2	+	1	2571	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		776					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTAATATTCAGGGCCATTC	0.428000													19	62					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990499	233990499	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:233990499C>T	ENST00000359570.5	+	4	394	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	INPP5D_ENST00000538935.1_Missense_Mutation_p.P132S|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	132					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAGAAACATCCCGCTGACTGC	0.592000													14	14					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927557	119927557	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:119927557C>T	ENST00000361035.4	+	5	764	c.481C>T	c.(481-483)Cta>Tta	p.L161L	HAO2_ENST00000325945.3_Silent_p.L148L	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	148	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GGTAGAATCCCTAGGTTTCAA	0.463000													22	54					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372267	34372267	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:34372267G>A	ENST00000297625.7	-	2	798	c.573C>T	c.(571-573)ctC>ctT	p.L191L		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	225					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGTAGCGCTCGAGGATGCCCC	0.657000													4	10					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991828	21991828	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:21991828G>A	ENST00000327430.3	-	2	2328	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.F541F	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	678							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGTGGCCCACGAAATGTGCAC	0.567000													21	45					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476213	120476213	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:120476213G>A	ENST00000355622.6	+	3	1908	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E563K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	603	LRRCT.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCTCTTGGTGGAAGTTGAACG	0.433000													6	22					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37818899	37818899	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:37818899G>A	ENST00000264741.5	+	24	2814	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	853					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAAGAGAAGGGAAACTGCTCT	0.433000													17	41					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969356	47969356	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:47969356G>A	ENST00000236877.6	-	2	700	c.305C>T	c.(304-306)tCa>tTa	p.S102L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	102					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTTCTCTTTTGACGTGATGAC	0.577000													14	28					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34684302	34684302	+	Silent	SNP	C	C	T	rs147248695		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:34684302C>T	ENST00000488417.1	+	7	1857	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	C1orf94_ENST00000373374.3_Silent_p.S389S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	389							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCTCGACATCCGGAGGGCCCT	0.448000													19	59					0	0	1	0	0
RAB15	376267	broad.mit.edu	37	14	65417755	65417755	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:65417755C>T	ENST00000267512.5	-	4	441	c.361G>A	c.(361-363)Ggt>Agt	p.G121S	RAB15_ENST00000533601.2_Intron|RAB15_ENST00000436278.2_Missense_Mutation_p.G75S|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Intron|CHURC1-FNTB_ENST00000542227.1_Intron	NM_198686.2	NP_941959.1	P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		GGTGAGGCACCCTCTCCACAC	0.582000													15	30					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431219	56431219	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:56431219G>A	ENST00000302969.2	+	1	82	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATCACCCAGGACCCTCAGAT	0.408000													22	78					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990385	89990385	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:89990385C>T	ENST00000405460.2	+	33	7908	c.7812C>T	c.(7810-7812)acC>acT	p.T2604T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2604					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCCCAAACCTTGGTGGAGC	0.458000													60	181					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105801078	105801078	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:105801078C>T	ENST00000353479.5	-	38	2920	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	COL17A1_ENST00000369733.3_Missense_Mutation_p.G877E	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	877	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCTCGGGGTCCTGGTGGGCC	0.642000													13	61					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50660663	50660663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:50660663G>A	ENST00000403097.1	-	18	2533	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	GRB10_ENST00000398812.2_Nonsense_Mutation_p.R591*|GRB10_ENST00000357271.5_Nonsense_Mutation_p.R545*|GRB10_ENST00000335866.3_Nonsense_Mutation_p.R533*|GRB10_ENST00000401949.1_Nonsense_Mutation_p.R591*|GRB10_ENST00000407526.1_Nonsense_Mutation_p.R533*|GRB10_ENST00000439599.1_Nonsense_Mutation_p.R585*|GRB10_ENST00000402578.1_Nonsense_Mutation_p.R533*|GRB10_ENST00000402497.1_Nonsense_Mutation_p.R533*|GRB10_ENST00000398810.2_Nonsense_Mutation_p.R533*|GRB10_ENST00000406641.1_Nonsense_Mutation_p.R533*			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	591					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAGGCCACTCGGATGCAGTGG	0.517000									Russell-Silver syndrome				19	74					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855016	79855016	+	Missense_Mutation	SNP	C	C	T	rs140339198		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:79855016C>T	ENST00000338682.3	-	5	1495	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	275						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GATAGTTCTTCCTCTGGTGTA	0.488000													22	54					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27412653	27412653	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:27412653G>A	ENST00000379214.4	-	4	832	c.389C>T	c.(388-390)gCt>gTt	p.A130V	LGR4_ENST00000480977.2_Intron|LGR4_ENST00000389858.4_Missense_Mutation_p.A106V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	130						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGACTGCAAAGCACTCAGCCC	0.383000													13	30					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44523740	44523740	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr20:44523740C>T	ENST00000372484.3	+	11	1392	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	CTSA_ENST00000354880.5_Silent_p.I353I|CTSA_ENST00000372459.2_Silent_p.I352I|CTSA_ENST00000191018.5_Silent_p.I352I	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	352					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCCTCAACATCCCGGAGCAGC	0.607000													17	38					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11982654	11982654	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:11982654G>A	ENST00000376576.3	-	2	2116	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	KIAA2013_ENST00000376572.3_Intron			Q8IYS2	K2013_HUMAN	KIAA2013	0						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGAGCAAGGCCAAGGCCTC	0.617000													6	13					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221584	59221584	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:59221584G>A	ENST00000262717.4	+	12	2460	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	CDH20_ENST00000538374.1_Missense_Mutation_p.E688K|CDH20_ENST00000536675.2_Missense_Mutation_p.E688K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	688					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAACCCCCGGGAGGCGCAGGC	0.682000													28	56					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1099233	1099233	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:1099233G>A	ENST00000441003.2	+	38	7239	c.7212G>A	c.(7210-7212)agG>agA	p.R2404R		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4766						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCTCACAGGGAGTACCAGG	0.627000													11	53					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206650147	206650147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:206650147C>T	ENST00000367120.3	+	7	1040	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.P138S	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	223	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCCCTTCATCCCCTTTGGTGG	0.627000													16	42					0	0	1	0	0
SPINK13	153218	broad.mit.edu	37	5	147665570	147665570	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:147665570C>T	ENST00000512953.1	+	6	775	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	SPINK13_ENST00000398450.4_Missense_Mutation_p.H82Y|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_Missense_Mutation_p.H42Y			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	82	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						TAGGGAATTTCATTATCGTAT	0.284000													16	34					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752106	62752106	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:62752106G>A	ENST00000377871.3	-	1	323	c.57C>T	c.(55-57)atC>atT	p.I19I	SLC22A6_ENST00000360421.4_Silent_p.I19I|SLC22A6_ENST00000458333.2_Silent_p.I19I|SLC22A6_ENST00000421062.2_Silent_p.I19I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	19					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGGTGACCTGGATCTGCTGGA	0.652000													8	15					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164175	12164175	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:12164175C>T	ENST00000379388.2	+	9	7970	c.7638C>T	c.(7636-7638)atC>atT	p.I2546I	HIVEP1_ENST00000541134.1_Silent_p.I411I	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2546					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCTCCAGATCTTGAACATAG	0.542000													14	55					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257041	114257041	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:114257041C>T	ENST00000306507.5	+	1	381	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	70					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GGTTGCGCTTCCCCGAGAGCA	0.692000													60	24					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56559231	56559231	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:56559231G>A	ENST00000394023.3	-	27	3208	c.3103C>T	c.(3103-3105)Cca>Tca	p.P1035S	SMARCC2_ENST00000347471.4_Missense_Mutation_p.P1035S|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P1035S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P1004S	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1004	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAACTTCCTGGAGGGGCCCCA	0.672000													13	32					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95537348	95537348	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:95537348C>T	ENST00000371418.4	+	4	665	c.405C>T	c.(403-405)ttC>ttT	p.F135F	LGI1_ENST00000542308.1_Intron|LGI1_ENST00000371413.3_Silent_p.F135F	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	135					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GACATACTTTCCGGGGACTAA	0.323000													9	21					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6645673	6645673	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:6645673G>A	ENST00000229239.5	+	3	709	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	GAPDH_ENST00000396859.1_Missense_Mutation_p.G15R|GAPDH_ENST00000396856.1_5'UTR|GAPDH_ENST00000396861.1_Missense_Mutation_p.G15R|GAPDH_ENST00000396858.1_5'UTR	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	15	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	TGGTCGTATTGGGCGCCTGGT	0.512000													33	72					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004661	248004661	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:248004661C>T	ENST00000355784.2	-	1	593	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D180N(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)			GGCGGGAGGTCGCAGAAGAAA	0.507000													23	76					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35517115	35517115	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:35517115C>T	ENST00000400445.3	+	1	692	c.158C>T	c.(157-159)tCg>tTg	p.S53L	NBEA_ENST00000379939.2_Missense_Mutation_p.S53L|NBEA_ENST00000310336.4_Missense_Mutation_p.S53L|NBEA_ENST00000540320.1_Missense_Mutation_p.S53L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	53						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGCTCCGGCTCGGTGATGCTC	0.682000													6	39					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907852	12907852	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:12907852C>T	ENST00000317869.6	-	2	516	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTGATCGTTTCACACCTGCGT	0.493000													6	88					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42576563	42576563	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:42576563G>A	ENST00000433647.1	+	12	1608	c.984G>A	c.(982-984)aaG>aaA	p.K328K	VIPR1_ENST00000543411.1_Silent_p.K321K|VIPR1_ENST00000438259.2_Silent_p.K159K|VIPR1_ENST00000325123.4_Silent_p.K369K	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	369					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGAAGTGAAGATGGTCTTTG	0.502000													39	123					0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079522	122079522	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:122079522C>T	ENST00000330079.7	+	2	1078	c.885C>T	c.(883-885)ccC>ccT	p.P295P		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	293					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GGGACCACCCCCTGACGCCCG	0.627000													18	46					0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88731887	88731887	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:88731887G>A	ENST00000226284.5	+	6	443	c.376G>A	c.(376-378)Ggg>Agg	p.G126R		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	126	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AGGGTATACAGGGTTAGCTGC	0.408000													18	70					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24721977	24721977	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:24721977G>A	ENST00000376454.3	+	4	637	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	KIAA1217_ENST00000376452.3_Missense_Mutation_p.E203K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E123K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E203K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E124K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	203					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						GATGCCGAATGAAATCACAAG	0.483000													10	33					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162459366	162459366	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:162459366C>T	ENST00000306100.5	-	10	1700	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	FSTL5_ENST00000427802.2_Missense_Mutation_p.D421N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D421N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D421N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	422	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTCTTCATCCACTCCTGCT	0.423000													39	80					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77812744	77812744	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:77812744G>A	ENST00000216468.7	-	3	330	c.275C>T	c.(274-276)gCc>gTc	p.A92V		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	92					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTTCACCAAGGCCTGAGCCTC	0.532000													20	53					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563568	140563568	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140563568A>T	ENST00000361016.2	+	1	2589	c.1434A>T	c.(1432-1434)agA>agT	p.R478S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		478	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACAGACAGAGACTCAGGCA	0.647000													14	36					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27279648	27279648	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:27279648G>A	ENST00000360131.4	+	8	1682	c.1523G>A	c.(1522-1524)gGg>gAg	p.G508E	AGBL5_ENST00000323064.8_Missense_Mutation_p.G508E	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	508					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGCCTCAGGGATAATCCAC	0.488000													32	87					0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661246	116661246	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:116661246C>T	ENST00000542499.1	-	4	771	c.699G>A	c.(697-699)cgG>cgA	p.R233R	APOA5_ENST00000227665.4_Silent_p.R233R	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	233					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCGTGAGCTTCCGGGAGAGCA	0.701000													51	54					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233347	43233347	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:43233347G>A	ENST00000327495.5	-	5	1355	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	PSG3_ENST00000595140.1_Missense_Mutation_p.L391F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	391	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CAAGCATAGAGCCCGCTATGC	0.458000													56	142					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072975	98072975	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:98072975C>T	ENST00000354924.2	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AGAATTATTTCCCTGTATGAA	0.433000													64	175					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140027	178140027	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:178140027G>A	ENST00000335815.2	-	5	1049	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	284					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GTTTATAAAGGGATGTACTGA	0.378000													20	52					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39594361	39594361	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:39594361C>T	ENST00000246646.3	-	6	1224	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	409	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCCTCGCTTTCCAGAAGGTTC	0.547000													9	25					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097784	85097784	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:85097784G>A	ENST00000335459.5	-	2	439	c.234C>T	c.(232-234)ttC>ttT	p.F78F	TRABD2A_ENST00000409133.1_Silent_p.F78F|TRABD2A_ENST00000409520.2_Silent_p.F78F	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		TGCTCTGCAGGAAAGCCTCCT	0.527000													9	5					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109273436	109273436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:109273436C>T	ENST00000370017.3	+	9	2042	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	FNDC7_ENST00000271311.2_Nonsense_Mutation_p.Q590*	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	590	Fibronectin type-III 7.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCACACTCATCAAAACCACTG	0.478000													20	70					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197655	44197655	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:44197655C>T	ENST00000393841.1	+	6	817	c.326C>T	c.(325-327)tCc>tTc	p.S109F	SLC29A1_ENST00000371740.5_Missense_Mutation_p.S109F|SLC29A1_ENST00000427851.2_Missense_Mutation_p.S109F|SLC29A1_ENST00000371731.1_Missense_Mutation_p.S109F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000393844.1_Missense_Mutation_p.S109F|SLC29A1_ENST00000371713.1_Missense_Mutation_p.S109F|SLC29A1_ENST00000371755.3_Missense_Mutation_p.S109F|SLC29A1_ENST00000371708.1_Missense_Mutation_p.S109F|SLC29A1_ENST00000313248.7_Missense_Mutation_p.S188F|SLC29A1_ENST00000371724.1_Missense_Mutation_p.S109F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	109					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	ATCCCCCAGTCCGTACGGATC	0.622000													11	40					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225612	9225612	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:9225612C>T	ENST00000293614.1	-	1	827	c.828G>A	c.(826-828)gtG>gtA	p.V276V	OR7G1_ENST00000541538.1_Silent_p.V276V			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CAGTGTACATCACTGAAGCCA	0.443000													24	49					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186002490	186002490	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:186002490G>A	ENST00000265022.3	-	7	1092	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	DGKG_ENST00000382164.4_Missense_Mutation_p.R185C|DGKG_ENST00000344484.4_Missense_Mutation_p.R185C|DGKG_ENST00000544847.1_Missense_Mutation_p.R185C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	185	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCATAGAGGCGAAACATGACT	0.488000													16	34					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88913279	88913279	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:88913279G>A	ENST00000303236.3	-	2	702	c.401C>T	c.(400-402)tCc>tTc	p.S134F	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	134					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CAAGGAACCGGATCCCACATC	0.378000													62	166					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2226162	2226162	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:2226162C>T	ENST00000326181.6	+	19	1991	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	620					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TTCAGTGCATCCTACGACCGG	0.682000													8	25					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777697	137777697	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:137777697G>A	ENST00000350339.2	+	5	413	c.399G>A	c.(397-399)ggG>ggA	p.G133G	FCN2_ENST00000291744.6_Silent_p.G171G	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	171	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GTCGGCTGGGGGAGTTCTGGC	0.672000													14	58					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2237522	2237522	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:2237522A>G	ENST00000378536.4	+	6	1903	c.1831A>G	c.(1831-1833)Aac>Gac	p.N611D		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	611					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGCCAAGCGTAACCTGCGGAA	0.667000													6	10					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355449	31355449	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:31355449G>A	ENST00000542188.1	-	7	1201	c.888C>T	c.(886-888)ggC>ggT	p.G296G	TRPM1_ENST00000256552.6_Silent_p.G279G|TRPM1_ENST00000397795.2_Silent_p.G257G	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	257					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACGTTAGGGCCCCCCTCCA	0.612000													30	71					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931375	62931375	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:62931375G>A	ENST00000306494.6	-	9	1564	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	522					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCAAGAAGAGGCTGGTTCCT	0.507000													40	76					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102573848	102573848	+	Splice_Site	SNP	T	T	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:102573848T>A	ENST00000260229.4	-	3	434	c.341_splice	c.e3-1	p.I115_splice		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	115					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TAGTTTATTATTCTTAAAAAT	0.343000													9	21					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124970	119124970	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:119124970G>A	ENST00000328252.3	+	18	4816	c.4447G>A	c.(4447-4449)Gag>Aag	p.E1483K	PAPPA_ENST00000534838.1_Missense_Mutation_p.E521K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1483	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGTTCCAAACGAGCTCAACAG	0.557000													16	34					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863112	55863112	+	Missense_Mutation	SNP	C	C	T	rs111636907	byFrequency	TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:55863112C>T	ENST00000327335.4	-	1	810	c.811G>A	c.(811-813)Gga>Aga	p.G271R	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACAGTTACTCCTTTGCTTAAA	0.383000													18	53					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20057522	20057522	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:20057522C>T	ENST00000396085.1	+	12	3147	c.2786C>T	c.(2785-2787)tCc>tTc	p.S929F	NAV2_ENST00000311043.8_Missense_Mutation_p.S15F|NAV2_ENST00000540292.1_Missense_Mutation_p.S883F|NAV2_ENST00000360655.4_Missense_Mutation_p.S865F|NAV2_ENST00000396087.3_Missense_Mutation_p.S952F|NAV2_ENST00000527559.2_Missense_Mutation_p.S881F|NAV2_ENST00000349880.4_Missense_Mutation_p.S929F|NAV2_ENST00000533917.1_Missense_Mutation_p.S15F	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	952						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GACAGCAGCTCCGTCAGCAGC	0.542000													6	38					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300651	41300651	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:41300651C>T	ENST00000347132.5	+	12	1708	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	KCNQ4_ENST00000509682.2_Silent_p.F488F|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	542					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TTCTCAAGTTCCTGGTGGCCA	0.557000													19	59					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39438411	39438411	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:39438411G>A	ENST00000280481.7	+	16	7867		c.e16-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTTATCATAGGCATGCTCCC	0.403000													10	34					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585803	42585803	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:42585803C>T	ENST00000289957.2	+	4	444	c.316C>T	c.(316-318)Cca>Tca	p.P106S		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	106					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATTAAAGTTCCATCAGAATC	0.353000													8	33					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100454707	100454707	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:100454707C>T	ENST00000395996.1	+	23	3400	c.3289C>T	c.(3289-3291)Cct>Tct	p.P1097S	VPS13B_ENST00000358544.2_Missense_Mutation_p.P1097S|VPS13B_ENST00000357162.2_Missense_Mutation_p.P1097S			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1097					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTGACATTCCTGGAACAGT	0.408000													14	44					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324492	24324492	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:24324492C>T	ENST00000175238.6	+	6	653	c.570C>T	c.(568-570)tcC>tcT	p.S190S	ADAM7_ENST00000380789.1_Silent_p.S190S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Silent_p.S190S|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	190					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGAAGACTCCAAAATAAAAG	0.348000													18	54					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207639965	207639965	+	Silent	SNP	T	T	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:207639965T>C	ENST00000367057.3	+	2	342	c.153T>C	c.(151-153)tgT>tgC	p.C51C	CR2_ENST00000367058.3_Silent_p.C51C|CR2_ENST00000367059.3_Silent_p.C51C|CR2_ENST00000458541.2_Silent_p.C51C	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	51	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTACAGTTGTTCAGGTACCT	0.423000													39	89					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1804710	1804710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:1804710G>A	ENST00000340107.4	+	8	1256	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Intron|FGFR3_ENST00000440486.2_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	335	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCGGGACGGGGGCGAGTACCT	0.647000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	8					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302253	31302253	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:31302253C>T	ENST00000265071.2	+	6	1112	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S	CDH6_ENST00000514738.1_Missense_Mutation_p.P228S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	283	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCTTCTCCACCGGGGACACC	0.423000													7	24					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18692116	18692116	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:18692116G>A	ENST00000251296.1	+	6	1323	c.940G>A	c.(940-942)Gac>Aac	p.D314N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	314						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCCACAGATCGACAACGAGGC	0.642000													21	59					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281234	142281234	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:142281234A>T	ENST00000350721.4	-	4	1131	c.1010T>A	c.(1009-1011)cTt>cAt	p.L337H	ATR_ENST00000383101.3_Missense_Mutation_p.L337H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	337					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATCAGACTTAAGCCGCATGAG	0.403000								Other conserved DNA damage response genes					19	47					0	0	1	0	0
TMEM231	79583	broad.mit.edu	37	16	75573925	75573925	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:75573925G>A	ENST00000398114.2	-	6	1043	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	TMEM231_ENST00000258173.6_Silent_p.P306P|RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Silent_p.P258P	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	306						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGTCTCCCCGGGGCGTCACTG	0.488000													7	11					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229256	140229256	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:140229256C>T	ENST00000378122.3	+	1	1900	c.1176C>T	c.(1174-1176)caC>caT	p.H392H	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.H392H|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCACGTCCCCTTCA	0.557000													36	74					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050216	42050216	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:42050216G>T	ENST00000372584.1	-	3	1267	c.253C>A	c.(253-255)Ccc>Acc	p.P85T	HIVEP3_ENST00000372583.1_Missense_Mutation_p.P85T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P85T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P85T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	85					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTTCGATGGGGGGCCTTTTG	0.612000													56	155					5.86059e-21	5.97151e-21	1	1	0
LMX1B	4010	broad.mit.edu	37	9	129453307	129453307	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:129453307G>A	ENST00000355497.5	+	3	526	c.519G>A	c.(517-519)aaG>aaA	p.K173K	LMX1B_ENST00000425646.2_Silent_p.K150K|LMX1B_ENST00000373474.4_Silent_p.K173K|LMX1B_ENST00000561065.1_Silent_p.K150K|LMX1B_ENST00000526117.1_Silent_p.K173K	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	150					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGAAGGAGAAGGACCTGCTCA	0.657000									Nail-Patella Syndrome				5	15					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7669782	7669782	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:7669782C>T	ENST00000572933.1	+	22	5118	c.3658C>T	c.(3658-3660)Ctt>Ttt	p.L1220F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L1220F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1220	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCCAAGGACCTTCAGAACCT	0.572000													10	27					0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71903350	71903350	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:71903350G>A	ENST00000393679.1	+	2	569	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.E45K|FOLR1_ENST00000393681.2_Missense_Mutation_p.E45K|FOLR1_ENST00000312293.4_Missense_Mutation_p.E45K			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	45					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GCACCACAAGGAAAAGCCAGG	0.577000													15	52					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011567	68011567	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:68011567G>A	ENST00000268793.4	-	6	1370	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	308					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGAAGCTGCAGGATATCATCG	0.512000													7	6					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720863	21720863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:21720863C>T	ENST00000358491.4	+	4	2216	c.2008C>T	c.(2008-2010)Cga>Tga	p.R670*	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						gtcaggagatcgagaccgtcc	0.468000													4	11					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400899	11400899	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:11400899G>A	ENST00000002596.5	-	2	1905	c.731C>T	c.(730-732)tCg>tTg	p.S244L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	244						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTAGAAGTTCGAAGCATTGAT	0.572000													7	35					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756641	122756641	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:122756641C>T	ENST00000245838.8	-	30	3784	c.3753G>A	c.(3751-3753)ggG>ggA	p.G1251G	THOC2_ENST00000355725.4_Silent_p.G1251G|THOC2_ENST00000491737.1_Silent_p.G1136G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1251					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGCTTGAATTCCCTTTAGGTG	0.318000													3	8					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887382	9887382	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr18:9887382C>T	ENST00000306084.6	+	2	1105	c.906C>T	c.(904-906)tcC>tcT	p.S302S	TXNDC2_ENST00000357775.4_Silent_p.S235S|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	302	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCCCCAAGTCCCTAGAGGAAG	0.602000													20	59					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875558	247875558	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:247875558G>A	ENST00000302084.2	-	1	547	c.500C>T	c.(499-501)tCc>tTc	p.S167F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCCACAGAAGGACAGGCCACT	0.602000													30	68					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790760	4790760	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4790760C>T	ENST00000380383.1	-	1	408	c.409G>A	c.(409-411)Gac>Aac	p.D137N	OR51F1_ENST00000343430.3_Missense_Mutation_p.D130N|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	130						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCAGAGGGTCACAGATGGCC	0.408000													16	43					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48605326	48605326	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:48605326G>A	ENST00000358350.4	-	12	1518	c.914C>T	c.(913-915)tCg>tTg	p.S305L	FRYL_ENST00000503238.1_Missense_Mutation_p.S305L|FRYL_ENST00000507711.1_Missense_Mutation_p.S305L|FRYL_ENST00000506685.1_Missense_Mutation_p.S11L|FRYL_ENST00000537810.1_Missense_Mutation_p.S305L|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTCTTTCTCGAGCTCAGTTC	0.289000													14	39					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118533514	118533514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:118533514C>T	ENST00000336338.5	-	38	5556	c.5491G>A	c.(5491-5493)Gag>Aag	p.E1831K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1831						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTAGTTTCCTCCATTTTAGGG	0.284000													24	68					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153721217	153721217	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:153721217C>T	ENST00000318967.2	+	6	1138	c.570C>T	c.(568-570)atC>atT	p.I190I	RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Silent_p.I190I|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	191					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTCTGGATATCCTGACAGAGC	0.468000													47	124					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51920487	51920487	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:51920487C>T	ENST00000371117.3	-	19	2009	c.1734G>A	c.(1732-1734)ggG>ggA	p.G578G	PKHD1_ENST00000340994.4_Silent_p.G578G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	578					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGGCTCCGTCCCACTGGTGA	0.527000													9	36					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485030	97485030	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr13:97485030G>A	ENST00000376705.2	+	2	1018	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	332						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GAACGAGAGTGAAAGAAACAC	0.488000													23	44					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25194660	25194660	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:25194660C>T	ENST00000409280.1	-	6	873	c.565G>A	c.(565-567)Gct>Act	p.A189T	C7orf31_ENST00000283905.3_Missense_Mutation_p.A189T			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	189										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GAATCATAAGCCTTGGTTGGC	0.453000													16	25					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73039664	73039664	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:73039664G>A	ENST00000335350.6	+	2	582	c.166G>A	c.(166-168)Gac>Aac	p.D56N	UNC5B_ENST00000373192.4_Missense_Mutation_p.D56N	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	56	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGAGCCACAGGACGCCTACAT	0.617000													13	28					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89954007	89954007	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:89954007C>T	ENST00000405460.2	+	21	4760	c.4664C>T	c.(4663-4665)tCg>tTg	p.S1555L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1555					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCGTATTTCGGAAGAAAAT	0.353000													18	74					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65871640	65871640	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:65871640C>T	ENST00000395325.3	+	16	2301	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	DNAJC6_ENST00000263441.7_Missense_Mutation_p.P702L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.P772L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	715	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AAGGCGTCTCCCCAGCCTATG	0.592000													21	37					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167663498	167663498	+	Missense_Mutation	SNP	G	G	A	rs145248380		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:167663498G>A	ENST00000367854.3	+	5	764	c.433G>A	c.(433-435)Gac>Aac	p.D145N	RCSD1_ENST00000537350.1_Missense_Mutation_p.D115N	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	145										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					TGTCAGCTTCGACCAGCCCCC	0.582000													12	20					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936891	15936891	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:15936891G>C	ENST00000504595.1	+	4	1553	c.1072G>C	c.(1072-1074)Gcg>Ccg	p.A358P	FBXL7_ENST00000510662.1_Missense_Mutation_p.A311P|FBXL7_ENST00000329673.7_Missense_Mutation_p.A346P	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	358					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTGAGCATCGCGCACTGCGG	0.667000													9	12					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617400	70617400	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:70617400C>T	ENST00000260126.3	-	6	2194	c.1488G>A	c.(1486-1488)ttG>ttA	p.L496L	SLCO5A1_ENST00000524945.1_Silent_p.L496L|SLCO5A1_ENST00000530307.1_Silent_p.L441L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	496						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACCAAGTTTCAATTTTTTTA	0.403000													17	41					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552000													58	86					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490280	150490280	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:150490280G>A	ENST00000447204.2	-	5	868	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166C|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129C|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166C|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166C|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166C	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCTGAGCGATCACACACA	0.507000													25	58					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096710	51096710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:51096710G>A	ENST00000395542.2	-	12	2513	c.2329C>T	c.(2329-2331)Cca>Tca	p.P777S	COBL_ENST00000265136.7_Missense_Mutation_p.P695S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	695										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTTTCCCTGGGTTTTGGCCT	0.488000													21	46					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160474331	160474331	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr3:160474331G>A	ENST00000498165.1	+	1	336	c.235G>A	c.(235-237)Gag>Aag	p.E79K	PPM1L_ENST00000497343.1_Missense_Mutation_p.E79K	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	79					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGATGTGCTCGAGGCCGAGTT	0.582000													12	24					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125526566	125526566	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:125526566C>T	ENST00000241305.3	-	10	1556	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	468					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTCTGTCGATCCTCTGCCTCC	0.512000													18	50					0	0	1	0	0
CYB561	1534	broad.mit.edu	37	17	61511954	61511954	+	Splice_Site	SNP	C	C	T	rs77535447		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:61511954C>T	ENST00000392976.1	-	6	864	c.563_splice	c.e6-1	p.G189_splice	CYB561_ENST00000392975.2_Splice_Site_p.G189_splice|CYB561_ENST00000542042.1_Splice_Site_p.G256_splice|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582997.1_Splice_Site_p.G196_splice|CYB561_ENST00000360793.3_Splice_Site_p.G189_splice|CYB561_ENST00000448884.2_Splice_Site_p.G136_splice|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582034.1_Splice_Site_p.G160_splice|CYB561_ENST00000581573.1_Splice_Site_p.G189_splice|CYB561_ENST00000581163.1_5'UTR	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	189	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CTATACTTGCCCCTGCAGGGG	0.607000													5	29					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35714779	35714779	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:35714779G>A	ENST00000314888.9	-	22	3202	c.2849C>T	c.(2848-2850)cCc>cTc	p.P950L	TLN1_ENST00000540444.1_Missense_Mutation_p.P950L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	950					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGCAGGGGCTGGGGGCC	0.597000													29	85					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74526909	74526909	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:74526909G>A	ENST00000422840.2	-	7	1179	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	GLG1_ENST00000205061.5_Missense_Mutation_p.R394C|GLG1_ENST00000447066.2_Missense_Mutation_p.R383C	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	394						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTGGCTTCACGCGATCGCGGA	0.408000													18	14					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487661	56487661	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:56487661C>T	ENST00000267101.3	+	13	2034	c.1594C>T	c.(1594-1596)Cac>Tac	p.H532Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.H473Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	532					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGTGTGACCCACTGCAACTT	0.562000													37	76					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406262	38406262	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr5:38406262C>T	ENST00000322350.5	+	7	1093	c.747C>T	c.(745-747)ccC>ccT	p.P249P	EGFLAM_ENST00000354891.3_Silent_p.P249P|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.P15P	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	249						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTATGGACCCCGTTATATCA	0.483000													17	40					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30136134	30136134	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:30136134G>A	ENST00000376694.4	+	3	1004	c.535G>A	c.(535-537)Gag>Aag	p.E179K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	179					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCTGCAGCAGGAGCTGGAGCA	0.522000													15	37					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085682	92085682	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:92085682G>A	ENST00000298047.6	+	1	421	c.404G>A	c.(403-405)gGa>gAa	p.G135E	FAT3_ENST00000541502.1_Missense_Mutation_p.G135E|FAT3_ENST00000409404.2_Missense_Mutation_p.G135E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	135	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGTCAGAGGAGAGGATTTG	0.353000										TCGA Ovarian(4;0.039)			143	338					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855624	2855624	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr8:2855624G>A	ENST00000602557.1	-	55	8844	c.8289C>T	c.(8287-8289)ttC>ttT	p.F2763F	CSMD1_ENST00000542608.1_Silent_p.F2704F|CSMD1_ENST00000537824.1_Silent_p.F2762F|CSMD1_ENST00000400186.3_Silent_p.F2705F|CSMD1_ENST00000602723.1_Silent_p.F2705F|CSMD1_ENST00000520002.1_Silent_p.F2763F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2763	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGCAGGTGAAATTCACGA	0.557000													19	55					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53187985	53187985	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr12:53187985C>T	ENST00000417996.2	-	2	850	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	KRT3_ENST00000309505.3_Missense_Mutation_p.R259Q	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	259	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGGTAGCTCCGCAGGTAGTT	0.532000													37	125					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974675	79974675	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:79974675G>A	ENST00000306729.7	+	15	1784		c.e15-1		ASPSCR1_ENST00000580534.1_Splice_Site|ASPSCR1_ENST00000582404.1_Splice_Site|ASPSCR1_ENST00000306739.4_Splice_Site	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1								protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTCCCTGCAGGTGTCTACCT	0.672000			T	TFE3	alveolar soft part sarcoma								18	19					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370213	1370213	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr16:1370213C>T	ENST00000355803.4	+	5	813	c.262C>T	c.(262-264)Cct>Tct	p.P88S	UBE2I_ENST00000406620.1_Missense_Mutation_p.P88S|UBE2I_ENST00000566587.1_Missense_Mutation_p.P88S|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000325437.5_Missense_Mutation_p.P88S|UBE2I_ENST00000403747.2_Missense_Mutation_p.P88S|UBE2I_ENST00000402301.1_Missense_Mutation_p.P88S|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P88S|UBE2I_ENST00000397515.2_Missense_Mutation_p.P88S	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	88				VYPS -> GVPF (in Ref. 6; AAC50603).	cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GAATGTGTACCCTTCGGGGAC	0.552000													18	35					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62026124	62026124	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:62026124G>A	ENST00000578147.1	-	16	3067	c.2989_splice	c.e16-1	p.A997_splice	SCN4A_ENST00000435607.1_Splice_Site_p.A997_splice			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	997					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCTGCACGCAGGCTGATGGGG	0.652000													5	45					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40099190	40099190	+	Splice_Site	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:40099190G>A	ENST00000261435.6	+	3	645		c.e3+1			NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2							cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GATTTCAAAGGTGAGAAAAAG	0.323000													6	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179445168	179445168	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:179445168G>C	ENST00000589042.1	-	317	67162	c.66938C>G	c.(66937-66939)aCt>aGt	p.T22313S	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13440S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T19745S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T20672S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13248S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T13373S|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20672	Fibronectin type-III 62.						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)			GTCAAAGTCAGTTGACTTTAT	0.388000													14	67					0	0	1	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66293621	66293621	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:66293621C>T	ENST00000419755.3	+	12	1327	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.R251W|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.R380W|BBS1_ENST00000455748.2_Missense_Mutation_p.R283W																							TTGCTTTGGCCGGTACGGGCG	0.562000													16	52					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68620560	68620560	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:68620560C>T	ENST00000423218.2	-	16	2037	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	ITGA11_ENST00000315757.7_Missense_Mutation_p.E648K			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	648					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TTGGATGGCTCAAAGTGGAGG	0.627000													33	67					0	0	1	0	0
PALM2	114299	broad.mit.edu	37	9	112694261	112694261	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:112694261G>A	ENST00000448454.2	+	7	455	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q|PALM2_ENST00000374531.2_Intron|PALM2_ENST00000483909.1_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTCTGTTCACGAACAGCAGAA	0.537000													38	87					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220028152	220028152	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:220028152G>A	ENST00000455516.2	-	10	1470	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L	SLC23A3_ENST00000409878.3_Silent_p.L467L|SLC23A3_ENST00000295738.7_Silent_p.L350L|SLC23A3_ENST00000396775.3_3'UTR	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	467					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTTGGCAGCAGCAAGGCC	0.527000													4	162					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645824	186645824	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:186645824G>A	ENST00000367468.5	-	7	881	c.745C>T	c.(745-747)Cct>Tct	p.P249S	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	249					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ACTGTGGGAGGATACATCTCT	0.383000													7	20					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73240700	73240700	+	Splice_Site	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr17:73240700C>T	ENST00000245541.6	-	4	516	c.300_splice	c.e4+1	p.K100_splice	GGA3_ENST00000579743.1_5'UTR|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000582486.1_Splice_Site_p.K28_splice|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Splice_Site_p.K28_splice|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000537686.1_Splice_Site_p.K100_splice	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	100	Binds to ARF1 (in long isoform).|VHS.				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)			GCTGACTGACCTTTGGAGAGA	0.478000													36	188					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287465	202287465	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:202287465G>A	ENST00000367278.3	+	18	2123	c.2034G>A	c.(2032-2034)ggG>ggA	p.G678G	LGR6_ENST00000439764.2_Silent_p.G539G|LGR6_ENST00000255432.7_Silent_p.G626G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	678						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGCCTATGGGAAGTCCCCCT	0.682000													7	12					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11170485	11170485	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:11170485C>T	ENST00000358026.2	+	34	5072	c.4788C>T	c.(4786-4788)atC>atT	p.I1596I	SMARCA4_ENST00000429416.3_Silent_p.I1564I|SMARCA4_ENST00000444061.3_Silent_p.I1530I|SMARCA4_ENST00000589677.1_Silent_p.I1533I|SMARCA4_ENST00000541122.2_Silent_p.I1534I|SMARCA4_ENST00000590574.1_Silent_p.I1531I|SMARCA4_ENST00000413806.3_Silent_p.I1534I|SMARCA4_ENST00000344626.4_Silent_p.I1564I|SMARCA4_ENST00000450717.3_Silent_p.I1533I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1564					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCAGAAAATCgagaaggagg	0.592000			"""F, N, Mis"""		NSCLC								4	10					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770204	31770204	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:31770204G>A	ENST00000240587.4	-	2	822	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	165					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGCCAGTCGAAGCTCCCgc	0.642000													8	14					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42418267	42418267	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr22:42418267C>T	ENST00000328823.9	+	5	452	c.421C>T	c.(421-423)Cca>Tca	p.P141S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P67S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	141					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCGAGGATTTCCACTTAGAAC	0.373000													23	48					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480983	95480983	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr9:95480983G>A	ENST00000356884.6	-	5	2011	c.1944C>T	c.(1942-1944)acC>acT	p.T648T	BICD2_ENST00000375512.3_Silent_p.T648T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	648					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACAGCTCCGTGGTGCGGTCCA	0.617000													56	131					0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58003535	58003535	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr19:58003535C>T	ENST00000424930.2	+	4	486	c.257C>T	c.(256-258)cCc>cTc	p.P86L	ZNF419_ENST00000520540.1_Missense_Mutation_p.P73L|ZNF419_ENST00000221735.7_Missense_Mutation_p.P85L|ZNF419_ENST00000518999.1_Missense_Mutation_p.P86L|ZNF419_ENST00000442920.2_Missense_Mutation_p.P72L|ZNF419_ENST00000426954.2_Missense_Mutation_p.P73L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.P73L|ZNF419_ENST00000347466.6_Intron	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGGGAGGAGCCCTTCATGCCT	0.507000													14	50					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841908	230841908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:230841908C>T	ENST00000366667.4	-	3	1109	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	299					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACCCAGAACTCCTGGGGCTCG	0.587000													14	38					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233206	21233206	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:21233206C>T	ENST00000233242.1	-	26	6661	c.6534G>A	c.(6532-6534)atG>atA	p.M2178I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2178	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAAATTGTATCATATATGTCT	0.234000													76	272					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	601609	601609	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:601609C>T	ENST00000264555.5	+	10	1188	c.1060C>T	c.(1060-1062)Ccg>Tcg	p.P354S	PHRF1_ENST00000533464.1_Missense_Mutation_p.P350S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P354S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P353S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	354	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AAAGAAAACCCCGTCCGGACC	0.507000													13	44					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563628	24563628	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr6:24563628C>T	ENST00000535378.1	-	17	3165	c.2523G>A	c.(2521-2523)tcG>tcA	p.S841S	KIAA0319_ENST00000430948.2_Silent_p.S805S|KIAA0319_ENST00000537886.1_Silent_p.S850S|KIAA0319_ENST00000543707.1_Silent_p.S850S|KIAA0319_ENST00000378214.3_Silent_p.S850S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	850					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTTAATGTCCGAGTCCAGCA	0.587000													18	36					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96136854	96136854	+	RNA	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr14:96136854C>T	ENST00000467865.1	+	0	1964				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CGAGTCACGTCCTTTTTTCCT	0.493000			T	TRA@	T-ALL								3	22					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322780	55322780	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:55322780C>T	ENST00000314644.2	+	1	998	c.998C>T	c.(997-999)cCc>cTc	p.P333L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATCTTAAATCCCTTGCTCAAT	0.373000										HNSCC(20;0.049)			19	76					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790276	4790276	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:4790276G>A	ENST00000380383.1	-	1	892	c.893C>T	c.(892-894)cCc>cTc	p.P298L	OR51F1_ENST00000343430.3_Missense_Mutation_p.P291L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	291						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTCGATGATGGGGTTGAGCAC	0.458000													7	51					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38786957	38786957	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:38786957C>T	ENST00000310803.5	-	16	2062	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	RASGRP1_ENST00000450598.2_Missense_Mutation_p.G594R|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Missense_Mutation_p.G581R|RASGRP1_ENST00000561180.1_Missense_Mutation_p.G680R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	629					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GTAAAAGGTCCTTCCTCAGGT	0.463000													9	17					0	0	1	0	0
PPIF	10105	broad.mit.edu	37	10	81109500	81109500	+	Silent	SNP	C	C	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr10:81109500C>T	ENST00000225174.3	+	3	377	c.306C>T	c.(304-306)ttC>ttT	p.F102F	PPIF_ENST00000492149.1_3'UTR|PPIF_ENST00000394579.3_Silent_p.F102F	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	102	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	TCCCTTCCTTCATGTGCCAGG	0.542000													6	28					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081560	53081560	+	Silent	SNP	G	G	A			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:53081560G>A	ENST00000305901.5	-	1	649	c.522C>T	c.(520-522)ggC>ggT	p.G174G	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	174					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TCTGGCCCATGCCGGCCACGT	0.667000													21	77					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	874816	874817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr1:874816_874817insT	ENST00000342066.3	+	7	765_766	c.682_683insT	c.(682-684)cccfs	p.P228fs		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	228						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTGGCATGATCCCCCTCATCAC	0.644													7	21	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													4	2	---	---	---	---					
CENPE	1062	broad.mit.edu	37	4	104061189	104061189	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr4:104061189delT	ENST00000265148.3	-	38	6050	c.5961delA	c.(5959-5961)gafs	p.E1987fs	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1987					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TATTGACATCTTCTTTCACTC	0.328													11	28	---	---	---	---					
ZNF777	27153	broad.mit.edu	37	7	149152619	149152620	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr7:149152619_149152620delAG	ENST00000247930.4	-	2	817_818	c.494_495delCT	c.(493-495)cfs	p.P165fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGATCTGGAAAGGGGTGTCCTT	0.604													47	140	---	---	---	---					
UBXN1	51035	broad.mit.edu	37	11	62445468	62445468	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr11:62445468delA	ENST00000294119.2	-	5	544	c.413delT	c.(412-414)cafs	p.L138fs	UBXN1_ENST00000301935.5_Frame_Shift_Del_p.L138fs|UBXN1_ENST00000529640.1_Frame_Shift_Del_p.L138fs|UBXN1_ENST00000524762.1_5'UTR	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	138	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						ATCTTCCTGTAGCCGCTGTCG	0.597													16	38	---	---	---	---					
DNM1P46	196968	broad.mit.edu	37	15	100340123	100340125	+	RNA	DEL	AGA	AGA	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr15:100340123_100340125delAGA	ENST00000341853.1	-	0	801_803					NR_003260.1																						AGCAGCTCCGAGAAGATGAACTC	0.611													7	25	---	---	---	---					
NCAM2	4685	broad.mit.edu	37	21	22910226	22910226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chr21:22910226delT	ENST00000400546.1	+	18	2711	c.2462delT	c.(2461-2463)atfs	p.I821fs	NCAM2_ENST00000284894.7_Frame_Shift_Del_p.I679fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	821					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACTATAGAAATTAAAGTTTCT	0.323													19	64	---	---	---	---					
SMS	6611	broad.mit.edu	37	X	21995186	21995186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A194-01A-11D-A197-08	TCGA-ER-A194-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01509a9b-70ab-41bc-8666-f49c04c7cdcd	930bbb8a-4bca-4a83-9d9d-6d47e585d500	g.chrX:21995186delC	ENST00000404933.2	+	5	589	c.337delC	c.(337-339)ccfs	p.P113fs	SMS_ENST00000379404.1_Frame_Shift_Del_p.P60fs|SMS_ENST00000415881.2_Frame_Shift_Del_p.P17fs|SMS_ENST00000478094.1_3'UTR	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	113					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CAGATTACCACCCATAGTGCG	0.473													10	18	---	---	---	---					
