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
PPIAL4G	644591	broad.mit.edu	37	1	143767794	143767794	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:143767794G>A	ENST00000419275.1	-	1	87	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	19	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.R19C(1)|p.R19S(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ATGGAGATGCGGCCCAAGGGC	0.498000													105	120					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375435	118375435	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:118375435C>T	ENST00000534358.1	+	27	8851	c.8828C>T	c.(8827-8829)aCt>aTt	p.T2943I	KMT2A_ENST00000389506.5_Missense_Mutation_p.T2940I|KMT2A_ENST00000354520.4_Missense_Mutation_p.T2902I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CGGAGTCCCACTGTCCCCAGC	0.493000													38	11					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111145957	111145957	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:111145957G>A	ENST00000485317.1	-	3	2121	c.1448C>T	c.(1447-1449)aCc>aTc	p.T483I	KCNA2_ENST00000316361.4_Missense_Mutation_p.T483I|KCNA2_ENST00000440270.1_Missense_Mutation_p.T483I|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	483						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GTTAGCCAAGGTACAGTTGGC	0.383000													54	11					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58274928	58274928	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:58274928G>A	ENST00000360374.2	-	1	650	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATGCATATGAAGAAGTAAG	0.473000													17	22					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208996	1208996	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:1208996G>A	ENST00000304460.10	+	2	394	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	113					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCTGAAGGGCCTAGGTGAG	0.716000													20	16					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096931	97096931	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:97096931G>A	ENST00000371247.2	-	30	3175	c.2986C>T	c.(2986-2988)Cca>Tca	p.P996S	SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P996S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P950S|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	996					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CGCCTGCCTGGGACCCCCACA	0.637000													16	7					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102564738	102564738	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:102564738G>A	ENST00000260229.4	-	8	1183	c.1092C>T	c.(1090-1092)atC>atT	p.I364I		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	364	Hemopexin-like 2.				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)		CTAATGTATGGATGGATTTGG	0.408000													34	34					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770425	119770425	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:119770425G>A	ENST00000313400.4	-	7	1637	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F	ASTN2_ENST00000373996.3_Missense_Mutation_p.L513F|ASTN2_ENST00000361209.2_Missense_Mutation_p.L462F|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	513	EGF-like 1.					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						TGTCCACAGAGGTCCCTCACC	0.587000													20	8					0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34308409	34308409	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:34308409G>A	ENST00000293275.3	-	1	123	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	16					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGAAGTAATGATAAGGATGA	0.557000													11	12					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091512	74091512	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:74091512G>A	ENST00000443185.2	-	4	2875	c.2558C>T	c.(2557-2559)cCc>cTc	p.P853L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P853L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CACTCCCAGGGGAGAAGAGCC	0.627000													60	66					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028325	170028325	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:170028325G>A	ENST00000284637.9	-	11	2512	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	724						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGAGGCGCCAGAAAGCAACTT	0.502000													20	17					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245168	59245168	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:59245168G>A	ENST00000530162.1	+	1	323	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTCTGAAAGAAAGACCATC	0.433000													42	46					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894863	139894863	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:139894863T>G	ENST00000458420.3	+	2	370	c.180T>G	c.(178-180)atT>atG	p.I60M		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	60	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACACAGTCATTTTGGACCCAC	0.453000										HNSCC(16;0.037)			16	24					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202533586	202533586	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:202533586C>T	ENST00000406302.3	+	21	2821	c.2668C>T	c.(2668-2670)Ctg>Ttg	p.L890L	PPP1R12B_ENST00000391959.3_Silent_p.L116L|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_Silent_p.L116L|PPP1R12B_ENST00000336894.4_Silent_p.L890L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	890					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGAGAGTGCTCTGACTGAAAA	0.473000													16	48					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614213	36614213	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:36614213C>T	ENST00000311485.3	-	2	1667	c.1506G>A	c.(1504-1506)atG>atA	p.M502I		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	502					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGAGGGATTTCATTGGAGGCT	0.408000									Familial Hemophagocytic Lymphohistiocytosis				32	34					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49212700	49212700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:49212700G>A	ENST00000327979.2	-	15	2290	c.1879C>T	c.(1879-1881)Caa>Taa	p.Q627*	FAM65C_ENST00000535356.1_Nonsense_Mutation_p.Q631*|FAM65C_ENST00000045083.2_Nonsense_Mutation_p.Q627*			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	627										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGCAGACTTGGAGGTGTACC	0.602000													27	32					0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79496291	79496291	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:79496291G>A	ENST00000417245.2	+	1	870	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	FSCN2_ENST00000334850.7_Missense_Mutation_p.R245Q	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	245					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGAAACACGCGACCTGGCAAG	0.647000													4	14					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115336332	115336332	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:115336332G>A	ENST00000357872.4	+	9	1748	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	AQPEP_ENST00000395528.2_Missense_Mutation_p.D59N	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		542					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGAGCAAGATGATCTATGGAG	0.353000													14	23					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480350	73480350	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:73480350G>A	ENST00000523207.1	+	2	969	c.381G>A	c.(379-381)ggG>ggA	p.G127G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	127					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATTACTGGGGGATTGATGAGA	0.448000													42	55					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891326	29891326	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:29891326C>A	ENST00000308713.5	-	9	1959	c.1432G>T	c.(1432-1434)Gac>Tac	p.D478Y	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D364Y|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D434Y|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D408Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	478	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACTCAGGGTCCGTGGTAGTG	0.582000													11	62					4.68919e-08	4.72133e-08	1	1	0
CREB5	9586	broad.mit.edu	37	7	28547243	28547243	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:28547243C>T	ENST00000357727.2	+	4	569	c.179C>T	c.(178-180)cCg>cTg	p.P60L	CREB5_ENST00000396299.2_Missense_Mutation_p.P27L|CREB5_ENST00000396300.2_Missense_Mutation_p.P53L|CREB5_ENST00000409603.1_Missense_Mutation_p.P27L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	60					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P60Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GATCAAACTCCGACCCCAACG	0.522000													269	183					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357297	149357297	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:149357297C>T	ENST00000286298.4	+	2	350	c.82C>T	c.(82-84)Cat>Tat	p.H28Y		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	28						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATCTGGGATCCATCTGGAACT	0.408000													19	29					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907666	65907666	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:65907666T>G	ENST00000321892.4	+	13	4105	c.4044T>G	c.(4042-4044)agT>agG	p.S1348R	BPTF_ENST00000424123.3_Missense_Mutation_p.S1209R|BPTF_ENST00000306378.6_Missense_Mutation_p.S1222R|BPTF_ENST00000335221.5_Missense_Mutation_p.S1348R			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1348					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACTAGCCAGTGCAGATGATA	0.388000													15	21					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40104609	40104609	+	Missense_Mutation	SNP	C	C	T	rs142570098	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:40104609C>T	ENST00000261435.6	+	4	1560	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	382						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						CTTTGTAGCTCCTGTTGTAAC	0.473000													34	57					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81972454	81972454	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:81972454C>T	ENST00000359376.3	+	29	3461	c.3247C>T	c.(3247-3249)Ccc>Tcc	p.P1083S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1083	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TATTGCCTGTCCCTTTGTAGA	0.527000													13	26					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38568323	38568323	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:38568323C>T	ENST00000399017.2	+	42	8312	c.5565C>T	c.(5563-5565)ttC>ttT	p.F1855F	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.F1855F|TTC3_ENST00000354749.2_Silent_p.F1855F	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1855					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)				CAGTGGTATTCCCATGTTACA	0.433000													16	21					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101564795	101564795	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:101564795C>T	ENST00000335681.5	+	6	747	c.462C>T	c.(460-462)tcC>tcT	p.S154S	NPAS2_ENST00000542504.1_Silent_p.S219S|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	154					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACGGATTCCCCCTCCCCAG	0.338000													10	30					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585011	30585011	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:30585011C>T	ENST00000217299.3	+	3	1665	c.1491C>T	c.(1489-1491)acC>acT	p.T497T		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	497						integral to membrane		p.T497T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACCCCCACCCCACCTGTCT	0.682000													17	28					0	0	1	0	0
LOC101928063	101928063	broad.mit.edu	37	19	44503324	44503324	+	RNA	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:44503324T>A	ENST00000586860.1	-	0	273				RP11-15A1.7_ENST00000589021.1_RNA																							AGCAGTTCCTTTTGAGTTTGT	0.348000													11	23					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826205	43826205	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:43826205G>A	ENST00000389420.3	-	21	2997	c.2998C>T	c.(2998-3000)Cgt>Tgt	p.R1000C	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R154C|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1000C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1000	TSP type-1 4.		R -> H (in dbSNP:rs7297737).			proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCAGCAAGACGATGGCCAAAG	0.433000													21	35					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849651	189849651	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:189849651G>A	ENST00000304636.3	+	2	415	c.245G>A	c.(244-246)gGa>gAa	p.G82E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G82E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	82	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATTCCATTTGGAGAATGTTGT	0.408000													22	25					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:96706525C>T	ENST00000389672.5	+	3	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_ENST00000542517.1_Missense_Mutation_p.R174C|EPHA6_ENST00000470610.2_Missense_Mutation_p.R268C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443000													96	137					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181724526	181724526	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:181724526G>A	ENST00000526775.1	+	27	4090	c.3925G>A	c.(3925-3927)Gag>Aag	p.E1309K	CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1328K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E935K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1328K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1279K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1260K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1309K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1328					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1328K(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACAGAGAAGGAGTGCATGTA	0.483000													51	118					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794139	13794139	+	Missense_Mutation	SNP	C	C	T	rs140968268		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13794139C>T	ENST00000265104.4	-	48	8020	c.7916G>A	c.(7915-7917)cGa>cAa	p.R2639Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2639	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2639Q(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)					TGTACCCATTCGTTTATCCAC	0.368000									Kartagener syndrome				20	25					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57921367	57921367	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:57921367C>T	ENST00000355673.3	+	8	2516	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	MBD6_ENST00000431731.2_Silent_p.S720S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	720	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CGGGGGCCTCCTCTCTGGGCA	0.597000													47	75					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47847572	47847572	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:47847572C>T	ENST00000359568.5	+	34	7464	c.7357C>T	c.(7357-7359)Ctt>Ttt	p.L2453F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2453					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGAGGGGACCTTCTGCAGGT	0.572000													30	41					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72198810	72198810	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:72198810C>T	ENST00000537465.1	-	3	176	c.18G>A	c.(16-18)ggG>ggA	p.G6G	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Silent_p.G6G|PMFBP1_ENST00000543746.1_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	6										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGTCTCTCTCCCCCGCCTAGG	0.443000													14	20					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16590074	16590074	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:16590074C>T	ENST00000269881.3	-	9	1085	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	341	C-domain.|Glu/Lys-rich.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CATCCATCTCCCTTTCTGGAC	0.532000													30	83					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454684	39454684	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:39454684G>A	ENST00000280481.7	+	24	9486	c.9270G>A	c.(9268-9270)ggG>ggA	p.G3090G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3090					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)		TCCCCCATGGGAGAGCACCTC	0.597000													18	46					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150245	34150245	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:34150245C>T	ENST00000346193.3	-	1	202	c.151G>A	c.(151-153)Gtg>Atg	p.V51M		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	51										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCTCCTTCACAAATACCCAG	0.547000													34	13					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78212392	78212392	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:78212392C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGCCCTCTCTCCTTTTATGTG	0.512000													17	98					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119469224	119469224	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:119469224G>A	ENST00000369429.3	-	3	439	c.430C>T	c.(430-432)Cct>Tct	p.P144S	TBX15_ENST00000207157.3_Missense_Mutation_p.P38S			Q96SF7	TBX15_HUMAN	T-box 15	144						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTCATGGCAGGAAACATCCTC	0.403000													4	15					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165643	151165643	+	Missense_Mutation	SNP	C	C	T	rs79636265	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:151165643C>T	ENST00000282466.3	-	4	2125	c.2126G>A	c.(2125-2127)gGa>gAa	p.G709E		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	709					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGTGTTTTCCAACCTCAGC	0.488000													20	26					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38248494	38248494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:38248494C>T	ENST00000379705.3	-	5	2102	c.1245G>A	c.(1243-1245)tgG>tgA	p.W415*	TRPC4_ENST00000379681.3_Nonsense_Mutation_p.W415*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.W242*|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.W415*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.W242*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.W415*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.W415*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	415					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TAATTTCTCCCCATATGAAGC	0.333000													22	10					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063707	7063707	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:7063707C>T	ENST00000299481.4	+	4	796	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	150					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAAGATTTCCATCATGGAA	0.418000													27	30					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17735637	17735637	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:17735637C>T	ENST00000428389.2	-	36	4461		c.e36+1		UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site|UNC13A_ENST00000519716.2_Splice_Site			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCAGGTCTCACCGTCTGGTCA	0.582000													39	5					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864541	153864541	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:153864541G>A	ENST00000511601.1	+	2	520	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R111Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	111	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)					GAGCAAGTTCGAGGCAAAACC	0.493000													62	98					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276351	153276351	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:153276351G>A	ENST00000290722.1	-	4	563	c.511C>T	c.(511-513)Cca>Tca	p.P171S		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	171					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCATCACTGGATGTTGAGGG	0.532000													82	59					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91744483	91744483	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:91744483G>A	ENST00000389857.6	-	29	4927	c.4841C>T	c.(4840-4842)gCc>gTc	p.A1614V	CCDC88C_ENST00000331194.7_Missense_Mutation_p.A138V	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1614					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGGCAAAGTGGCCAGGTCCCT	0.682000													10	12					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369005	22369005	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:22369005C>T	ENST00000332663.2	+	1	528	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGCTGTATCCTGGTGGCTCT	0.502000													54	192					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152646328	152646328	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:152646328C>T	ENST00000367255.5	-	81	16149	c.15548G>A	c.(15547-15549)aGg>aAg	p.R5183K	SYNE1_ENST00000448038.1_Missense_Mutation_p.R5112K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5183K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5112K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4876K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5183					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)		GGTCATTGACCTGCTCAGGGT	0.532000										HNSCC(10;0.0054)			54	96					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741448	48741448	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:48741448C>T	ENST00000285238.8	+	10	1394	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	ABCC3_ENST00000427699.1_Silent_p.I438I	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	438	ABC transmembrane type-1 1.				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)	TGCAGATCATCCTGGCGATCT	0.552000													44	37					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516158	78516158	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:78516158C>T	ENST00000397909.2	+	16	4361	c.4188C>T	c.(4186-4188)gtC>gtT	p.V1396V	NAV3_ENST00000536525.2_Silent_p.V1396V|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.V1396V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1396	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCACGAGGTCCAGAGCCTGC	0.547000										HNSCC(70;0.22)			23	39					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20527471	20527471	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:20527471G>A	ENST00000202677.6	-	24	3304	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1054					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCGTATTTAAGATATCCTAAA	0.428000													12	14					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791245	91791245	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:91791245C>T	ENST00000389857.6	-	12	1306	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	407					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTCAATTCGTTTCTTATC	0.552000													13	23					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33693363	33693363	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:33693363T>G	ENST00000451316.1	-	6	1155	c.620A>C	c.(619-621)cAg>cCg	p.Q207P	IP6K3_ENST00000293756.4_Missense_Mutation_p.Q207P	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	207					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						ATGCGTGTACTGTGACACTAC	0.547000													21	46					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156694030	156694030	+	Silent	SNP	G	G	A	rs141168468	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:156694030G>A	ENST00000313146.6	-	2	1640	c.858C>T	c.(856-858)atC>atT	p.I286I	ISG20L2_ENST00000368219.1_Silent_p.I286I|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	286	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGGGGGGGGATATGGGAGG	0.552000													26	73					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223213	140223213	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140223213C>T	ENST00000531613.1	+	1	2307	c.2307C>T	c.(2305-2307)ctC>ctT	p.L769L	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L769L	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)			AGACGGACCTCATGGCCTTCA	0.552000													19	23					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584130	7584130	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:7584130G>A	ENST00000379802.3	+	24	6976	c.6635G>A	c.(6634-6636)gGa>gAa	p.G2212E	DSP_ENST00000418664.2_Missense_Mutation_p.G1613E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2212	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCTTCCAAGGAATCAGACAA	0.463000													22	61					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648726	130648726	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:130648726C>T	ENST00000539839.1	+	1	1723	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	FZD10_ENST00000229030.4_Silent_p.I413I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGTCCTTCATCCTCTCGGGCT	0.627000													21	34					0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207135711	207135711	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:207135711G>A	ENST00000324852.4	-	5	973	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	FCAMR_ENST00000450945.2_Missense_Mutation_p.R167C|FCAMR_ENST00000400962.3_Missense_Mutation_p.R167C	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	122	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						ACACGGTCACGATAGCGATGG	0.567000													29	70					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789402	164789402	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:164789402G>A	ENST00000420696.2	+	7	1279	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	PBX1_ENST00000560641.1_Missense_Mutation_p.G259E|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Missense_Mutation_p.G364E|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.G259E	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	364					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCCCAGGTTGGAGCCAACGTG	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								43	41					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725590	28725590	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:28725590G>A	ENST00000257197.3	-	7	1184	c.923C>T	c.(922-924)cCt>cTt	p.P308L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P308L	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	308	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATCCAGAAAAGGTGTAGTTGT	0.378000													24	47					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442148	39442148	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:39442148C>T	ENST00000265707.5	+	1	52	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	ADAM18_ENST00000520772.1_Missense_Mutation_p.L3F|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.L3F	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	3					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)			AGCCATGTTCCTTCTCCTCGC	0.627000													24	30					0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44619144	44619144	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:44619144G>A	ENST00000457408.2	-	5	670	c.618C>T	c.(616-618)ctC>ctT	p.L206L	TMED4_ENST00000289577.5_Silent_p.L157L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	206					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGTGAGGATGAGGATGACAG	0.532000													29	40					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25421987	25421987	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:25421987G>A	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							TTGGGTCGATGATGAGAACTT	0.532000													61	191					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679714	104679714	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:104679714G>A	ENST00000369878.3	+	1	1601	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	CNNM2_ENST00000457502.2_Missense_Mutation_p.D251N|CNNM2_ENST00000433628.2_Missense_Mutation_p.D493N|CNNM2_ENST00000369875.3_Missense_Mutation_p.D493N	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	493	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAATATCGTGGACCTGCTGTT	0.512000													40	12					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114320371	114320371	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:114320371G>A	ENST00000261441.5	-	3	1500	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	479						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTCCAACGAGACTTATCT	0.403000													41	5					0	0	1	0	0
EID3	493861	broad.mit.edu	37	12	104698385	104698385	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:104698385T>C	ENST00000527879.1	+	1	869	c.673T>C	c.(673-675)Ttg>Ctg	p.L225L	TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGAAAGGATTTTGGGATTGTT	0.398000													11	20					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923089	18923089	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:18923089C>T	ENST00000317977.6	+	13	1955	c.1384C>T	c.(1384-1386)Ctg>Ttg	p.L462L	SLC5A10_ENST00000417251.2_Silent_p.L456L|SLC5A10_ENST00000395642.1_Silent_p.L462L|SLC5A10_ENST00000395645.3_Silent_p.L492L|SLC5A10_ENST00000395643.2_Silent_p.L465L|SLC5A10_ENST00000395647.2_Silent_p.L508L			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	492					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCTGGAATTCCTGAACCCAGC	0.682000													6	9					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333188	333188	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:333188G>A	ENST00000343164.4	-	11	1333	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.S335S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	427					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCACAAGGAAGGAGACGACAG	0.587000													10	24					0	0	1	0	0
MROH1	727957	broad.mit.edu	37	8	145278091	145278091	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:145278091C>T	ENST00000528919.1	+	13	1417	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	MROH1_ENST00000398656.4_Silent_p.I432I|MROH1_ENST00000326134.5_Silent_p.I432I|MROH1_ENST00000534366.1_Silent_p.I432I	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		AGGCGATGATCGAGTACATCG	0.652000													7	7					0	0	1	0	0
LOC286059	286059	broad.mit.edu	37	8	22938818	22938818	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:22938818C>T	ENST00000501897.1	+	0	322					NR_038873.1																						GGAAATAATTCAGGACCAACT	0.473000													6	3					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003118	120003118	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:120003118G>A	ENST00000354888.5	+	3	550	c.46G>A	c.(46-48)Gac>Aac	p.D16N	STEAP3_ENST00000393107.2_Missense_Mutation_p.D16N|STEAP3_ENST00000393106.2_Missense_Mutation_p.D16N|STEAP3_ENST00000425223.2_Missense_Mutation_p.D16N|STEAP3_ENST00000393110.2_Missense_Mutation_p.D26N|STEAP3_ENST00000450943.2_Missense_Mutation_p.D16N|STEAP3_ENST00000409811.1_Missense_Mutation_p.D16N|STEAP3_ENST00000393108.2_Missense_Mutation_p.D16N|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	16					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCACCTGGTGGACAGCGATAG	0.617000													16	31					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31462650	31462650	+	Missense_Mutation	SNP	G	G	A	rs143925896	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:31462650G>A	ENST00000357033.4	-	60	9238	c.9032C>T	c.(9031-9033)cCg>cTg	p.P3011L	DMD_ENST00000541735.1_Missense_Mutation_p.P551L|DMD_ENST00000378707.3_Missense_Mutation_p.P551L|DMD_ENST00000343523.2_Missense_Mutation_p.P551L|DMD_ENST00000378677.2_Missense_Mutation_p.P3007L|DMD_ENST00000474231.1_Missense_Mutation_p.P551L|DMD_ENST00000359836.1_Missense_Mutation_p.P551L	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	3011					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)				GAGGTTATACGGTGAGAGCTG	0.463000													25	14					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110485297	110485297	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:110485297C>T	ENST00000260283.4	-	7	902	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ARHGAP20_ENST00000528829.1_Silent_p.G170G|ARHGAP20_ENST00000524756.1_Silent_p.G183G|ARHGAP20_ENST00000527598.1_Silent_p.G170G|ARHGAP20_ENST00000533353.1_Silent_p.G180G|ARHGAP20_ENST00000357139.3_Silent_p.G180G	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	206	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGGCACAATTCCCAATGTCCT	0.428000													18	7					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130022	35130022	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:35130022C>T	ENST00000436258.1	-	0	3347																											GGCAGATTTTCGACTATATGT	0.274000													23	47					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18278362	18278362	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:18278362G>A	ENST00000251900.4	-	9	1157	c.998C>T	c.(997-999)tCg>tTg	p.S333L	SCML2_ENST00000398048.3_Missense_Mutation_p.S69L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	333					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TCTGGTCAGCGATTTTAGAGA	0.338000													19	6					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037295	75037295	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:75037295C>T	ENST00000326665.5	-	14	4317	c.4099G>A	c.(4099-4101)Gag>Aag	p.E1367K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1367	Glu-rich.									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						GTTTTCTCCTCGGCTGTCTCC	0.517000													70	18					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730793	5730793	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5730793G>A	ENST00000379965.3	+	8	1689	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	471	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AAGTTCTCTGGATGTCGCTTT	0.488000													70	89					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328422	80328422	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:80328422C>T	ENST00000358842.3	-	1	950	c.933G>A	c.(931-933)gaG>gaA	p.E311E		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	311					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATGCTGGCTTCTCTCTGCCTA	0.433000													35	42					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216833	3216833	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:3216833C>T	ENST00000520002.1	-	22	3703	c.3148G>A	c.(3148-3150)Gga>Aga	p.G1050R	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1050R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1050R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1050R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1049R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1049R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1049R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1050	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAGGGACTCCAGGATCATCA	0.448000													16	21					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216581	2216581	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:2216581C>A	ENST00000398665.3	+	20	2261	c.2225C>A	c.(2224-2226)cCc>cAc	p.P742H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	742						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCTCACCCCTGGACCAG	0.672000													29	66					4.87955e-14	4.93668e-14	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107431128	107431128	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:107431128C>T	ENST00000334504.7	-	22	1950	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	COL4A6_ENST00000538570.1_Missense_Mutation_p.E573K|COL4A6_ENST00000372216.4_Missense_Mutation_p.E574K|COL4A6_ENST00000394872.2_Missense_Mutation_p.E574K|COL4A6_ENST00000545689.1_Missense_Mutation_p.E573K	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	574	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTGCCTGGTTCTCCTATTACA	0.522000									Alport syndrome with Diffuse Leiomyomatosis				56	19					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20077463	20077463	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:20077463C>T	ENST00000396085.1	+	19	5152	c.4791C>T	c.(4789-4791)acC>acT	p.T1597T	NAV2_ENST00000533917.1_Silent_p.T661T|NAV2_ENST00000540292.1_Silent_p.T1551T|NAV2_ENST00000349880.4_Silent_p.T1597T|NAV2_ENST00000311043.8_Silent_p.T661T|NAV2_ENST00000360655.4_Silent_p.T1533T|NAV2_ENST00000527559.2_Silent_p.T1549T|NAV2_ENST00000396087.3_Silent_p.T1620T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1620	Ser-rich.					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						AGAGCAGAACCATGAGCCGTT	0.507000													19	25					0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418634	43418634	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43418634C>T	ENST00000357338.3	-	6	1495	c.795G>A	c.(793-795)ggG>ggA	p.G265G	DLK2_ENST00000414245.1_Silent_p.G259G|DLK2_ENST00000372485.1_Silent_p.G259G|DLK2_ENST00000372488.3_Silent_p.G265G	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	265						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGAGGTGGGCCCTAGAGGGG	0.642000													39	76					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006998	32006998	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32006998G>A	ENST00000418967.2	+	3	578	c.420G>A	c.(418-420)gtG>gtA	p.V140V	CYP21A2_ENST00000435122.2_Silent_p.V110V	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	139					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AGCCAGTGGTGGAGCAGCTGA	0.647000													61	144					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325730	31325730	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:31325730G>A	ENST00000269197.5	+	12	5918	c.5918G>A	c.(5917-5919)gGa>gAa	p.G1973E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1973					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGGGATTGGGAGAGGTTAGT	0.517000													43	62					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20215927	20215927	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:20215927C>T	ENST00000412997.1	-	6	1447	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.V366M|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.V366M|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.V366M	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	366					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CAGAGGCTCACTTCAGACTCG	0.413000													28	45					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8770910	8770910	+	Splice_Site	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:8770910T>A	ENST00000378641.3	+	31	3898		c.e31+2		PLCB1_ENST00000378637.2_Splice_Site|PLCB1_ENST00000338037.6_Splice_Site	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)						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						AAGCCCAAGGTAAACGGAACT	0.358000													5	0					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39908455	39908455	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:39908455C>A	ENST00000564288.1	+	78	19951	c.19174C>A	c.(19174-19176)Ctt>Att	p.L6392I	MACF1_ENST00000372915.3_Missense_Mutation_p.L6291I|MACF1_ENST00000317713.7_Missense_Mutation_p.L4333I|MACF1_ENST00000361689.2_Missense_Mutation_p.L4333I|MACF1_ENST00000567887.1_Missense_Mutation_p.L6429I|MACF1_ENST00000539005.1_Missense_Mutation_p.L4203I|MACF1_ENST00000545844.1_Missense_Mutation_p.L4333I|MACF1_ENST00000289893.4_Missense_Mutation_p.L4835I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6401					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAATGAGCTTCTTGAATCCAG	0.438000													11	17					4.3838e-07	4.40479e-07	1	1	0
NPTN	27020	broad.mit.edu	37	15	73862573	73862573	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:73862573C>A	ENST00000351217.6	-	5	1602	c.684G>T	c.(682-684)ttG>ttT	p.L228F	NPTN_ENST00000345330.4_Missense_Mutation_p.L344F|NPTN_ENST00000545878.1_Missense_Mutation_p.L344F|NPTN_ENST00000562924.1_Missense_Mutation_p.L228F|NPTN_ENST00000563691.1_Missense_Mutation_p.L344F|NPTN_ENST00000287226.8_Missense_Mutation_p.W328L|NPTN_ENST00000542234.1_Missense_Mutation_p.L139F	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	344	Ig-like 2.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCAGAATTCCCAAGAAAGGCC	0.522000													29	65					1.08312e-15	1.09656e-15	1	1	0
NF1	4763	broad.mit.edu	37	17	29562741	29562741	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:29562741T>A	ENST00000358273.4	+	28	4204	c.3821T>A	c.(3820-3822)cTc>cAc	p.L1274H	NF1_ENST00000356175.3_Missense_Mutation_p.L1274H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1274	Ras-GAP.				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)		ATGCAGACTCTCTTCCGAGGC	0.408000			"""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)			65	60					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169939973	169939973	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:169939973C>T	ENST00000327239.4	+	6	1952	c.448C>T	c.(448-450)Cct>Tct	p.P150S	DHRS9_ENST00000602501.1_Missense_Mutation_p.P150S|DHRS9_ENST00000432060.2_Missense_Mutation_p.P210S|DHRS9_ENST00000436483.2_Missense_Mutation_p.P150S|DHRS9_ENST00000428522.1_Missense_Mutation_p.P150S|DHRS9_ENST00000357546.2_Missense_Mutation_p.P150S|DHRS9_ENST00000412271.1_Missense_Mutation_p.P150S|DHRS9_ENST00000421653.1_Missense_Mutation_p.P3S	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	150					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAATATGCTTCCTTTGGTCAA	0.483000													22	37					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17837396	17837396	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:17837396C>T	ENST00000324096.4	+	5	1354	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	MAP1S_ENST00000544059.2_Silent_p.P375P|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	401	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCACCCGCCCTCCGCCGGCG	0.726000													3	10					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21562382	21562382	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:21562382G>A	ENST00000415912.2	-	13	1604	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	ECE1_ENST00000374893.6_Silent_p.F509F|ECE1_ENST00000436918.2_Silent_p.F509F|ECE1_ENST00000264205.6_Silent_p.F506F|ECE1_ENST00000357071.4_Silent_p.F497F	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	509					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GATCCATGATGAAGTTGGGGT	0.552000													98	22					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249819	177249819	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:177249819C>T	ENST00000361539.4	+	8	1819	c.1507C>T	c.(1507-1509)Ctt>Ttt	p.L503F	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		503						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						GGAAAACTTTCTTGGGCTGGA	0.572000													29	24					0	0	1	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70855188	70855188	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:70855188G>A	ENST00000256366.4	-	2	281	c.201_splice	c.e2+1	p.S67_splice	SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CATTCTCACCGAAAGGATCTT	0.542000													20	22					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826469	46826469	+	Silent	SNP	G	G	A	rs151037028		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:46826469G>A	ENST00000283296.7	-	17	3459	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	GPR116_ENST00000545669.1_Silent_p.I486I|GPR116_ENST00000265417.7_Silent_p.I1057I|GPR116_ENST00000456426.2_Silent_p.I915I|GPR116_ENST00000362015.4_Silent_p.I1057I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1057					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1057I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGAGGCAGCGATATTCACTA	0.537000													18	35					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443358	46443358	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:46443358A>G	ENST00000263257.5	-	4	1436	c.1242T>C	c.(1240-1242)ccT>ccC	p.P414P		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	414	KH 3.					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)		CCAGGTTCTCAGGCACCGCAA	0.682000													4	124					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161021955	161021955	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161021955C>T	ENST00000447678.1	-	20	3241	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	LPA_ENST00000316300.5_Missense_Mutation_p.E1041K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3549	Kringle 9.				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)	TTACCTTGTTCAAAAAAAGCC	0.507000													15	24					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	552635	552635	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:552635G>A	ENST00000270115.7	+	13	1748	c.1248G>A	c.(1246-1248)agG>agA	p.R416R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	416										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACGGAGGGTCCCTGAAG	0.687000													10	9					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45452298	45452298	+	Silent	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:45452298T>A	ENST00000331493.2	+	12	1749	c.1338T>A	c.(1336-1338)gtT>gtA	p.V446V	EFCAB13_ENST00000517484.1_Silent_p.V350V	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		AAAAACAGGTTTCGTCTACGG	0.368000													6	13					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48627094	48627094	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:48627094G>A	ENST00000328333.8	-	16	2215	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	COL7A1_ENST00000454817.1_Missense_Mutation_p.T703I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	703	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGTAATGGTGACAGATGA	0.632000													33	55					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46963859	46963859	+	Silent	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:46963859C>A	ENST00000374323.3	-	6	1850	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	SYT15_ENST00000503753.1_Silent_p.V368V|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Silent_p.V368V|SYT15_ENST00000374321.4_Silent_p.V368V			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	368						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCATGTTCTGCACCACAGTCA	0.607000													14	27					0.000308642	0.000309485	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31770312	31770312	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:31770312G>A	ENST00000240587.4	-	2	714	c.387C>T	c.(385-387)tcC>tcT	p.S129S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	129					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)					TGGACCAGTAGGAGTTGGAGA	0.582000													14	57					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084304	26084304	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:26084304G>A	ENST00000478176.1	-	0	153					NR_003678.1													p.P38T(1)									CCAAATGCTGGATCCTTTAGA	0.393000													6	32					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247894	5247894	+	Silent	SNP	C	C	T	rs35452098		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5247894C>T	ENST00000335295.3	-	2	403	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	76			L -> P (in Atlanta; unstable).|L -> R (in Pasadena; O(2) affinity up; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCAGGTGAGCCAGGCCATCAC	0.542000									Sickle Cell Trait				42	39					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161071470	161071470	+	Nonsense_Mutation	SNP	G	G	A	rs121912503		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161071470G>A	ENST00000447678.1	-	3	229	c.109C>T	c.(109-111)Cga>Tga	p.R37*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R37*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2545	Kringle 1.				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)	TACGTGCCTCGATAACTCTGT	0.453000													63	84					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24278290	24278290	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:24278290G>A	ENST00000378454.3	-	7	1210	c.909C>T	c.(907-909)acC>acT	p.T303T		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	303					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TATTTGGAATGGTTTCTTGTG	0.333000													4	26					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045473	53045473	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:53045473C>T	ENST00000309680.3	-	1	475	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	152	Head.				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)		ACAGAGACTTCGTGGATGCCA	0.572000													26	38					0	0	1	0	0
RNF38	152006	broad.mit.edu	37	9	36390574	36390574	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:36390574G>A	ENST00000259605.6	-	2	159	c.52C>T	c.(52-54)Cct>Tct	p.P18S	RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000377885.2_5'UTR|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000491349.1_5'UTR	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	18							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACCTTGTTAGGATGGCCAGGT	0.488000													33	9					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74988710	74988710	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:74988710C>T	ENST00000261978.4	-	17	3078	c.2692G>A	c.(2692-2694)Gga>Aga	p.G898R	LTBP2_ENST00000556690.1_Missense_Mutation_p.G898R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	898	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGCCCTTTTCCCTTGCAGGGG	0.617000													8	16					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11094906	11094906	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:11094906G>A	ENST00000400897.3	-	8	1081	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	356	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCATTGGCCGGTCCCAAGAT	0.483000													9	14					0	0	1	0	0
MIR517C	574492	broad.mit.edu	37	19	54244631	54244631	+	RNA	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:54244631T>A	ENST00000385103.1	+	0	65					NR_030214.1																						AGATCGTGCATCCTTTTAGAG	0.408000													14	34					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:106814408G>A	ENST00000407775.2	+	8	2348	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_ENST00000517361.1_Missense_Mutation_p.E568K|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E431K|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E568K|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	700					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)			CAGCCGGCACGAAACATACAT	0.488000													9	24					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78092030	78092030	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:78092030C>T	ENST00000302262.3	+	18	2739	c.2520C>T	c.(2518-2520)ccC>ccT	p.P840P	GAA_ENST00000390015.3_Silent_p.P840P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	840					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCAGCAGCCCATGGCCCTGG	0.662000													15	50					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51820450	51820450	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:51820450T>C	ENST00000579534.1	+	10	1979	c.1836T>C	c.(1834-1836)tcT>tcC	p.S612S	POLI_ENST00000406285.3_Silent_p.S533S|POLI_ENST00000217800.5_Silent_p.S486S|POLI_ENST00000579434.1_Silent_p.S509S	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	612	Ser-rich.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GCAGTAGTTCTTCTTACATGT	0.353000								DNA polymerases (catalytic subunits)					21	27					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26881493	26881493	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:26881493G>A	ENST00000308360.7	-	12	1788	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	PIGS_ENST00000395346.2_Silent_p.A463A|PIGS_ENST00000543734.1_Silent_p.A410A	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	471					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACTTCTGGACGGCAGCTACAG	0.557000													32	76					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486805	125486805	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:125486805C>T	ENST00000259466.1	+	1	537	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGCACTTTTTCTGTGACACCC	0.507000													50	62					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689549	153689549	+	Silent	SNP	C	C	T	rs148620908		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:153689549C>T	ENST00000369682.3	+	3	880	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	235	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCCTCCTTCGTGTACTTCC	0.557000													36	13					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898359	104898359	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:104898359C>T	ENST00000507740.1	+	2	1192	c.956C>T	c.(955-957)tCg>tTg	p.S319L	RIMS2_ENST00000436393.2_Missense_Mutation_p.S289L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S511L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S319L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	542					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S289L(1)|p.S547L(1)|p.S319L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCAGATTTCGTTGAGCAGT	0.428000										HNSCC(12;0.0054)			14	19					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455060	27455060	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:27455060C>T	ENST00000264705.4	+	17	2775	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F	CAD_ENST00000403525.1_Silent_p.F808F|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	871	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTCTTGGCTTCTCAGACAAAC	0.547000													31	37					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47847571	47847571	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:47847571C>T	ENST00000359568.5	+	34	7463	c.7356C>T	c.(7354-7356)gaC>gaT	p.D2452D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2452					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGAGGGGACCTTCTGCAGG	0.567000													30	40					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72186193	72186193	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:72186193T>C	ENST00000324262.4	+	11	1536	c.1220T>C	c.(1219-1221)gTt>gCt	p.V407A	CNDP2_ENST00000579847.1_Missense_Mutation_p.V407A|CNDP2_ENST00000324301.8_Missense_Mutation_p.V323A	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	407						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTTTTTGGTGTTGAGCCAGAC	0.547000													30	46					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885109	88885109	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:88885109G>A	ENST00000319675.3	-	1	1187	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	364										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						GGCCACACTGGGAATGTCGTT	0.602000													21	26					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1647274	1647274	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:1647274A>C	ENST00000252804.4	-	19	3868	c.3818T>G	c.(3817-3819)aTc>aGc	p.I1273S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1273					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)		GTCGCATAGGATCCTGGCCAG	0.607000													4	29					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117554315	117554315	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:117554315G>A	ENST00000256652.4	+	3	626	c.568G>A	c.(568-570)Gga>Aga	p.G190R	CD101_ENST00000369470.1_Missense_Mutation_p.G190R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	190	Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACACAGGATGGAGGAGGAAG	0.512000													18	35					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273954	28273954	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:28273954A>T	ENST00000305242.5	-	4	661	c.569T>A	c.(568-570)aTt>aAt	p.I190N	ARMC4_ENST00000239715.3_Missense_Mutation_p.I47N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	190							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						TCACAATGAAATATGTTTTAG	0.393000													5	3					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283051	5283051	+	Missense_Mutation	SNP	G	G	A	rs148868355	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:5283051G>A	ENST00000546004.1	-	3	1036	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	PROKR2_ENST00000217270.3_Missense_Mutation_p.R264C			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	264						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGCCGCTTGCGAATCTGCTCC	0.612000										HNSCC(71;0.22)			17	21					0	0	1	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215878	21215878	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:21215878G>A	ENST00000326842.2	+	2	266	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	47					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGAATTCAAAGAGTACAAATG	0.383000													25	37					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	943807	943807	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:943807C>T	ENST00000265846.5	-	6	823	c.604G>A	c.(604-606)Gac>Aac	p.D202N	ADAP1_ENST00000449296.2_Missense_Mutation_p.D130N|ADAP1_ENST00000539900.1_Missense_Mutation_p.D213N|ADAP1_ENST00000463358.1_5'UTR	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	202	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTGCTGTTGTCCTTCAGGTAG	0.647000													523	37					0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30517760	30517760	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:30517760C>T	ENST00000336726.6	+	9	905	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	HORMAD2_ENST00000403975.1_Missense_Mutation_p.L184F	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	184	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			TACTATGAAACTCCACTACTA	0.363000													6	5					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626760	140626760	+	Silent	SNP	C	C	T	rs17844628		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140626760C>T	ENST00000231173.3	+	1	1614	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		538	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCGGCTTCCCGGCGCTGA	0.672000													32	32					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328149	80328149	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:80328149G>A	ENST00000358842.3	-	1	1223	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	402					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTCGGGTTTGGAAACAAACAG	0.443000													34	44					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164509	34164509	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:34164509G>A	ENST00000373381.4	-	24	3945	c.3769C>T	c.(3769-3771)Ccc>Tcc	p.P1257S	CSMD2_ENST00000373380.1_Missense_Mutation_p.P130S|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1217	Sushi 7.					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)				CCAAACTTGGGGGTTCCTGGG	0.512000													23	30					0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43756547	43756547	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:43756547C>T	ENST00000458276.2	+	5	893	c.770C>T	c.(769-771)cCa>cTa	p.P257L		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	257					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GTGCAGACTCCAAGGTGAGGG	0.393000													20	12					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739587	38739587	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38739587G>A	ENST00000449082.2	-	27	5123	c.5124C>T	c.(5122-5124)atC>atT	p.I1708I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1708					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)	TGAGGAAGGAGATGATGATGT	0.542000													32	38					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608657	177608657	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:177608657G>A	ENST00000280193.2	-	6	1244	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	277					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CAGATGTCATGGAATCCATCT	0.468000													7	7					0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32108232	32108232	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:32108232A>C	ENST00000327423.6	-	4	5782	c.5593T>G	c.(5593-5595)Tct>Gct	p.S1865A	PRR14L_ENST00000434485.1_Missense_Mutation_p.S1865A|PRR14L_ENST00000397493.2_Missense_Mutation_p.S1865A	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1865										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GAGGCTGGAGACCGTAACCCT	0.527000													40	67					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269450	150269450	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:150269450G>A	ENST00000255945.2	+	3	467	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	GIMAP4_ENST00000461940.1_Missense_Mutation_p.E112K|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	98							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)		GCCCAATGCTGAAACGTCCAA	0.512000													23	31					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639249	15639249	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:15639249A>G	ENST00000378076.3	-	21	2521	c.2168T>C	c.(2167-2169)aTg>aCg	p.M723T	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	723					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACACACCACCATCCTGGTTAC	0.458000													41	18					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740708	140740708	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140740708G>A	ENST00000522605.1	+	1	1006	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_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)			TATCCAAGTTGAAATTCTTGA	0.443000													13	13					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2947360	2947360	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:2947360C>T	ENST00000381130.2	+	8	1272	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	424						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGTTCCTCTTCCACTACTGTG	0.567000													47	8					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1577111	1577111	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:1577111G>A	ENST00000572621.1	-	21	3640	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I	PRPF8_ENST00000304992.6_Silent_p.I1125I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1125						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATAGCCAACGATGTTTTCAT	0.512000													38	67					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097322	144097322	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:144097322C>A	ENST00000467773.1	-	5	927	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	NOBOX_ENST00000483238.1_Missense_Mutation_p.G310W|NOBOX_ENST00000223140.5_Missense_Mutation_p.G225W	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	310					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGGTCACCCCCACCGTCTGG	0.552000													27	38					9.80776e-20	9.95e-20	1	1	0
VCAM1	7412	broad.mit.edu	37	1	101196957	101196957	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:101196957T>C	ENST00000294728.2	+	6	1509	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.F378L|VCAM1_ENST00000370119.4_Missense_Mutation_p.F408L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	470	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGAAATGACCTTCATCCCTAC	0.388000													20	29					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130677	161130677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:161130677C>T	ENST00000368002.3	+	3	624	c.247C>T	c.(247-249)Cga>Tga	p.R83*	USP21_ENST00000289865.8_Nonsense_Mutation_p.R83*|USP21_ENST00000368001.1_Nonsense_Mutation_p.R83*	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	83					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGCCCCCTTCGAGCAGATCA	0.637000													42	37					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834288	125834288	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:125834288C>T	ENST00000299308.3	+	2	351	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	115						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGACAAATTTCCCTTCAACTG	0.468000													44	60					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238555	48238555	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:48238555C>T	ENST00000309562.2	+	1	212	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCTGCCTGTCCTTGGTGGAG	0.488000													41	59					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72144482	72144482	+	Nonsense_Mutation	SNP	G	G	A	rs145598484		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:72144482G>A	ENST00000356056.5	-	36	6938	c.6466C>T	c.(6466-6468)Cga>Tga	p.R2156*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2156*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2137*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2227*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2156	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCATAGCTCGAAGAAATTCC	0.418000													46	35					0	0	1	0	0
C15orf53	400359	broad.mit.edu	37	15	38990343	38990343	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:38990343G>A	ENST00000318792.1	+	2	147	c.137G>A	c.(136-138)gGa>gAa	p.G46E		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	46										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		ttacagggaggaaagctgagg	0.398000													12	24					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64529517	64529517	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:64529517C>T	ENST00000358025.3	+	50	10346	c.10116C>T	c.(10114-10116)taC>taT	p.Y3372Y	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.Y3372Y|SYNE2_ENST00000554584.1_Silent_p.Y3405Y|SYNE2_ENST00000555002.1_Silent_p.Y6Y	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3372					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)		AGGATATTTACACTAACCTCA	0.368000													10	20					0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51851242	51851242	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:51851242G>A	ENST00000581310.1	-	9	856	c.483C>T	c.(481-483)aaC>aaT	p.N161N	STARD6_ENST00000307844.3_Silent_p.N161N|STARD6_ENST00000580990.2_Silent_p.N37N			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	161	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AATATGCTGGGTTTCTGTAAG	0.328000													14	18					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32155500	32155500	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32155500G>A	ENST00000375050.4	-	5	1064	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	265							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						ACTCAGGTGGGAGTAGAAATA	0.517000													8	438					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947545	8947545	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:8947545C>T	ENST00000326053.5	-	5	775	c.669G>A	c.(667-669)gaG>gaA	p.E223E	C11orf16_ENST00000525780.1_Silent_p.E223E	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	223										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TGTGCAGCCTCTCCACAGCCT	0.557000													46	57					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41599627	41599627	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:41599627C>T	ENST00000330436.3	+	6	924	c.924C>T	c.(922-924)acC>acT	p.T308T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	308					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCGTGAGCACCACCCTGCGCT	0.567000													83	10					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57216218	57216218	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:57216218G>A	ENST00000205214.6	-	11	1879	c.1699C>T	c.(1699-1701)Ctg>Ttg	p.L567L	AASDH_ENST00000602986.1_Silent_p.L414L|AASDH_ENST00000502617.1_Silent_p.L567L|AASDH_ENST00000513376.1_Silent_p.L467L|AASDH_ENST00000434343.2_Silent_p.L82L|AASDH_ENST00000451613.1_Silent_p.L567L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	567	Acyl carrier.				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGGAGATTCAGAGTAGACTAC	0.388000													3	6					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41224549	41224549	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:41224549G>A	ENST00000249749.5	+	6	1030	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	252	EGF-like 2.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTGTGTAACGAATGCATCCC	0.622000													44	122					0	0	1	0	0
TRAV24	28659	broad.mit.edu	37	14	22574012	22574012	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:22574012G>A	ENST00000390453.1	+	0	232																											AAATGGGGATGAAAAGAAGAA	0.443000													7	9					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17139104	17139104	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:17139104C>T	ENST00000265970.7	-	18	3149	c.3150G>A	c.(3148-3150)acG>acA	p.T1050T	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.T670T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1050					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)	GTACAAGTTTCGTCTGTTTTA	0.418000													22	52					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60989037	60989037	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:60989037T>G	ENST00000252998.1	-	10	1526	c.1370A>C	c.(1369-1371)aAg>aCg	p.K457T		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		GCCGGCCGGCTTGGGAGTGTC	0.726000													4	8					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579330	33579330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:33579330C>T	ENST00000228567.3	-	2	548	c.252G>A	c.(250-252)tgG>tgA	p.W84*	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	84						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTTTGCTTTTCCAGCATGGCC	0.433000													10	9					0	0	1	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106993902	106993902	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:106993902G>A	ENST00000390624.2	-	0	341																											TCTGGAGATGGTGAATCGGCC	0.512000													7	115					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877314	38877314	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:38877314C>T	ENST00000359357.3	+	63	9137	c.8883C>T	c.(8881-8883)gcC>gcT	p.A2961A	DNAH8_ENST00000441566.1_Silent_p.A2925A|DNAH8_ENST00000449981.2_Silent_p.A3178A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTTCCGTGCCCGTTCTTTGA	0.473000													15	75					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158066793	158066793	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:158066793C>T	ENST00000359775.5	+	6	1666	c.777C>T	c.(775-777)ttC>ttT	p.F259F	ZDHHC14_ENST00000414563.2_Silent_p.F259F|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	259						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)		TGGTGTGCTTCTTCTCTGTCT	0.552000													10	19					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706597	128706597	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:128706597C>T	ENST00000265068.5	-	4	696	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E177K|KIAA1257_ENST00000515659.1_Missense_Mutation_p.E65K	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	177										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTTAATAATTCCTTTGTCACA	0.398000													13	10					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229364	39229364	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:39229364C>T	ENST00000340369.3	-	2	1801	c.1573G>A	c.(1573-1575)Ggc>Agc	p.G525S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G525S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	525							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)		GGGCTTCGGCCGAGCTGGTCT	0.622000													22	30					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171101	34171101	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:34171101C>T	ENST00000588240.1	+	13	1142	c.1027C>T	c.(1027-1029)Cgt>Tgt	p.R343C	TAF15_ENST00000592237.1_Missense_Mutation_p.R252C|TAF15_ENST00000311979.3_Missense_Mutation_p.R340C	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	343	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATATAGAGGTCGTGGAGGCTT	0.488000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								46	77					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133721423	133721423	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:133721423T>G	ENST00000409261.1	-	8	822	c.449A>C	c.(448-450)gAg>gCg	p.E150A	NCKAP5_ENST00000409213.1_Missense_Mutation_p.E150A|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E150A|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E150A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	150							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						ATGTTTTCTCTCTTCCTCTGA	0.403000													44	85					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36115827	36115827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:36115827C>T	ENST00000303965.4	-	26	4610	c.4121G>A	c.(4120-4122)tGg>tAg	p.W1374*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1374	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.W1374L(1)		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						AAATGTGGCCCAAATATCACC	0.294000													36	67					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16035485	16035485	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:16035485C>T	ENST00000350896.3	-	2	210	c.13G>A	c.(13-15)Gat>Aat	p.D5N	MSR1_ENST00000262101.5_Missense_Mutation_p.D5N|MSR1_ENST00000536385.1_5'UTR|MSR1_ENST00000445506.2_Missense_Mutation_p.D23N|MSR1_ENST00000355282.2_Missense_Mutation_p.D5N|MSR1_ENST00000381998.4_Missense_Mutation_p.D5N	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	5					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGAAAGTGATCCCACTGCTCC	0.388000													10	20					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517122	158517122	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158517122G>A	ENST00000302617.3	-	1	773	c.774C>T	c.(772-774)tcC>tcT	p.S258S		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAAGTGTCATGGAATAGAAGA	0.498000													34	88					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370292	35370292	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:35370292G>A	ENST00000373347.1	-	3	961	c.693C>T	c.(691-693)caC>caT	p.H231H	DLGAP3_ENST00000235180.4_Silent_p.H231H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	231	Poly-His.				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ggtggtggtggtgatggtggt	0.662000													29	38					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170080	32170080	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32170080C>T	ENST00000375023.3	-	21	3666	c.3528G>A	c.(3526-3528)aaG>aaA	p.K1176K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1176					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						CCTCACACCCCTTGGCTCCGG	0.662000													78	231					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944407	55944407	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55944407G>A	ENST00000312298.1	+	1	314	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	105					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)					TTGTGTTTCGGAGTGTTCATC	0.463000													33	50					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5848555	5848555	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:5848555G>A	ENST00000356134.5	-	14	1424	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Silent_p.F451F|ANO2_ENST00000327087.8_Silent_p.F450F	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	455						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						AGTTTTCCAGGAACATGGTAG	0.438000													3	4					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158456922	158456922	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:158456922G>A	ENST00000409339.3	-	15	1882	c.1769C>T	c.(1768-1770)cCa>cTa	p.P590L	NCAPG2_ENST00000356309.3_Missense_Mutation_p.P590L|NCAPG2_ENST00000275830.10_Missense_Mutation_p.P382L|NCAPG2_ENST00000541468.1_Missense_Mutation_p.P91L|NCAPG2_ENST00000409423.1_Missense_Mutation_p.P590L|NCAPG2_ENST00000449727.2_Missense_Mutation_p.P590L			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	590					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTCGTCCTCTGGAGGCTCTCT	0.493000													43	48					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35481508	35481508	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:35481508C>T	ENST00000308700.6	+	4	1512	c.560C>T	c.(559-561)tCg>tTg	p.S187L	ISX_ENST00000404699.2_Missense_Mutation_p.S187L	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TGTTGTCCATCGGCTCAAGAT	0.612000													53	67					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528033	157528033	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:157528033G>T	ENST00000346085.5	+	20	5759	c.5758G>T	c.(5758-5760)Gag>Tag	p.E1920*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.E1960*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.E1902*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.E1907*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1907					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGCTGCTGGAGGACGAGCC	0.567000													31	54					1.55811e-20	1.58289e-20	1	1	0
MYO3B	140469	broad.mit.edu	37	2	171248040	171248040	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:171248040A>C	ENST00000334231.6	+	15	1615	c.1615A>C	c.(1615-1617)Aat>Cat	p.N539H	MYO3B_ENST00000408978.4_Missense_Mutation_p.N530H|MYO3B_ENST00000409044.3_Missense_Mutation_p.N530H|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	530	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAGAGAGAAAAATTTTCATAT	0.328000													8	12					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240029877	240029877	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:240029877G>A	ENST00000345617.3	-	15	2757	c.1966C>T	c.(1966-1968)Ctc>Ttc	p.L656F	HDAC4_ENST00000541256.1_Missense_Mutation_p.L630F|HDAC4_ENST00000543185.1_Missense_Mutation_p.L240F	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	656	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCATACACGAGGCCTGGGGCG	0.687000													4	6					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347200	48347200	+	Silent	SNP	C	C	T	rs141730559		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:48347200C>T	ENST00000319856.4	+	1	729	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	209					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						TGTTGAACTTCCTCATGCTGG	0.522000													19	29					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773723	157773723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:157773723C>T	ENST00000358292.3	-	3	282	c.231G>A	c.(229-231)tgG>tgA	p.W77*	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Nonsense_Mutation_p.W77*|FCRL1_ENST00000368176.3_Nonsense_Mutation_p.W77*	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	77	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTCTTCTTTCCACATGGCAG	0.552000													68	56					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343096	69343096	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:69343096C>T	ENST00000305363.4	+	8	781	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	239	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GATATAAGAACCCTGCCAGAT	0.343000													39	86					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266120	65266120	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:65266120C>T	ENST00000534336.1	+	0	888					NR_002819.2																						AAGTAAAGCCCTGAACTATCA	0.458000													18	50					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242194856	242194856	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:242194856G>A	ENST00000391975.1	-	8	1240	c.1013C>T	c.(1012-1014)tCt>tTt	p.S338F	HDLBP_ENST00000391976.2_Missense_Mutation_p.S338F|HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Missense_Mutation_p.S338F	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	338	KH 3.				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)		TACAGTCTCAGAGATGCTGTC	0.493000													21	37					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42833144	42833144	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:42833144C>T	ENST00000314073.5	+	13	3376	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S1067F					GLTSCR1-like																		GAAACTGACTCCATTTTAGAA	0.517000													42	116					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26700092	26700092	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:26700092T>C	ENST00000272371.2	-	21	2597	c.2471A>G	c.(2470-2472)aAg>aGg	p.K824R	OTOF_ENST00000402415.3_Missense_Mutation_p.K134R|OTOF_ENST00000339598.3_Missense_Mutation_p.K77R|OTOF_ENST00000338581.6_Missense_Mutation_p.K77R|OTOF_ENST00000403946.3_Missense_Mutation_p.K824R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	824					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCTCAGCTTGTCCCGCAC	0.652000													10	11					0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337335	6337335	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:6337335G>A	ENST00000507444.1	-	0	70					NR_028351.1																						GAGCAGCAGGGATACTTTTTA	0.532000													23	36					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712501	121712501	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:121712501C>T	ENST00000273691.3	-	6	1068	c.963G>A	c.(961-963)agG>agA	p.R321R	ILDR1_ENST00000462014.1_Silent_p.R333R|ILDR1_ENST00000344209.5_Silent_p.R365R|ILDR1_ENST00000393631.1_Silent_p.R276R|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	365						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TTCTCCCCTCCCTCAGATCCC	0.597000													19	34					0	0	1	0	0
RPL39L	116832	broad.mit.edu	37	3	186839019	186839019	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:186839019G>A	ENST00000296277.4	-	3	472	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	RPL39L_ENST00000433055.1_Missense_Mutation_p.P24S|RPL39L_ENST00000455270.1_Missense_Mutation_p.P24S	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	24					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		ATCCACTGGGGGATGGGACGA	0.448000													44	44					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159860322	159860322	+	Missense_Mutation	SNP	G	G	A	rs62640918	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:159860322G>A	ENST00000368099.4	-	3	284	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	74						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)			TCTGGCTTGCGATCCAAGCCC	0.552000													58	109					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44604989	44604989	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:44604989C>T	ENST00000336976.6	+	4	305	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	17	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CTGTGGTCTTCACTGAGGAAG	0.522000													44	126					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135756462	135756462	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:135756462G>A	ENST00000375845.3	-	5	450	c.420C>T	c.(418-420)ccC>ccT	p.P140P	MAP3K19_ENST00000392917.3_Silent_p.P140P|MAP3K19_ENST00000392918.3_Silent_p.P140P|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Silent_p.P140P|MAP3K19_ENST00000392915.1_Silent_p.P157P|MAP3K19_ENST00000358371.4_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.P140P(1)									GCAAAACTAAGGGCCGCATGG	0.433000													18	25					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45489794	45489794	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:45489794C>T	ENST00000541297.2	+	7	1177	c.712C>T	c.(712-714)Ccg>Tcg	p.P238S	CLPTM1_ENST00000546079.1_Missense_Mutation_p.P150S|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Missense_Mutation_p.P252S			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	252					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CGACCACACGCCGTGGGTGAA	0.622000													470	73					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920690	4920690	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:4920690G>A	ENST00000433855.1	+	1	2349	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	KCNA6_ENST00000280684.3_Missense_Mutation_p.G495R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	495						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						AACTGACAACGGACTTGGCAA	0.592000										HNSCC(72;0.22)			24	37					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645698	51645698	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:51645698G>A	ENST00000317643.6	+	1	141	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SIGLEC7_ENST00000600577.1_Silent_p.K24K|SIGLEC7_ENST00000305628.7_Silent_p.K24K	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	24					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.K24N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GTAACCGGAAGGATTACTCGC	0.607000													5	40					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180115	124180115	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:124180115G>A	ENST00000357821.2	-	1	618	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATTGAGGAGGGGAAGAACATC	0.458000													14	5					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866303	118866303	+	Missense_Mutation	SNP	C	C	T	rs113445078		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:118866303C>T	ENST00000295622.1	+	1	1307	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.P28S	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	423										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCCTACAACCCAGTTGATGC	0.448000													17	33					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132585262	132585262	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:132585262A>G	ENST00000265342.7	-	7	983	c.734T>C	c.(733-735)gTt>gCt	p.V245A	FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	245						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGAGCTGAACCACTTCTGC	0.602000											OREG0005128	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	6	18					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214476	13214476	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:13214476C>T	ENST00000378694.1	+	3	525	c.450C>T	c.(448-450)tcC>tcT	p.S150S	MCM10_ENST00000378714.3_Silent_p.S150S|MCM10_ENST00000484800.2_Silent_p.S150S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	150					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGCAAAAATCCCCTGGTAAGA	0.403000													20	16					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330417	25330417	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:25330417C>T	ENST00000546682.1	+	0	401				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						ATAGGGAGTCCCTTGATATGT	0.512000													5	10					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487691	108487691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:108487691G>A	ENST00000408999.3	+	20	3308	c.3231G>A	c.(3229-3231)tgG>tgA	p.W1077*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.W1077*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1077	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAAGGCAGTGGAAAGAAAGGG	0.393000													133	175					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228109668	228109668	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:228109668G>A	ENST00000396578.3	+	5	443	c.279_splice	c.e5-1	p.G94_splice	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	94	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGTCTTCAGGGAATAAGTGGA	0.313000													48	56					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190358	58190358	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:58190358T>C	ENST00000302581.2	-	1	428	c.377A>G	c.(376-378)aAa>aGa	p.K126R		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGTAGGGGTTTGCACACTGC	0.512000													18	36					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38904762	38904762	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38904762T>A	ENST00000450244.1	-	24	4178	c.3980A>T	c.(3979-3981)gAa>gTa	p.E1327V	SCN11A_ENST00000444237.2_Missense_Mutation_p.E1327V|SCN11A_ENST00000456224.3_Missense_Mutation_p.E1289V|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1327V			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1327					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTCTGTTCTTCTGTCATAAA	0.328000													14	26					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62022171	62022171	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:62022171C>T	ENST00000578147.1	-	21	3851		c.e21-1		SCN4A_ENST00000435607.1_Splice_Site			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						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)	GCTCCTCCTTCTGTGGGAGCC	0.592000													11	12					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100625006	100625006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:100625006C>T	ENST00000308731.7	-	5	534	c.371G>A	c.(370-372)tGg>tAg	p.W124*	BTK_ENST00000372880.1_Nonsense_Mutation_p.W124*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	124	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTGGTGAATCCACCGCTTCCT	0.428000									Agammaglobulinemia, X-linked				43	8					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71335036	71335036	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:71335036G>A	ENST00000392650.3	-	45	6209	c.6209C>T	c.(6208-6210)gCc>gTc	p.A2070V	SDK2_ENST00000388726.3_Missense_Mutation_p.A2051V|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2070					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AAAGGAGTGGGCCTTCTGGTG	0.582000													18	34					0	0	1	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216002	21216002	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:21216002G>A	ENST00000326842.2	+	2	390	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	88					sperm displacement	extracellular space		p.R88Q(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453000													19	21					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121702	38121702	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38121702C>T	ENST00000406386.3	+	7	3394	c.3139C>T	c.(3139-3141)Cct>Tct	p.P1047S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1047					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCCCGCGCCCCTGAGAGTGA	0.667000													34	61					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100350249	100350249	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:100350249C>T	ENST00000294724.4	+	20	3149	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S	AGL_ENST00000370163.3_Missense_Mutation_p.P891S|AGL_ENST00000361302.3_Missense_Mutation_p.P875S|AGL_ENST00000361915.3_Missense_Mutation_p.P891S|AGL_ENST00000370161.2_Missense_Mutation_p.P875S|AGL_ENST00000370165.3_Missense_Mutation_p.P891S|AGL_ENST00000361522.4_Missense_Mutation_p.P874S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	891					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATTAAAAATTCCTTTTGCTTC	0.378000													35	4					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88472834	88472834	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:88472834G>A	ENST00000324166.5	+	1	1856	c.165G>A	c.(163-165)gtG>gtA	p.V55V	THNSL2_ENST00000343544.4_Silent_p.V55V|THNSL2_ENST00000402102.1_Silent_p.V55V|THNSL2_ENST00000449349.1_Silent_p.V23V|THNSL2_ENST00000377254.3_Silent_p.V55V|THNSL2_ENST00000358591.2_Silent_p.V55V	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	55					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CTGGCCTGGTGAAGGAGCTGT	0.557000													30	26					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713473	70713473	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:70713473G>A	ENST00000530196.1	-	0	1045					NR_003951.1																						ACTTATAAGTGAATTTTTTAT	0.383000													26	53					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99364064	99364064	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:99364064G>A	ENST00000354593.2	-	4	454	c.351C>T	c.(349-351)caC>caT	p.H117H	CYP3A4_ENST00000336411.2_Silent_p.H267H			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	267					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATCCACTCGGTGCTAGAAGC	0.448000													20	26					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190924968	190924968	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:190924968G>A	ENST00000260950.4	-	2	699	c.567C>T	c.(565-567)atC>atT	p.I189I	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	189					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)			TCAGAGATCGGATTCCAGTAT	0.428000													27	39					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100405170	100405170	+	Silent	SNP	G	G	A	rs112613465		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100405170G>A	ENST00000358173.3	-	13	2619	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	EPHB4_ENST00000360620.3_Silent_p.L717L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	717	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATGCCCACGAGCTGGATGA	0.617000													22	29					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72005444	72005444	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:72005444G>A	ENST00000294053.3	-	15	1868	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	CLPB_ENST00000340729.5_Silent_p.I506I|CLPB_ENST00000538021.1_Silent_p.I173I|CLPB_ENST00000543042.1_Silent_p.I364I|CLPB_ENST00000538039.1_Silent_p.I535I|CLPB_ENST00000437826.2_Silent_p.I520I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	565					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGAAGTAGACGATCTCATTGA	0.557000													120	192					0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35262025	35262025	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:35262025C>T	ENST00000262866.4	-	4	621	c.199G>A	c.(199-201)Gac>Aac	p.D67N	SLA2_ENST00000360672.2_Missense_Mutation_p.D67N	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	67	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTCCACCAGTCTCCATCCCTG	0.597000													22	25					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661252	102661252	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:102661252C>T	ENST00000315274.6	-	10	1368	c.1300_splice	c.e10-1	p.G434_splice	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	434	Hemopexin-like 4.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G434E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ATAGAAAAATCCTAGAAACAA	0.323000													6	6					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127185	146127185	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:146127185T>C	ENST00000237281.4	-	2	523	c.357A>G	c.(355-357)caA>caG	p.Q119Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	119							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCATATCCAATTGTGCCACTT	0.428000													38	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455074	179455074	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179455074C>T	ENST00000589042.1	-	304	61602	c.61378G>A	c.(61378-61380)Gaa>Aaa	p.E20460K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11587K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11520K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17892K|TTN_ENST00000460472.2_Missense_Mutation_p.E11395K|TTN_ENST00000591111.1_Missense_Mutation_p.E18819K|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18819	Fibronectin type-III 48.						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)			TCTGCTAGTTCTCTTGGCTCA	0.418000													31	39					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141428	8141428	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:8141428G>A	ENST00000315684.8	-	4	575	c.568C>T	c.(568-570)Cct>Tct	p.P190S	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	190					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ATGGTCAAAGGAAACACTGGC	0.577000													37	40					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98092189	98092189	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:98092189C>T	ENST00000419175.1	+	9	1365	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	DNTT_ENST00000371174.2_Missense_Mutation_p.H399Y	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	399	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCTTTGGATCATTTTCAAAA	0.433000													26	6					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493866	6493866	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:6493866G>A	ENST00000361413.3	-	17	2883	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	KIAA0753_ENST00000572370.1_Missense_Mutation_p.A543V|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A298V|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A543V	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	842						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GATGTTCACGGCTGGATCCTT	0.413000													25	22					0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122365030	122365030	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:122365030C>T	ENST00000306442.4	-	2	316	c.201G>A	c.(199-201)gtG>gtA	p.V67V		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	67	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CAAAATTTTCCACTGTCTTGG	0.388000													16	49					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848829	73848829	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:73848829C>T	ENST00000523207.1	+	3	1827	c.1239C>T	c.(1237-1239)atC>atT	p.I413I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	413					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCTTCCTATCCCAATTATTG	0.443000													36	37					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751047	140751047	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140751047G>A	ENST00000576222.1	+	1	1217	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_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)			ATGCTGAGCTGGGGACTGCCG	0.403000													13	16					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900147	125900147	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:125900147G>A	ENST00000299308.3	+	3	1023	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	339						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAGTCCAGGAGGAAATTGA	0.542000													29	30					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886163	88886163	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:88886163C>T	ENST00000319675.3	-	1	133	c.37G>A	c.(37-39)Gac>Aac	p.D13N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	13										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						TTCTGCTTGTCTGCTTCCTCG	0.522000													20	28					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831816	32831816	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:32831816G>A	ENST00000397452.1	-	9	909	c.799C>T	c.(799-801)Cct>Tct	p.P267S	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Missense_Mutation_p.P81S|BPIFC_ENST00000300399.3_Missense_Mutation_p.P267S			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	267						extracellular region	lipopolysaccharide binding|phospholipid binding										AGCACAAAAGGAACTGGTGAG	0.473000													30	43					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52799753	52799753	+	Silent	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:52799753G>T	ENST00000257974.2	-	1	386	c.309C>A	c.(307-309)gtC>gtA	p.V103V		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	103	Head.					keratin filament	protein binding|structural constituent of epidermis	p.V103V(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GTGCCAGTGGGACCAGCAGGC	0.572000													50	57					3.21987e-24	3.27562e-24	1	1	0
ZNF606	80095	broad.mit.edu	37	19	58490579	58490579	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:58490579C>T	ENST00000341164.4	-	7	2089	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	ZNF606_ENST00000536132.1_Missense_Mutation_p.G400E	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GAAAGATTTCCCACACTCATT	0.368000													8	28					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81627211	81627211	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:81627211T>G	ENST00000548058.1	+	13	2590	c.1680T>G	c.(1678-1680)aaT>aaG	p.N560K	ACSS3_ENST00000261206.3_Missense_Mutation_p.N559K|ACSS3_ENST00000548324.1_Missense_Mutation_p.N242K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	560						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						ATGTAATAAATGTTGCAGGTC	0.388000													40	52					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984678	110984678	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:110984678C>T	ENST00000524391.1	-	3	1832	c.800G>A	c.(799-801)aGg>aAg	p.R267K	KCNV1_ENST00000297404.1_Missense_Mutation_p.R267K			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	267						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)			GAAGCGACACCTGTCCCGCAC	0.537000													24	24					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220472776	220472776	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:220472776C>T	ENST00000456909.1	+	14	1317	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	STK11IP_ENST00000295641.10_Silent_p.F420F			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	420					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGATGGTTCGTGCAGCAGC	0.627000													12	25					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35706282	35706282	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:35706282G>A	ENST00000373866.3	+	3	453	c.431G>A	c.(430-432)aGg>aAg	p.R144K	ARMC12_ENST00000373869.3_Missense_Mutation_p.R144K|ARMC12_ENST00000288065.2_Missense_Mutation_p.R171K			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	144							binding										AGAAAATTCAGGCTCAAAATC	0.463000													28	79					0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184611	39184611	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:39184611G>A	ENST00000273153.5	-	5	1882	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	CSRNP1_ENST00000514182.1_Missense_Mutation_p.P569S	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	569					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCAATAAAGGGATCTAGGGCT	0.592000													34	49					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52598464	52598464	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:52598464C>T	ENST00000521508.1	+	3	603	c.598C>T	c.(598-600)Cct>Tct	p.P200S	ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TGTTCATTATCCTACTATCAG	0.383000													56	108					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16244078	16244078	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:16244078C>T	ENST00000205557.7	-	31	4453	c.4424G>A	c.(4423-4425)gGg>gAg	p.G1475E		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1475	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGCCACCTGCCCCTTGTCCAT	0.652000													8	30					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133769527	133769527	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:133769527C>T	ENST00000356838.3	-	3	196	c.54G>A	c.(52-54)ttG>ttA	p.L18L	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.L18L|TMEM71_ENST00000523829.1_Silent_p.L18L	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	18						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATTCTCTTTCCAACCTGGAAG	0.393000													4	11					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758805	121758805	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:121758805G>A	ENST00000261367.7	+	6	1942	c.514G>A	c.(514-516)Gga>Aga	p.G172R	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G125R|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G172R|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G125R|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.G172R			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	125					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)		CCCTGGAGATGGAGTGGGCGG	0.562000													17	21					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100403258	100403258	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100403258G>T	ENST00000358173.3	-	15	3011	c.2543C>A	c.(2542-2544)tCc>tAc	p.S848Y	EPHB4_ENST00000360620.3_Missense_Mutation_p.S848Y	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	848	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGGTGGAGGGAGGTGGGACA	0.627000													56	70					9.04393e-38	9.21967e-38	1	1	0
TTN	7273	broad.mit.edu	37	2	179439686	179439686	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179439686C>T	ENST00000589042.1	-	326	71397	c.71173G>A	c.(71173-71175)Gat>Aat	p.D23725N	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D14852N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D14785N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D21157N|TTN_ENST00000460472.2_Missense_Mutation_p.D14660N|TTN_ENST00000591111.1_Missense_Mutation_p.D22084N|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22084	Fibronectin type-III 72.						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)			CCTGGGATATCATGGACTTGA	0.443000													10	15					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54392969	54392969	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:54392969C>T	ENST00000263431.3	+	4	645	c.363C>T	c.(361-363)ctC>ctT	p.L121L	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Silent_p.L121L|PRKCG_ENST00000536044.1_Silent_p.L121L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	121					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCTCCCTCCTCTACGGGCTTG	0.627000													22	2					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526994	97526994	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:97526994G>A	ENST00000305476.5	-	15	2003	c.1871C>T	c.(1870-1872)gCc>gTc	p.A624V		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	624	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGTGGTAGGCCCCGGCATG	0.711000													16	19					0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176261	111176261	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:111176261C>T	ENST00000267328.3	-	2	669	c.456G>A	c.(454-456)gaG>gaA	p.E152E		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	152					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACCGCATCCTCCAGCTGCA	0.582000													15	39					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227922301	227922301	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:227922301G>A	ENST00000396625.3	-	29	2606	c.2399C>T	c.(2398-2400)cCt>cTt	p.P800L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P800L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	800	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TAGGAATCCAGGAATGCCAGC	0.478000													8	23					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773223	140773223	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140773223C>T	ENST00000398604.2	+	1	843	c.843C>T	c.(841-843)ttC>ttT	p.F281F	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACAAATTCCGGAAAATTA	0.413000													30	59					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18730175	18730175	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:18730175C>T	ENST00000440756.2	-	3	301	c.199G>A	c.(199-201)Gag>Aag	p.E67K	PSD3_ENST00000327040.8_Missense_Mutation_p.E67K|PSD3_ENST00000523619.1_Missense_Mutation_p.E2K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	67					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCACCTTCCTCCATGGTCCCA	0.498000													26	42					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633613	69633613	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:69633613G>A	ENST00000337103.4	+	9	2604	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	C8orf34_ENST00000518698.1_Missense_Mutation_p.E449K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E363K|C8orf34_ENST00000325233.3_Missense_Mutation_p.E107K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	363					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCCTGGGACTGAAGAAGCACT	0.299000													4	14					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357710	114357710	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:114357710C>T	ENST00000317135.8	-	18	1925	c.1895G>A	c.(1894-1896)gGa>gAa	p.G632E	LRCH2_ENST00000538422.1_Missense_Mutation_p.G615E	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	632										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CATTGTAAATCCTGGATCTGC	0.408000													11	1					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294385	124294385	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:124294385G>A	ENST00000356130.3	-	1	404	c.383C>T	c.(382-384)cCc>cTc	p.P128L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		GTAGAGCAGGGGGTTGCAGAT	0.493000													22	5					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929031	4929031	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4929031G>A	ENST00000359350.4	+	1	432	c.432G>A	c.(430-432)atG>atA	p.M144I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCTAAAATGGGACTTATTT	0.368000													28	46					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900578	51900578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:51900578G>T	ENST00000268919.4	+	1	340	c.184G>T	c.(184-186)Gag>Tag	p.E62*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	62					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						AGAGTGGGTGGAGAAAGCAGT	0.557000													45	64					2.35958e-20	2.39546e-20	1	1	0
NPSR1	387129	broad.mit.edu	37	7	34724175	34724175	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:34724175G>A	ENST00000360581.1	+	2	287	c.159G>A	c.(157-159)ttG>ttA	p.L53L	NPSR1_ENST00000359791.1_Silent_p.L53L|NPSR1_ENST00000465305.1_Silent_p.L53L|NPSR1_ENST00000381539.3_Silent_p.L53L|NPSR1_ENST00000381553.3_Silent_p.L53L|NPSR1_ENST00000531252.1_Silent_p.L53L|NPSR1_ENST00000381542.1_Silent_p.L53L|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	53						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.L53F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGAGCAATTGATAACTCTGT	0.423000													28	45					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583450	119583450	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:119583450T>C	ENST00000267260.4	+	9	1424	c.1036T>C	c.(1036-1038)Ttg>Ctg	p.L346L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	346	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGGGGCCATGTTGGAGAATCT	0.597000													7	8					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145181	99145181	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:99145181T>A	ENST00000547776.2	-	25	3623	c.3624A>T	c.(3622-3624)aaA>aaT	p.K1208N	ANKS1B_ENST00000549025.2_Missense_Mutation_p.K306N|ANKS1B_ENST00000546568.1_Missense_Mutation_p.K374N|ANKS1B_ENST00000333732.7_Missense_Mutation_p.K238N|ANKS1B_ENST00000550693.2_Missense_Mutation_p.K398N|ANKS1B_ENST00000329257.7_Missense_Mutation_p.K1208N|ANKS1B_ENST00000546960.1_Missense_Mutation_p.K434N|ANKS1B_ENST00000332712.7_Missense_Mutation_p.K398N|ANKS1B_ENST00000549558.2_Missense_Mutation_p.K374N|ANKS1B_ENST00000547010.1_Missense_Mutation_p.K724N|ANKS1B_ENST00000341752.7_Missense_Mutation_p.K214N|ANKS1B_ENST00000549493.2_Missense_Mutation_p.K458N|ANKS1B_ENST00000547446.1_Missense_Mutation_p.K343N	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1208	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTTTGGAGGGTTTGTTTTCAA	0.488000													25	28					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109046160	109046160	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:109046160C>T	ENST00000261401.3	-	8	1061	c.889G>A	c.(889-891)Gat>Aat	p.D297N	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.D297N|CORO1C_ENST00000421578.2_Missense_Mutation_p.D192N|CORO1C_ENST00000549772.1_Missense_Mutation_p.D303N|CORO1C_ENST00000420959.2_Missense_Mutation_p.D350N	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	297					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGGGATTCATCCGTGATCTCA	0.468000													51	43					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395743	100395743	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:100395743C>T	ENST00000281806.2	-	3	601	c.287G>A	c.(286-288)gGg>gAg	p.G96E	MCHR2_ENST00000445970.1_Missense_Mutation_p.G96E|MCHR2_ENST00000369212.1_Missense_Mutation_p.G96E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	96						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G96E(1)		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)		CCACTCTCCCCCTCGGGCCCA	0.488000													45	58					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232316	71232316	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:71232316C>T	ENST00000359042.2	+	3	889	c.695C>T	c.(694-696)cCa>cTa	p.P232L	C17orf80_ENST00000426147.2_Missense_Mutation_p.P232L|C17orf80_ENST00000582793.1_Intron|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P232L|C17orf80_ENST00000535032.2_Missense_Mutation_p.P232L|C17orf80_ENST00000268942.8_Missense_Mutation_p.P232L|C17orf80_ENST00000577615.1_Missense_Mutation_p.P232L	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	232						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CATATTTCTCCAAAGAATGTC	0.403000													19	42					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135613	55135613	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55135613C>T	ENST00000314706.3	+	1	254	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	85					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						TCCCTGGGTTCCCCCATGTAC	0.408000													40	41					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16745268	16745268	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:16745268G>A	ENST00000381323.3	-	5	507	c.287C>T	c.(286-288)tCc>tTc	p.S96F	FAM49A_ENST00000355549.2_Missense_Mutation_p.S96F|FAM49A_ENST00000406434.1_Missense_Mutation_p.S96F	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	96						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TAGTCTAATGGAAAACTCGTA	0.418000													10	18					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031294	79031294	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:79031294C>T	ENST00000446378.2	+	2	6737	c.6706C>T	c.(6706-6708)Cat>Tat	p.H2236Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2236						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)		ACCAGCTGATCATTCATTATC	0.378000													34	74					0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145649477	145649477	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:145649477G>A	ENST00000377348.2	-	9	584	c.495C>T	c.(493-495)caC>caT	p.H165H	VPS28_ENST00000292510.4_Silent_p.H165H|VPS28_ENST00000526054.1_Silent_p.H165H|VPS28_ENST00000529182.1_Silent_p.H165H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	165	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTCATGCGGTGCATGGTCT	0.697000													25	48					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640197	57640197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:57640197C>T	ENST00000254181.4	+	4	608	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	USP29_ENST00000598197.1_Nonsense_Mutation_p.Q52*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	52					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATTTTTCAGCTGAGCAA	0.338000													30	3					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990307	134990307	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:134990307G>A	ENST00000535938.1	+	11	1386	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	SAGE1_ENST00000370709.3_Missense_Mutation_p.D407N|SAGE1_ENST00000324447.3_Missense_Mutation_p.D407N|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	407										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)					ACCAACCCCTGATAACGTCTT	0.443000													40	11					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762479	131762479	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:131762479G>A	ENST00000370836.2	-	4	2005	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	HS6ST2_ENST00000370837.1_Silent_p.F384F|HS6ST2_ENST00000370833.2_Silent_p.F424F|HS6ST2_ENST00000521489.1_Silent_p.F570F|HS6ST2_ENST00000406696.3_Silent_p.F256F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	530						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCTGGCTCTGGAAATGGGTCT	0.502000													22	9					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	82660706	82660706	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:82660706G>A	ENST00000268613.10	+	1	137	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	CDH13_ENST00000566620.1_Silent_p.P3P|CDH13_ENST00000431540.3_Silent_p.P3P|CDH13_ENST00000428848.3_Silent_p.P3P|CDH13_ENST00000446376.2_Silent_p.P3P|CDH13_ENST00000567445.1_Silent_p.P3P|CDH13_ENST00000565636.1_Silent_p.P3P			P55290	CAD13_HUMAN	cadherin 13	0					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)		AAATGCAGCCGAGAACTCCGC	0.627000													5	3					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013338	5013338	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5013338G>A	ENST00000380390.1	+	6	956	c.740G>A	c.(739-741)aGg>aAg	p.R247K	MMP26_ENST00000300762.1_Missense_Mutation_p.R247K			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	247					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATATCCAAAGGATCCAGCAT	0.453000													17	16					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436122	158436122	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158436122C>T	ENST00000289451.2	+	1	851	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	257					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)					GTGCCTCTTTCATCTACTTAA	0.423000													67	44					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100903441	100903441	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:100903441C>T	ENST00000393437.3	-	11	2644	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	LONRF2_ENST00000409647.1_Missense_Mutation_p.D426N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	669	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTCATGCGATCCTGGAGAGAC	0.468000													20	23					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	430940	430940	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:430940G>A	ENST00000256509.2	+	20	2895	c.2253G>A	c.(2251-2253)ttG>ttA	p.L751L	CHL1_ENST00000397491.2_Silent_p.L735L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	735	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		tttagcctttgaaatccatgg	0.468000													12	9					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24492992	24492992	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:24492992C>T	ENST00000264463.4	-	10	2065	c.1558G>A	c.(1558-1560)Ggt>Agt	p.G520S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	520	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G520S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGTCCACCTAAAGGGTCA	0.328000										HNSCC(23;0.051)			74	88					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:77401601C>T	ENST00000282849.5	-	4	933	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R172Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTTTTTCGTGTCCTTAT	0.463000													14	21					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62363555	62363555	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:62363555G>A	ENST00000278823.2	-	12	1430	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	MTA2_ENST00000527204.1_Silent_p.I174I|MTA2_ENST00000524902.1_Silent_p.I174I	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	347					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCACAGAAATGATCTGGTTAG	0.488000													14	24					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47556855	47556855	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:47556855A>T	ENST00000273859.3	+	11	2017	c.1748A>T	c.(1747-1749)tAc>tTc	p.Y583F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	583					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAACTTTGTACATTATCGAC	0.413000													26	28					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814615	106814615	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:106814615C>T	ENST00000407775.2	+	8	2555	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	ZFPM2_ENST00000517361.1_Missense_Mutation_p.P637S|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P500S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P637S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	769					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)			CCTCAATAATCCTTGTACCTC	0.473000													9	26					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117744354	117744354	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:117744354G>A	ENST00000276204.6	+	28	3143	c.3069G>A	c.(3067-3069)gtG>gtA	p.V1023V	DOCK11_ENST00000276202.7_Silent_p.V1023V			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1023					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						CCAGAAATGTGAACTATAGTT	0.423000													34	7					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768321	121768321	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:121768321G>A	ENST00000282561.3	+	2	485	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	110			E -> D (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GAACAAGAAAGAGGAAGAACT	0.438000													21	35					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571800	47571800	+	Splice_Site	SNP	G	G	A	rs149156333		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:47571800G>A	ENST00000334194.3	+	9	1071	c.1067_splice	c.e9-1	p.W356_splice	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	356						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCTACCCAGGGAACACCTGA	0.483000													28	40					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502336	91502336	+	Missense_Mutation	SNP	C	C	T	rs143511085		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:91502336C>T	ENST00000266718.4	-	2	875	c.421G>A	c.(421-423)Gat>Aat	p.D141N	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	141					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGCTGCAGATCCTCCAGAGAT	0.443000													42	36					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890954	23890954	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:23890954C>T	ENST00000532292.1	-	1	221	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AAGGGCTGCTCCAGCTGGACC	0.701000													4	9					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156589167	156589167	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:156589167G>A	ENST00000353442.4	-	5	575	c.339C>T	c.(337-339)tcC>tcT	p.S113S	LMBR1_ENST00000540390.1_Silent_p.S92S|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000354505.4_Silent_p.S113S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	113						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TGGAAAAAAGGGAAGCAAGAT	0.328000													5	9					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872467	4872467	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:4872467G>A	ENST00000252318.2	+	8	1745	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	470						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCACTCCGGGAAAAACTGAA	0.393000													17	26					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840728	840728	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:840728G>A	ENST00000283441.8	-	5	1049	c.666C>T	c.(664-666)ccC>ccT	p.P222P	ZDHHC11_ENST00000511539.1_Silent_p.P9P|ZDHHC11_ENST00000424784.2_Silent_p.P222P|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	222						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCGGGAACAGGGGGAGGAACA	0.592000													89	269					0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226883	24226883	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:24226883C>T	ENST00000345044.6	+	12	1606	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000398356.2_Silent_p.V453V|SLC2A11_ENST00000316185.8_Silent_p.V449V			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	446						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GTGTCTGTGTCTGTGGGGCCA	0.527000													63	83					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518570	123518570	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:123518570G>A	ENST00000422452.2	-	30	6274	c.6211C>T	c.(6211-6213)Ctt>Ttt	p.L2071F	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L2064F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TATCGGTAAAGATCTATAGGC	0.393000													43	11					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76886426	76886426	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:76886426C>T	ENST00000409709.3	+	18	2375	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	MYO7A_ENST00000458637.2_Silent_p.L701L|MYO7A_ENST00000409893.1_Silent_p.L701L|MYO7A_ENST00000409619.2_Silent_p.L690L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	701	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						AGGGCGACCTCCGCGGGACTT	0.612000													30	58					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52404140	52404140	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:52404140C>T	ENST00000420323.2	+	39	6414	c.6153C>T	c.(6151-6153)ttC>ttT	p.F2051F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2051	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATCTCCTTCGTTCGGTCCT	0.587000													14	20					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184020522	184020522	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:184020522C>T	ENST00000310118.4	+	7	1477	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.L177L|PSMD2_ENST00000435761.1_Silent_p.L148L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	307					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GTTCCTGGAGCTGAGTGAAGA	0.532000													42	55					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15851708	15851708	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:15851708G>A	ENST00000338282.6	-	13	1657	c.1551C>T	c.(1549-1551)ccC>ccT	p.P517P	MYH11_ENST00000300036.5_Silent_p.P517P|MYH11_ENST00000576790.1_Silent_p.P517P|MYH11_ENST00000452625.2_Silent_p.P524P|MYH11_ENST00000396324.3_Silent_p.P524P	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	517	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						GCTCGATGCAGGGCTGTAGGT	0.622000			T	CBFB	AML								16	26					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45535698	45535698	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:45535698G>A	ENST00000291576.7	+	7	860	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	245	Poly-Glu.					cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ggaagaggaggaggaggagga	0.642000													7	18					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35258237	35258237	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:35258237G>A	ENST00000587354.1	-	3	612	c.225C>T	c.(223-225)tcC>tcT	p.S75S	ZNF599_ENST00000588760.1_Silent_p.S75S|ZNF599_ENST00000329285.7_Silent_p.S75S			Q96NL3	ZN599_HUMAN	zinc finger protein 599	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGGTGCTTTGGGAGAGGCCTC	0.552000													38	5					0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104488272	104488272	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:104488272C>T	ENST00000369893.4	+	4	584	c.417C>T	c.(415-417)tcC>tcT	p.S139S		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	139					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ATGCGGCTTCCCCCACATCAG	0.562000													18	11					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3101041	3101041	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:3101041G>A	ENST00000355072.5	+	3	533	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	130					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)		CATCGCTATGGAACTTTTTCT	0.423000													30	33					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57100495	57100495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:57100495C>T	ENST00000436936.1	+	34	4516	c.4291C>T	c.(4291-4293)Cag>Tag	p.Q1431*	NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q1402*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q1402*|NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q1431*			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1431					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATTTCCTCGCCAGGAAGAGAA	0.637000													9	19					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487700	108487700	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:108487700G>A	ENST00000408999.3	+	20	3317	c.3240G>A	c.(3238-3240)agG>agA	p.R1080R	RGPD4_ENST00000354986.4_Silent_p.R1080R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1080	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAGAAAGGGGCTTGGGGA	0.388000													125	190					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137107	40137107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:40137107G>A	ENST00000278198.2	-	2	2699	c.736C>T	c.(736-738)Caa>Taa	p.Q246*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.Q246*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.Q246*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.Q246*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	246					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)				CACAGTTTTTGAAGGTGCATC	0.453000													21	25					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64502690	64502690	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:64502690G>A	ENST00000377494.1	-	11	2228	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RASGRP2_ENST00000394432.3_Missense_Mutation_p.R436W|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R436W|RASGRP2_ENST00000354024.3_Missense_Mutation_p.R436W			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	436	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAAAGTTCCGGAACACAGAC	0.572000													10	23					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32025933	32025933	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32025933G>A	ENST00000375244.3	-	22	7928	c.7727C>T	c.(7726-7728)aCt>aTt	p.T2576I	TNXB_ENST00000375247.2_Missense_Mutation_p.T2576I			P22105	TENX_HUMAN	tenascin XB	2636					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						GCCCCTCACAGTGACCTTGCT	0.692000													106	297					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911291	202911291	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:202911291G>A	ENST00000340990.5	-	7	1159	c.861C>T	c.(859-861)atC>atT	p.I287I	ADIPOR1_ENST00000436244.1_Silent_p.I287I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	287					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCCTCAGCGATAGTAAAGT	0.537000													31	62					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843021	4843021	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4843021C>T	ENST00000322110.5	+	1	471	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	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	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTTTGATCGTTTTGTGGC	0.463000													75	82					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725215	87725215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:87725215C>T	ENST00000305344.4	+	2	866	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	HTR1E_ENST00000369584.1_Nonsense_Mutation_p.Q55*	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	55					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GAAGCTCCACCAGCCTGCCAA	0.542000													32	37					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207457427	207457427	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:207457427C>T	ENST00000264377.3	+	22	2373	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	ADAM23_ENST00000374416.1_Missense_Mutation_p.S682F|ADAM23_ENST00000374415.3_Missense_Mutation_p.S682F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	682					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)		ATTCCAACTTCCTTCTACCAT	0.383000													18	40					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331266	42331266	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:42331266C>T	ENST00000217026.4	+	8	1215	c.1088C>T	c.(1087-1089)gCc>gTc	p.A363V	MYBL2_ENST00000396863.4_Missense_Mutation_p.A339V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	363						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCCTTCCGCCCTGGTGCCC	0.632000													59	67					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627906	26627906	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:26627906C>T	ENST00000380573.3	-	3	2184	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	ADRA1A_ENST00000276393.4_Silent_p.R387R|ADRA1A_ENST00000380586.1_Silent_p.R387R|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Silent_p.R387R|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000519229.1_Silent_p.R387R|ADRA1A_ENST00000380582.3_Silent_p.R387R			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	387				R -> G (in Ref. 9; AAK77197).	activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCTTGGAGATCCTGTAGAAGG	0.557000													43	79					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													4	61					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205990428	205990428	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:205990428C>T	ENST00000406610.2	+	10	1608	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	PARD3B_ENST00000351153.1_Silent_p.A467A|PARD3B_ENST00000358768.2_Silent_p.A467A|PARD3B_ENST00000349953.3_Silent_p.A467A|PARD3B_ENST00000462231.1_Silent_p.A467A	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	467	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGTCATTGCCCGCCAAGAAG	0.488000													29	58					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406189	9406189	+	Nonsense_Mutation	SNP	G	G	A	rs145027997	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9406189G>A	ENST00000591998.1	-	6	2119	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*	ZNF699_ENST00000308650.3_Nonsense_Mutation_p.R631*			Q32M78	ZN699_HUMAN	zinc finger protein 699	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACATGCCTTCGAAAGTAGGCA	0.423000													30	53					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41566642	41566642	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:41566642G>A	ENST00000373060.1	+	17	2469	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	FOXP4_ENST00000373063.3_Missense_Mutation_p.E658K|FOXP4_ENST00000409208.1_Missense_Mutation_p.E659K|FOXP4_ENST00000373057.3_Missense_Mutation_p.E669K|FOXP4_ENST00000307972.4_Missense_Mutation_p.E671K	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	671					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGGGACCTGGAGGAGGAGCT	0.687000													11	24					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:100235037C>T	ENST00000305046.8	-	6	836	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E217K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000													101	121					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040656	107040656	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:107040656T>A	ENST00000409886.3	-	20	3854	c.3767A>T	c.(3766-3768)gAa>gTa	p.E1256V	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1256V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1256					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAAAGCATCTTCCCTTAAATC	0.443000													92	139					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126754903	126754903	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:126754903C>T	ENST00000274473.6	+	12	1664	c.1397C>T	c.(1396-1398)cCt>cTt	p.P466L	MEGF10_ENST00000503335.2_Missense_Mutation_p.P466L|MEGF10_ENST00000418761.2_Missense_Mutation_p.P466L|MEGF10_ENST00000508365.1_Missense_Mutation_p.P466L	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	466	EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTCTGCTCTCCTGTGGACGGG	0.448000													40	56					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235955367	235955367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:235955367G>T	ENST00000389794.3	-	12	4349	c.4175C>A	c.(4174-4176)tCa>tAa	p.S1392*	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Nonsense_Mutation_p.S1392*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1392					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAGATACTGTGAAGGGCTCAT	0.348000													37	57					1.60099e-16	1.62196e-16	1	1	0
ZNF619	285267	broad.mit.edu	37	3	40529675	40529675	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:40529675C>T	ENST00000447116.2	+	6	2101	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	ZNF619_ENST00000429348.2_Silent_p.L558L|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Silent_p.L558L|ZNF619_ENST00000521353.1_Silent_p.L598L|ZNF619_ENST00000522736.1_Silent_p.L549L|ZNF619_ENST00000314686.5_Silent_p.L542L|ZNF619_ENST00000456778.1_Silent_p.L514L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	598					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTCAGGATCTCGCTTTTCCTG	0.498000													38	55					0	0	1	0	0
SLC16A8	23539	broad.mit.edu	37	22	38478710	38478710	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38478710C>T	ENST00000320521.5	-	2	279	c.171G>A	c.(169-171)acG>acA	p.T57T	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	57					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	ACACCCAGGCCGTGTCGCTGT	0.682000													5	4					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207414845	207414845	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:207414845G>A	ENST00000264377.3	+	9	1222	c.894G>A	c.(892-894)atG>atA	p.M298I	ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I|ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	298					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)		TTGAAGAAATGAAATATTTGG	0.303000													11	22					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1444012	1444012	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:1444012G>A	ENST00000446702.2	+	22	3455	c.2828G>A	c.(2827-2829)cGg>cAg	p.R943Q	CNTN6_ENST00000539053.1_Missense_Mutation_p.R871Q|CNTN6_ENST00000350110.2_Missense_Mutation_p.R943Q			Q9UQ52	CNTN6_HUMAN	contactin 6	943	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTCTGTACCGGCAAAACAGA	0.348000													12	23					0	0	1	0	0
TEX40	25858	broad.mit.edu	37	11	64070988	64070988	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:64070988G>A	ENST00000539943.1	+	2	577	c.261G>A	c.(259-261)gcG>gcA	p.A87A	TEX40_ENST00000328404.6_Silent_p.A129A|RP11-783K16.10_ENST00000539086.1_RNA					testis expressed 40																		TCAATATTGCGAAGCACATGC	0.552000													14	12					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23929948	23929948	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:23929948T>A	ENST00000379211.3	+	3	740	c.191T>A	c.(190-192)cTc>cAc	p.L64H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	64										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ATATTTCGACTCCTAAAACAC	0.303000													44	36					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272986	233272986	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:233272986G>A	ENST00000295453.3	+	6	710	c.658G>A	c.(658-660)Ggt>Agt	p.G220S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	220					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGTGATCCTAGGTGGAGGCCG	0.622000													33	59					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108751625	108751625	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:108751625C>T	ENST00000232603.5	-	16	1589	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	MORC1_ENST00000483760.1_Missense_Mutation_p.E503K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	503					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCTTTTTCCTGATAATTA	0.289000													12	24					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869964	4869964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4869964G>A	ENST00000322101.2	-	1	550	c.475C>T	c.(475-477)Cga>Tga	p.R159*	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	159					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)		CCCAGGCATCGAAAAGAAATG	0.542000													48	54					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33364754	33364754	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:33364754C>T	ENST00000379540.3	+	21	3083	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	NFX1_ENST00000379521.4_Silent_p.L1007L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1007	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGGAAACCCTCGTGGAGGCCG	0.428000													18	2					0	0	1	0	0
SMR3B	10879	broad.mit.edu	37	4	71255479	71255479	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:71255479C>T	ENST00000304915.3	+	3	303	c.154C>T	c.(154-156)Cca>Tca	p.P52S	SMR3B_ENST00000504825.1_Missense_Mutation_p.P52S	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				ACCTCCTCCTCCACCCTATGG	0.602000													24	48					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375292	101375292	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:101375292G>A	ENST00000344327.3	-	2	832	c.408C>T	c.(406-408)gcC>gcT	p.A136A	TRPC6_ENST00000532133.1_Silent_p.A136A|TRPC6_ENST00000360497.4_Silent_p.A136A|TRPC6_ENST00000348423.4_Silent_p.A136A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	136					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCAACTGTAGGGCATTCTGGC	0.453000													37	27					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480865	20480865	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:20480865G>A	ENST00000573854.1	+	4	534	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2A_ENST00000396104.2_Missense_Mutation_p.M140I|ACSM2A_ENST00000575690.1_Missense_Mutation_p.M140I|ACSM2A_ENST00000219054.6_Missense_Mutation_p.M140I|ACSM2A_ENST00000417235.2_Missense_Mutation_p.M61I|ACSM2A_ENST00000424070.1_Missense_Mutation_p.M140I|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	140					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCATCCAGATGAAATCCACTG	0.423000													16	37					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657526	1657526	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:1657526G>A	ENST00000324015.3	+	10	1251	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	SERPINF2_ENST00000382061.4_Missense_Mutation_p.E392K|SERPINF2_ENST00000450523.2_Missense_Mutation_p.E328K	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	392					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGTCGGCGTGGAGGCGGCGGC	0.652000													41	69					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231106164	231106164	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:231106164T>G	ENST00000392045.3	+	4	566	c.452T>G	c.(451-453)tTa>tGa	p.L151*	SP140_ENST00000350136.5_Nonsense_Mutation_p.L131*|SP140_ENST00000486687.2_Nonsense_Mutation_p.L151*|SP140_ENST00000343805.6_Nonsense_Mutation_p.L151*|SP140_ENST00000417495.3_Nonsense_Mutation_p.L151*|SP140_ENST00000420434.3_Nonsense_Mutation_p.L151*	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	151					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTAAACGATTTAGAAGATAGA	0.383000													9	15					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169176921	169176921	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:169176921G>A	ENST00000393743.3	-	26	3789	c.3498C>T	c.(3496-3498)gcC>gcT	p.A1166A	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1166							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCATGACATGGGCTTCTTTAT	0.363000													22	28					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25481089	25481089	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:25481089C>T	ENST00000381884.4	-	7	1272	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	CENPJ_ENST00000545981.1_Missense_Mutation_p.G363R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	363					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGCAATGGTCCTTCTGCTTCC	0.284000													16	10					0	0	1	0	0
FAM26F	441168	broad.mit.edu	37	6	116784702	116784702	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:116784702C>T	ENST00000368605.1	+	3	877	c.782C>T	c.(781-783)tCa>tTa	p.S261L	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.S89L	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	261						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CAGCAAATTTCATCACTGTAT	0.393000													53	79					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656706	46656706	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:46656706G>A	ENST00000544460.1	+	1	1095	c.841G>A	c.(841-843)Gag>Aag	p.E281K	TDRD6_ENST00000316081.6_Missense_Mutation_p.E281K	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	281					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCGCCTCTCCGAGAGCATGGC	0.647000													9	17					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	896668	896668	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:896668C>T	ENST00000381922.3	-	1	292	c.190G>A	c.(190-192)Gac>Aac	p.D64N	ANGPT4_ENST00000546022.1_Missense_Mutation_p.D64N	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	64					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTGTTGGAGTCCCTGGAGACC	0.607000													43	50					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73987670	73987670	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:73987670C>T	ENST00000553558.1	-	4	1276	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	HEATR4_ENST00000560393.1_Missense_Mutation_p.E272K|HEATR4_ENST00000334988.2_Missense_Mutation_p.E319K	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTCGTCTTTTCATGGATATCC	0.517000													29	38					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40322138	40322138	+	Silent	SNP	C	C	T	rs146054199		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:40322138C>T	ENST00000264661.3	-	8	1709	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	KCNH4_ENST00000607371.1_Silent_p.T459T	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	459					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTATGAGCATCGTGCAGATGG	0.602000													21	38					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039759	248039759	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:248039759C>T	ENST00000366481.3	+	6	1477	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	477						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)			TCATTTAGATCCTGCTTCTGA	0.448000													33	26					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37403511	37403511	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:37403511C>T	ENST00000373451.4	+	2	270	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		36					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TGATGAACCTCCCTCCTCTGT	0.512000													15	45					0	0	1	0	0
C9orf163	158055	broad.mit.edu	37	9	139379478	139379478	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:139379478C>T	ENST00000354376.1	+	1	1532	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	193							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		CTAGGGTCCTCCGAAACCCTG	0.602000											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	4					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288188	33288188	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:33288188T>A	ENST00000374542.5	-	4	1424	c.1220A>T	c.(1219-1221)gAc>gTc	p.D407V	DAXX_ENST00000414083.2_Missense_Mutation_p.D332V|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.D407V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	407	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTCGGGGGTGTCTGCAGAGTG	0.547000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								31	92					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000172	3000172	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:3000172A>T	ENST00000520002.1	-	42	6614	c.6059T>A	c.(6058-6060)tTt>tAt	p.F2020Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.F2020Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.F2020Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.F2020Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.F2019Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.F2019Y|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.F2019Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2020	CUB 12.					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)		TTCGGTAGAAAAATTCAGAAA	0.393000													52	64					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127657	152127657	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:152127657C>T	ENST00000316073.3	-	3	1982	c.1918G>A	c.(1918-1920)Gac>Aac	p.D640N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	640	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCTGTGAGTCCCTAGACTGG	0.493000													48	111					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655701	46655701	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:46655701C>T	ENST00000253255.5	-	1	3518	c.3519G>A	c.(3517-3519)cgG>cgA	p.R1173R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1173					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGATGTTTAACCGTAGATCCA	0.488000													39	76					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21399878	21399878	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:21399878G>A	ENST00000313654.9	+	19	2462	c.2221G>A	c.(2221-2223)Ggg>Agg	p.G741R	LAMA3_ENST00000399516.3_Missense_Mutation_p.G741R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	741					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)	CACACCTAATGGGAGAGACCT	0.423000													13	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074082	9074082	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9074082G>A	ENST00000397910.4	-	3	13567	c.13364C>T	c.(13363-13365)tCc>tTc	p.S4455F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4457	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						AGGTGTCAGGGAAGAGGGATA	0.493000													74	10					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784649	30784649	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:30784649A>T	ENST00000246229.4	-	3	1361	c.1097T>A	c.(1096-1098)cTt>cAt	p.L366H		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTTCCAGGAAGCTCCGCCAG	0.582000													16	26					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668454	176668454	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:176668454G>A	ENST00000367662.3	+	8	4129	c.2965G>A	c.(2965-2967)Gaa>Aaa	p.E989K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	989					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GATCTTGCTGGAAAACAAGGA	0.552000													67	191					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196311220	196311220	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196311220A>G	ENST00000367433.5	-	15	1643	c.1542T>C	c.(1540-1542)caT>caC	p.H514H	KCNT2_ENST00000451324.2_Silent_p.H125H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.H514H|KCNT2_ENST00000367431.4_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	514	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTTGTGTGCATGGAAAGAGG	0.333000													33	20					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129778548	129778548	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:129778548C>T	ENST00000226319.6	+	8	1200	c.920C>T	c.(919-921)cCc>cTc	p.P307L	PHF17_ENST00000452328.2_Missense_Mutation_p.P295L|PHF17_ENST00000512960.1_Missense_Mutation_p.P307L|PHF17_ENST00000511647.1_Missense_Mutation_p.P307L|PHF17_ENST00000413543.2_Missense_Mutation_p.P307L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		307					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCACACATTCCCAGCAGCCGG	0.517000													67	120					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103516075	103516075	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:103516075C>T	ENST00000226574.4	+	13	1704	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	NFKB1_ENST00000394820.4_Missense_Mutation_p.P412S|NFKB1_ENST00000505458.1_Missense_Mutation_p.P412S|NFKB1_ENST00000600343.1_Missense_Mutation_p.P232S	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	412	Gly-rich.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTATGGATTTCCTACTTATGG	0.373000													14	16					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215279072	215279072	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:215279072G>A	ENST00000312504.5	+	2	957	c.155G>A	c.(154-156)gGg>gAg	p.G52E	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.G52E	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	52	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CGAGGGAAAGGGTGTGTCGAT	0.473000													9	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446723	179446723	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179446723C>T	ENST00000589042.1	-	315	66597	c.66373G>A	c.(66373-66375)Gaa>Aaa	p.E22125K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13252K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13185K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19557K|TTN_ENST00000460472.2_Missense_Mutation_p.E13060K|TTN_ENST00000591111.1_Missense_Mutation_p.E20484K|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20484	Fibronectin type-III 60.						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)			AACTCATATTCGGTACCTTCT	0.453000													36	67					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873725	189873725	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:189873725G>A	ENST00000304636.3	+	48	3771	c.3601G>A	c.(3601-3603)Gga>Aga	p.G1201R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G898R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1201	Nonhelical region (C-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTGGTGTTGGAGCCGCTGC	0.542000													22	31					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145914451	145914451	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:145914451T>C	ENST00000354952.2	-	7	994	c.754A>G	c.(754-756)Acc>Gcc	p.T252A	PLSCR4_ENST00000446574.2_Missense_Mutation_p.T252A|PLSCR4_ENST00000383083.2_Missense_Mutation_p.T162A|PLSCR4_ENST00000493382.1_Missense_Mutation_p.T252A|PLSCR4_ENST00000433593.2_Missense_Mutation_p.T147A	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	252					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAGCCATAGGTTGAGCATGGC	0.408000													24	33					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44672663	44672663	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:44672663C>G	ENST00000396058.1	+	2	667	c.500C>G	c.(499-501)cCg>cGg	p.P167R	ZNF197_ENST00000383744.4_Missense_Mutation_p.P167R|ZNF197_ENST00000383745.2_Missense_Mutation_p.P167R|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.P167R			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													34	42					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390626	158390626	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158390626C>T	ENST00000314902.2	-	1	30	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AAGATGACCTCTCTCACCACA	0.502000													40	21					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099230	169099230	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:169099230G>A	ENST00000494292.1	-	2	217	c.120C>T	c.(118-120)tcC>tcT	p.S40S	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	40							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAATATTGAGGGAGGGAGTGC	0.453000													23	28					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149821	202149821	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:202149821G>A	ENST00000358485.4	+	8	1458	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.G278E|CASP8_ENST00000264275.5_Missense_Mutation_p.G379E|CASP8_ENST00000323492.7_Missense_Mutation_p.G347E|CASP8_ENST00000432109.2_Missense_Mutation_p.G362E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	362					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTTGTCAGGGGGATAACTAC	0.448000										HNSCC(4;0.00038)			29	53					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86050686	86050686	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:86050686G>A	ENST00000414626.2	+	16	3645	c.2756G>A	c.(2755-2757)aGa>aAa	p.R919K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R939K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	939					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGCGGAAAGAGACAAAAGT	0.323000													21	48					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505847	128505847	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:128505847G>A	ENST00000368227.3	-	7	1258	c.892C>T	c.(892-894)Cct>Tct	p.P298S	PTPRK_ENST00000368215.3_Missense_Mutation_p.P298S|PTPRK_ENST00000368213.5_Missense_Mutation_p.P298S|PTPRK_ENST00000368226.4_Missense_Mutation_p.P298S|PTPRK_ENST00000532331.1_Missense_Mutation_p.P298S|PTPRK_ENST00000368207.3_Missense_Mutation_p.P298S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P298S|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	298	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGAAGCTGAGGAGGAGCAATG	0.413000													25	41					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955603	55955603	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:55955603T>G	ENST00000263923.4	-	25	3637	c.3342A>C	c.(3340-3342)gaA>gaC	p.E1114D	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1114	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCCTACAAAATTCTTCATCAA	0.378000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			16	20					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412356	14412356	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:14412356C>T	ENST00000382080.1	-	2	834	c.119G>A	c.(118-120)gGa>gAa	p.G40E	SGCZ_ENST00000421524.2_Missense_Mutation_p.G27E	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	27					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCATAAATTCCCACTGGGTA	0.383000													49	67					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394530	154394530	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:154394530G>A	ENST00000435029.4	+	1	1271	c.1111G>A	c.(1111-1113)Ggt>Agt	p.G371S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	371					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCCCATGGAGGTACCCTGCC	0.418000													58	60					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120925126	120925126	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:120925126C>T	ENST00000355697.2	-	1	53	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.G12R	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	12					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AGGAGCCGCCCAGGTTGCGTT	0.706000													28	2					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883106	228883106	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:228883106C>T	ENST00000392056.3	-	7	2510	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D822N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	822						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTGAAGAATCGGGCACTCTG	0.468000													41	53					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284811	19284811	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:19284811C>T	ENST00000308406.5	+	4	1675	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	MAPK7_ENST00000299612.7_Missense_Mutation_p.A291V|MAPK7_ENST00000395604.3_Missense_Mutation_p.A430V|MAPK7_ENST00000395602.4_Missense_Mutation_p.A430V|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	430	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGGGACTGTGCCATGGAGTCT	0.627000													27	41					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69459767	69459767	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:69459767G>A	ENST00000374521.3	+	6	856	c.815G>A	c.(814-816)aGg>aAg	p.R272K		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	272					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCATACTCCAGGCCTATTGTC	0.547000													23	3					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143928018	143928018	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:143928018A>T	ENST00000220940.1	+	4	479	c.389A>T	c.(388-390)gAg>gTg	p.E130V		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	130	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTAACTGAGGAGGAGCTTCCA	0.448000													13	31					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466767	10466767	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:10466767C>T	ENST00000382483.3	-	4	5064	c.4841G>A	c.(4840-4842)cGa>cAa	p.R1614Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1614					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)		CGAGAGGTTTCGCAGGCCCCG	0.711000													9	16					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31313487	31313487	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:31313487C>T	ENST00000265071.2	+	8	1581	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L	CDH6_ENST00000514738.1_Missense_Mutation_p.S384L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	439	Cadherin 4.				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						GGAAATGGTTCGATTTTTACA	0.393000													31	44					0	0	1	0	0
MDFIC	29969	broad.mit.edu	37	7	114619749	114619749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:114619749C>T	ENST00000393486.1	+	4	996	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.Q245*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	136					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TAGAAAAATTCAGTCCAGCTT	0.418000													18	39					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16085827	16085827	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:16085827C>T	ENST00000281043.3	+	3	1300	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	335					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTATGCCGCCCCCTCTCCCTA	0.612000			A		neuroblastoma								11	16					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436048	158436048	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158436048G>A	ENST00000289451.2	+	1	777	c.697G>A	c.(697-699)Gga>Aga	p.G233R		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	233					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)					TTCCTCCGTTGGAAGATACAA	0.443000													65	45					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	T	A	rs121913255		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:115256528T>A	ENST00000369535.4	-	3	436	c.183A>T	c.(181-183)caA>caT	p.Q61H		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61H(100)|p.Q61Q(3)|p.Q61L(3)|p.Q61R(2)|p.Q61K(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			109	10					0	0	1	0	0
TLX3	30012	broad.mit.edu	37	5	170736421	170736421	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:170736421T>C	ENST00000296921.5	+	1	134	c.52T>C	c.(52-54)Ttc>Ctc	p.F18L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCCATCAGCTTCGGCATCGA	0.781000			T	BCL11B	T-ALL								6	7					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484458	60484458	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:60484458G>A	ENST00000450662.2	+	10	979	c.908G>A	c.(907-909)gGg>gAg	p.G303E	EFCAB3_ENST00000305286.3_Missense_Mutation_p.G251E	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	251							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AATGTGGATGGGGTGGTGATG	0.358000													30	37					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959148	25959148	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:25959148G>T	ENST00000356865.6	-	10	2128	c.2017C>A	c.(2017-2019)Cag>Aag	p.Q673K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	673					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			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)		TTGTCCGCCTGGCTGCTGTAG	0.682000													20	43					1.56452e-12	1.57958e-12	1	1	0
SLC30A8	169026	broad.mit.edu	37	8	118159376	118159376	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:118159376G>A	ENST00000427715.2	+	5	542	c.108G>A	c.(106-108)atG>atA	p.M36I	SLC30A8_ENST00000456015.2_Missense_Mutation_p.M85I|SLC30A8_ENST00000519688.1_Missense_Mutation_p.M36I|SLC30A8_ENST00000521243.1_Missense_Mutation_p.M36I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	85					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCATTTTCATGATTGCAGAGG	0.438000													70	107					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178203	223178203	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:223178203C>T	ENST00000284476.6	+	8	3628	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1155					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTGCCTTTTCCCATGCCTTG	0.473000													448	295					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821280	151821280	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151821280C>T	ENST00000370306.2	+	9	1455	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	479						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTTTTCCTACCGAAAT	0.542000													57	18					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335629	141335629	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:141335629A>G	ENST00000231484.3	-	1	2998	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	596					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCAAGCCATTGGGAGTCT	0.612000													27	26					0	0	1	0	0
RPL7L1	285855	broad.mit.edu	37	6	42852397	42852397	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:42852397C>T	ENST00000493763.1	+	4	634	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	RPL7L1_ENST00000602561.1_Missense_Mutation_p.R111C|RPL7L1_ENST00000424341.2_Missense_Mutation_p.R111C|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Missense_Mutation_p.R111C	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	111					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TGCAAGACTTCGCCTAAAGAA	0.443000													22	67					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186332546	186332546	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:186332546T>C	ENST00000367478.3	-	5	755	c.459A>G	c.(457-459)aaA>aaG	p.K153K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	153					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)		TATTGCTTTCTTTAAGTTTTT	0.313000			T	NTRK1	papillary thyroid								34	21					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195299	3195299	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:3195299G>A	ENST00000323404.1	-	1	577	c.578C>T	c.(577-579)tCc>tTc	p.S193F	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTGGGTGCTGGAGCAGGAGAG	0.527000													45	71					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280472	117280472	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:117280472C>T	ENST00000278935.3	+	30	4034	c.3887C>T	c.(3886-3888)tCc>tTc	p.S1296F	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1296					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTCCTCGCCTCCATGCCAGCC	0.657000													50	19					0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243985	88243985	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:88243985G>A	ENST00000328546.4	-	1	73	c.9C>T	c.(7-9)atC>atT	p.I3I	HSD17B13_ENST00000302219.6_Silent_p.I3I|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	3						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTCTAGGATGATGTTCATGG	0.488000													8	13					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1647275	1647275	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:1647275T>C	ENST00000252804.4	-	19	3867	c.3817A>G	c.(3817-3819)Atc>Gtc	p.I1273V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1273					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)		TCGCATAGGATCCTGGCCAGC	0.602000													4	29					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491146	58491146	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:58491146A>G	ENST00000341164.4	-	7	1522	c.902T>C	c.(901-903)aTa>aCa	p.I301T	ZNF606_ENST00000536132.1_Missense_Mutation_p.I211T	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAAATGTATTATATGATTGAA	0.313000													74	5					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35604866	35604866	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:35604866C>T	ENST00000542713.1	-	3	332	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FKBP5_ENST00000539068.1_Missense_Mutation_p.G59R|FKBP5_ENST00000357266.4_Missense_Mutation_p.G59R|FKBP5_ENST00000536438.1_Missense_Mutation_p.G59R|FKBP5_ENST00000540787.1_Intron	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	59	PPIase FKBP-type 1.				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						GACAATTTTCCTTTGTAATGG	0.358000													7	38					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968801	5968801	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5968801C>T	ENST00000329564.6	+	1	232	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGACATCGTGCTCTGCC	0.592000													55	77					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128626	126128626	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:126128626C>T	ENST00000299308.3	+	6	1435	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	476						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCAAAGGTTTCCAACAACTGT	0.443000													21	34					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29632621	29632621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:29632621C>T	ENST00000278882.3	+	8	816	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.Q146*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAAGAAATTTCAGAGCTTCCA	0.289000													6	350					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226687	158226687	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158226687G>A	ENST00000289429.5	+	4	1249	c.716G>A	c.(715-717)cGg>cAg	p.R239Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	239	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ATGTGGATGCGGGGTGAGCAG	0.642000													24	77					0	0	1	0	0
C9orf163	158055	broad.mit.edu	37	9	139379479	139379479	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:139379479C>T	ENST00000354376.1	+	1	1533	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	193							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		TAGGGTCCTCCGAAACCCTGT	0.607000											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	5					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73659055	73659055	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:73659055G>A	ENST00000420326.2	-	4	434	c.275C>T	c.(274-276)aCc>aTc	p.T92I	RECQL5_ENST00000584999.1_Missense_Mutation_p.T92I|RECQL5_ENST00000423245.2_Missense_Mutation_p.T65I|RECQL5_ENST00000340830.5_Missense_Mutation_p.T92I|RECQL5_ENST00000317905.5_Missense_Mutation_p.T92I	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	92	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TACCTTTAGGGTTAGCAAGTG	0.512000								Other identified genes with known or suspected DNA repair function					66	82					0	0	1	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529445	55529445	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:55529445C>T	ENST00000395468.3	+	3	305	c.128C>T	c.(127-129)cCg>cTg	p.P43L	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	43	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						TGGAATAATCCGAGTGCTCCA	0.552000													21	24					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288714	33288714	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:33288714G>A	ENST00000374542.5	-	3	1042	c.838C>T	c.(838-840)Cct>Tct	p.P280S	DAXX_ENST00000414083.2_Missense_Mutation_p.P205S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.P280S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	280					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AAGGTATCAGGCCCTGGCTTG	0.617000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								33	75					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901701	37901701	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:37901701G>A	ENST00000309156.4	+	11	1376	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	GRB7_ENST00000394211.3_Silent_p.V373V|GRB7_ENST00000394204.1_Silent_p.V373V|GRB7_ENST00000309185.3_Silent_p.V373V|GRB7_ENST00000445327.2_Silent_p.V396V|GRB7_ENST00000394209.2_Silent_p.V373V	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	373					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATACCCTGGTGGCCATGGACT	0.622000													26	27					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66612856	66612856	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:66612856G>A	ENST00000379500.2	+	4	880	c.813G>A	c.(811-813)aaG>aaA	p.K271K	CMTM1_ENST00000528324.1_3'UTR|CMTM1_ENST00000328020.6_3'UTR|CKLF-CMTM1_ENST00000527729.1_Silent_p.K100K|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000332695.7_Silent_p.K107K|CMTM1_ENST00000533953.1_Silent_p.K223K|CMTM1_ENST00000457188.2_Silent_p.K154K|CMTM1_ENST00000336328.6_Silent_p.K101K	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	154					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CCCCCGCCAAGGACGCCTACC	0.612000													27	28					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829092	67829092	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:67829092G>A	ENST00000433211.1	-	15	2307	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	CTNNA3_ENST00000373744.4_Silent_p.I711I|CTNNA3_ENST00000373735.1_Silent_p.I50I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	711					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTCCATCATGATCATACACA	0.358000													40	21					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994128	140994128	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:140994128C>T	ENST00000285879.4	+	4	1224	c.938C>T	c.(937-939)tCc>tTc	p.S313F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	313							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCCACTTTATTG	0.483000										HNSCC(15;0.026)			96	39					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890860	207890860	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:207890860C>T	ENST00000508064.2	+	11	1526	c.1466C>T	c.(1465-1467)aCt>aTt	p.T489I		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	489	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CACACAGGAACTCCCCTTGGA	0.428000													29	65					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20706381	20706381	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:20706381G>A	ENST00000406935.1	+	6	918		c.e6-1		ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000258738.6_Intron	NM_001163993.1	NP_001157465.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTATTTTCTAGAAAAAATAAT	0.328000													7	15					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369871	123369871	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:123369871G>A	ENST00000275162.4	+	4	2004	c.669G>A	c.(667-669)cgG>cgA	p.R223R	CLVS2_ENST00000368438.1_Silent_p.R77R	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGAAAACTCGGAAAAGGGTAT	0.378000													39	61					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791175	81791175	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:81791175C>T	ENST00000358105.3	+	4	411	c.362C>T	c.(361-363)tCt>tTt	p.S121F	C4orf22_ENST00000508675.1_Missense_Mutation_p.S138F	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	121										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GACAGAAATTCTCATGGGCAA	0.373000													40	34					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424778	91424778	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:91424778C>T	ENST00000268171.3	+	16	2334	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	685	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCCGAGAGTCCCCGCCACAGC	0.721000													61	110					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404718	53404718	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:53404718C>T	ENST00000565421.1	-	0	323																											AAGAATTTCTCGTCTATTATG	0.383000													8	7					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13427337	13427337	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:13427337A>G	ENST00000278174.5	-	7	1120	c.875T>C	c.(874-876)aTg>aCg	p.M292T	BTBD10_ENST00000530907.1_Missense_Mutation_p.M300T|BTBD10_ENST00000528120.1_Missense_Mutation_p.M244T	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	292						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGGGAGGATCATTTCTTCCAG	0.398000													31	47					0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44455654	44455654	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:44455654T>C	ENST00000441843.1	+	2	1018	c.533T>C	c.(532-534)tTa>tCa	p.L178S	LACC1_ENST00000325686.6_Missense_Mutation_p.L178S	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	178																	AGAGGAAAATTAACTATTATC	0.348000													32	22					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17983152	17983152	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:17983152C>T	ENST00000361221.3	+	25	2968	c.2809C>T	c.(2809-2811)Ctg>Ttg	p.L937L	ARHGEF10L_ENST00000375415.1_Silent_p.L898L|ARHGEF10L_ENST00000375408.3_Silent_p.L710L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.L898L|ARHGEF10L_ENST00000167825.4_Silent_p.L640L|ARHGEF10L_ENST00000434513.1_Silent_p.L932L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	937					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCCCTTCCACCTGCTCGCTGG	0.662000													18	27					0	0	1	0	0
CCDC12	151903	broad.mit.edu	37	3	46964839	46964839	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:46964839G>A	ENST00000425441.1	-	7	585	c.360C>T	c.(358-360)ctC>ctT	p.L120L	CCDC12_ENST00000546280.1_Silent_p.L107L|CCDC12_ENST00000292314.2_Silent_p.L120L|CCDC12_ENST00000605358.1_5'UTR	NM_001277074.1	NP_001264003.1	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	107										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		TCCGAGGAGCGAGGTTGGCCA	0.667000											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	12					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928651	10928651	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:10928651C>T	ENST00000283141.6	+	18	1752	c.1456C>T	c.(1456-1458)Ccg>Tcg	p.P486S	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	486						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)			gccggtccctccgttcggggt	0.473000													12	44					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167185017	167185017	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:167185017C>T	ENST00000476257.1	-	4	602	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	SERPINI2_ENST00000471111.1_Missense_Mutation_p.E102K|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E102K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E102K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	102					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AATGTAAATTCTTGTTTTTTC	0.328000													11	23					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177697355	177697355	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:177697355C>T	ENST00000390654.3	-	6	808	c.451G>A	c.(451-453)Ggt>Agt	p.G151S	COL23A1_ENST00000407622.1_Missense_Mutation_p.G115S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	151	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCATCCAAACCCAGGGGTCCC	0.577000													4	15					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92983035	92983035	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:92983035G>A	ENST00000523629.1	-	11	1844	c.1390C>T	c.(1390-1392)Ctg>Ttg	p.L464L	RUNX1T1_ENST00000518844.1_Silent_p.L437L|RUNX1T1_ENST00000436581.2_Silent_p.L475L|RUNX1T1_ENST00000396218.1_Silent_p.L437L|RUNX1T1_ENST00000360348.2_Silent_p.L427L|RUNX1T1_ENST00000265814.3_Silent_p.L464L|RUNX1T1_ENST00000520724.1_Silent_p.L427L|RUNX1T1_ENST00000422361.2_Silent_p.L427L	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)	464					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)			GCCTTCTGCAGCTCCGTCATC	0.597000													16	18					0	0	1	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47612180	47612180	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:47612180G>A	ENST00000302514.3	-	2	699	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	61	C1q 1.					extracellular region		p.F61L(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TGGCCACATCGAAGTCGCCCC	0.672000													8	9					0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	411013	411013	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:411013G>A	ENST00000356286.5	+	12	2177	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E	RBCK1_ENST00000353660.3_Missense_Mutation_p.G449E|RBCK1_ENST00000382181.2_Missense_Mutation_p.G321E	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	491					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GACACCAGCGGGGGCTGCCGC	0.632000													13	25					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173535	51173535	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:51173535C>T	ENST00000440970.1	-	2	2738	c.2307G>A	c.(2305-2307)ttG>ttA	p.L769L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.L866L|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	866					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)			TCTGATTTTCCAAAGCAGCGA	0.552000													23	30					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101452	168101452	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:168101452G>A	ENST00000409195.1	+	9	3639	c.3550G>A	c.(3550-3552)Gaa>Aaa	p.E1184K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1184K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E962K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1009					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						AGAAGTGAAGGAAATCAAGCC	0.378000													14	25					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120387737	120387737	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:120387737G>A	ENST00000331113.4	+	6	2683	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	573					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCTATCAGCCGATCCAGTTTA	0.303000													12	14					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002735	193002735	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:193002735C>T	ENST00000342358.4	-	27	3311	c.3194G>A	c.(3193-3195)gGa>gAa	p.G1065E	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1065					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAATGGCTTTCCCTTAGAAAA	0.368000													16	17					0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50296138	50296138	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:50296138G>A	ENST00000261667.3	-	9	1093	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	227	NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TTCCTGCAGAGATTGACAATG	0.458000													31	87					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7868072	7868072	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:7868072C>T	ENST00000264669.5	-	2	261	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	42					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAACCAAGGGCACAGACGCTC	0.403000													30	53					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853716	122853716	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:122853716C>T	ENST00000264811.5	-	1	896	c.478G>A	c.(478-480)Gac>Aac	p.D160N	TRPC3_ENST00000513531.1_Missense_Mutation_p.D160N|TRPC3_ENST00000379645.3_Missense_Mutation_p.D233N	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	148					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGGTGATGTCCGGCGAGAAG	0.617000													24	27					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072502	125072502	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:125072502C>T	ENST00000522917.1	+	23	3162	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R986W|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	986						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGCCAACATTCGGCCGGTGCT	0.587000													36	30					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991358	72991358	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:72991358G>A	ENST00000268489.5	-	2	3359	c.2687C>T	c.(2686-2688)gCc>gTc	p.A896V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	896					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CATGGGCCCGGCGGGATCCAG	0.547000													42	64					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617849	100617849	+	Missense_Mutation	SNP	C	C	T	rs140607831		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:100617849C>T	ENST00000267294.4	-	2	2007	c.1774G>A	c.(1774-1776)Ggg>Agg	p.G592R		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	592					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGGAGTCCCCACTGATGAG	0.582000													56	113					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374144	23374144	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:23374144A>G	ENST00000359890.3	-	9	999	c.804T>C	c.(802-804)ggT>ggC	p.G268G	RBM23_ENST00000399922.2_Silent_p.G252G|RBM23_ENST00000346528.5_Silent_p.G234G|RBM23_ENST00000542016.2_Silent_p.G98G|RBM23_ENST00000555209.1_Silent_p.G18G	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	268	RRM 2.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		AGTGCAGGGAACCCACATAGA	0.512000													68	87					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5463109	5463109	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:5463109A>T	ENST00000345221.3	-	4	1461	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	NLRP1_ENST00000354411.3_Missense_Mutation_p.Y303N|NLRP1_ENST00000269280.4_Missense_Mutation_p.Y303N|NLRP1_ENST00000262467.5_Missense_Mutation_p.Y303N|NLRP1_ENST00000577119.1_Missense_Mutation_p.Y303N|NLRP1_ENST00000572272.1_Missense_Mutation_p.Y303N|NLRP1_ENST00000571307.1_5'UTR	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	303					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)				TCCTCCACATAATCAGGCCAG	0.473000													105	115					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196395036	196395036	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196395036C>T	ENST00000367433.5	-	11	1168	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R356Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.R356Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	356						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAGATAACTCGTTGGGACCA	0.413000													33	22					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42054441	42054441	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:42054441C>T	ENST00000219905.7	+	22	7806	c.7625C>T	c.(7624-7626)cCc>cTc	p.P2542L	MGA_ENST00000566586.1_Missense_Mutation_p.P2333L|MGA_ENST00000389936.4_Missense_Mutation_p.P2503L|MGA_ENST00000545763.1_Missense_Mutation_p.P2333L|MGA_ENST00000570161.1_Missense_Mutation_p.P2542L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2503						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GACATATCTCCCAGAATTAGC	0.393000													58	33					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106761704	106761704	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:106761704G>A	ENST00000283148.7	-	6	511	c.414C>T	c.(412-414)atC>atT	p.I138I	UXS1_ENST00000409501.3_Silent_p.I133I|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000540130.1_Silent_p.I76I	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	133					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TCTCATGTCCGATCCAGTGCT	0.517000													9	30					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065405	9065405	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9065405G>A	ENST00000397910.4	-	3	22244	c.22041C>T	c.(22039-22041)acC>acT	p.T7347T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7349	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						AGGAGGGAGTGGTTGATGTGT	0.488000													59	9					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643259	156643259	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:156643259C>T	ENST00000296518.7	+	9	1995	c.1786C>T	c.(1786-1788)Ctt>Ttt	p.L596F	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.L596F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.L596F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.L596F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.L596F|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.L596F|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.L338F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	596	Guanylate cyclase.				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)		CCGTTACTGTCTTTTTGGAAA	0.408000													41	77					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141418	29141418	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:29141418G>A	ENST00000377167.2	+	1	108	c.6G>A	c.(4-6)atG>atA	p.M2I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	2					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						GATGAATGATGATTAAAAAAA	0.348000													22	87					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975895	76975895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:76975895G>A	ENST00000409911.1	-	3	1925	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.R567*|LRRTM4_ENST00000409093.1_Nonsense_Mutation_p.R567*	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	567						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)		CTGTGGTCTCGGCCCAGCTCC	0.602000													50	53					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412372	126412372	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:126412372C>T	ENST00000394329.3	+	17	14408	c.14395C>T	c.(14395-14397)Cgc>Tgc	p.R4799C	FAT4_ENST00000335110.5_Missense_Mutation_p.R3040C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4799					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						CAACACACCTCGCCCTAGAAA	0.532000													38	46					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17609198	17609198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:17609198C>T	ENST00000226299.4	+	13	1820	c.1546C>T	c.(1546-1548)Caa>Taa	p.Q516*	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Nonsense_Mutation_p.Q485*	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	516					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TCGTTTCAGTCAAGACAATGC	0.388000													20	24					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626277	12626277	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:12626277G>A	ENST00000425538.1	+	5	567	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MYOCD_ENST00000343344.4_Missense_Mutation_p.E123K|MYOCD_ENST00000395988.1_Missense_Mutation_p.E27K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	123					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)		GGAGCTGGTGGAAAAAAACAT	0.473000													49	61					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825176	4825176	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4825176G>A	ENST00000380382.1	-	1	671	c.672C>T	c.(670-672)atC>atT	p.I224I	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Silent_p.I145I|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCCAGTTTGATCACGACCG	0.587000													21	36					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911095	230911095	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:230911095C>T	ENST00000295190.4	-	4	1205	c.747G>A	c.(745-747)aaG>aaA	p.K249K		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	249						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCCCACCATCCTTCTCTTCTG	0.587000													41	74					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21008734	21008734	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:21008734C>T	ENST00000261383.3	-	44	6471	c.6472G>A	c.(6472-6474)Gag>Aag	p.E2158K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2158	AAA 3 (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)		CTCAGGAGCTCGATGGGTGGC	0.532000													26	54					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79093950	79093950	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:79093950C>T	ENST00000370751.4	+	2	529	c.350C>T	c.(349-351)tCg>tTg	p.S117L	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	117						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGTCGTTTATCGAAAACGGAT	0.303000													16	3					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266220	100266220	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:100266220C>T	ENST00000515683.1	-	0	717				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTGCAGGGTCCCCCGAGGAT	0.537000													19	37					0	0	1	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197478	39197478	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:39197478G>A	ENST00000306271.4	-	1	235	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	58			Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGAAGCTAGGAAATCCACAG	0.602000													50	81					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259262	89259262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:89259262C>T	ENST00000336596.2	+	3	631	c.406C>T	c.(406-408)Cga>Tga	p.R136*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.R136*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.R136*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	136						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGTGAAATTTCGAGAGCATCA	0.418000										TSP Lung(6;0.00050)			42	57					0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31045633	31045633	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:31045633C>T	ENST00000394998.1	+	4	556	c.213C>T	c.(211-213)ccC>ccT	p.P71P	STX4_ENST00000313843.3_Silent_p.P73P|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	73					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TGGCCACGCCCCTTCCCGAGG	0.602000													22	43					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322740	45322740	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:45322740C>T	ENST00000391955.1	+	12	1655	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	BCAM_ENST00000270233.6_Silent_p.F537F			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	537	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.F537F(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCTTCCACTTCGGCACCGGTG	0.642000													354	48					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2840755	2840755	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:2840755C>T	ENST00000380445.3	+	3	270	c.198C>T	c.(196-198)ctC>ctT	p.L66L	VPS16_ENST00000380469.3_Silent_p.L66L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	66					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GGCCAGTGCTCGATATATACT	0.592000													27	40					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475643	140475643	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140475643C>T	ENST00000194155.4	+	1	1417	c.1269C>T	c.(1267-1269)atC>atT	p.I423I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		423	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCACCATCACCGTCACCG	0.522000													27	40					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52486251	52486251	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:52486251C>T	ENST00000232975.3	-	3	127	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	25	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	ACGAAGATGTCGAAGGCTGCC	0.637000													32	48					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242648673	242648673	+	Missense_Mutation	SNP	C	C	T	rs148805882	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:242648673C>T	ENST00000313552.6	+	3	178	c.152C>T	c.(151-153)tCc>tTc	p.S51F	ING5_ENST00000406941.1_Missense_Mutation_p.S51F|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	51					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GAGTACATCTCCACGGTGAAG	0.527000													66	90					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605856	84605856	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:84605856C>T	ENST00000344803.2	+	4	518	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCTCTGTGTCCCCTTTGGCTT	0.562000													16	8					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228960	3228960	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:3228960C>T	ENST00000217939.6	-	7	7438	c.7284G>A	c.(7282-7284)agG>agA	p.R2428R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2428	Ig-like C2-type 8.					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)				ACACCGTCTTCCTATCCTCTC	0.562000													25	10					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40740560	40740560	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:40740560C>T	ENST00000298910.7	+	42	6173	c.6115C>T	c.(6115-6117)Cgt>Tgt	p.R2039C		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2039	Protein kinase.				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)				TTCAGGGTTTCGTGCACCTGA	0.383000													16	21					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676579	11676579	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:11676579C>T	ENST00000423059.3	-	2	451	c.200G>A	c.(199-201)gGc>gAc	p.G67D	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	67	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATACATCGGCCCCATGGACC	0.448000										HNSCC(18;0.044)			22	69					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33670592	33670592	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:33670592G>A	ENST00000354992.2	-	16	2663	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	LARGE_ENST00000402320.1_Silent_p.L646L|LARGE_ENST00000452586.2_Silent_p.L497L|LARGE_ENST00000437602.2_Silent_p.L649L|LARGE_ENST00000337431.2_Silent_p.L646L|LARGE_ENST00000397394.2_Silent_p.L698L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	698					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCGTTGGGCAGCACAATGAAC	0.512000											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	29					0	0	1	0	0
GCHFR	2644	broad.mit.edu	37	15	41059481	41059481	+	Silent	SNP	G	G	A	rs149719928	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:41059481G>A	ENST00000558467.1	+	2	360	c.138G>A	c.(136-138)agG>agA	p.R46R	GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Silent_p.R52R|GCHFR_ENST00000559932.1_Silent_p.R46R|GCHFR_ENST00000260447.4_Silent_p.R63R			P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	63					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGGAACGCAGGGGCTTCCGTG	0.602000													38	95					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67077236	67077236	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:67077236A>G	ENST00000284425.2	-	37	4841	c.4667T>C	c.(4666-4668)cTa>cCa	p.L1556P	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1556					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGTCTGTGATAGAGGGTAAAC	0.368000													47	60					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736179	158736179	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158736179G>A	ENST00000335094.2	-	1	313	c.294C>T	c.(292-294)ctC>ctT	p.L98L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L98L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGATCTGCAGGAGACACCCAG	0.498000													20	63					0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202492833	202492833	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:202492833A>T	ENST00000409444.2	-	10	1202	c.885T>A	c.(883-885)ttT>ttA	p.F295L	TMEM237_ENST00000409883.2_Missense_Mutation_p.F303L|TMEM237_ENST00000466839.1_5'UTR	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	327						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CCAGGGCCAAAAAATTTCGGA	0.333000													6	13					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389895	128389895	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:128389895C>T	ENST00000389524.4	+	38	5302	c.5249C>T	c.(5248-5250)cCc>cTc	p.P1750L	MYO7B_ENST00000409090.1_Missense_Mutation_p.P602L|MYO7B_ENST00000409816.2_Missense_Mutation_p.P1749L|MYO7B_ENST00000428314.1_Missense_Mutation_p.P1749L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1749	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGCTGCTGCCCCATGCCCAG	0.662000													32	30					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62190680	62190680	+	Silent	SNP	G	G	A	rs141769251		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:62190680G>A	ENST00000467148.1	-	19	7938	c.7869C>T	c.(7867-7869)ctC>ctT	p.L2623L	HELZ2_ENST00000427522.2_Silent_p.L2054L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		AGAAGTCCAGGAGGCTACGCC	0.647000													9	15					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610463	81610463	+	Silent	SNP	G	G	A	rs149789138	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:81610463G>A	ENST00000541158.2	+	11	2383	c.2061G>A	c.(2059-2061)agG>agA	p.R687R	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.R687R			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	687					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)	CCTTCCAGAGGGATGTGTTCA	0.483000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						73	88					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142675	5142675	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5142675C>T	ENST00000498233.1	-	0	723																				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)		TAGAGAATTTCCAATCAGAGC	0.433000													32	51					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370185	11370185	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:11370185C>T	ENST00000435245.2	-	1	152	c.43G>A	c.(43-45)Gag>Aag	p.E15K	PRM2_ENST00000241808.4_Missense_Mutation_p.E15K|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	15					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CTGTACACCTCGTGCGAGCGT	0.642000													16	25					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579758	35579758	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:35579758A>G	ENST00000373330.1	+	11	2501	c.2327A>G	c.(2326-2328)aAc>aGc	p.N776S	ZMYM1_ENST00000359858.4_Missense_Mutation_p.N776S|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	776						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTTTGTTCAACACTATTTGT	0.313000													32	4					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162394441	162394441	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:162394441G>A	ENST00000366898.1	-	6	729	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PARK2_ENST00000338468.3_Silent_p.F18F|PARK2_ENST00000366894.1_Silent_p.F18F|PARK2_ENST00000366896.1_Silent_p.F60F|PARK2_ENST00000366897.1_Silent_p.F181F|PARK2_ENST00000366892.1_Silent_p.F209F	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	209	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CACATTTAAAGAAAAATTCCT	0.413000													13	19					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380298	78380298	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:78380298C>T	ENST00000278550.7	-	32	7554	c.7092G>A	c.(7090-7092)ggG>ggA	p.G2364G		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAAGAGGGGTCCCGATGTTGT	0.483000													25	31					0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42671467	42671467	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:42671467G>A	ENST00000306078.1	-	2	1513	c.918C>T	c.(916-918)ttC>ttT	p.F306F	KCNG3_ENST00000394973.4_Silent_p.F295F	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	306						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GAAGACCAATGAAGTGACGGG	0.453000													13	12					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5927167	5927167	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:5927167G>A	ENST00000203001.2	-	2	271	c.141C>T	c.(139-141)ttC>ttT	p.F47F	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	47					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACTGTTTTTCGAAAGTTACTT	0.373000													12	36					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505223	195505223	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:195505223G>A	ENST00000463781.3	-	3	13353	c.12894C>T	c.(12892-12894)gcC>gcT	p.A4298A	MUC4_ENST00000475231.1_Silent_p.A4298A|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Silent_p.A62A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1055					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGTGCATGGCAGTGCTGG	0.587000													19	29					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335157	7335157	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:7335157C>T	ENST00000318881.6	+	3	1266	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	SYT9_ENST00000396716.2_Silent_p.I311I	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	343						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGAAGGATATCGAATATGTCA	0.453000													38	69					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160484639	160484639	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:160484639C>T	ENST00000356956.1	+	27	4011	c.3863C>T	c.(3862-3864)cCg>cTg	p.P1288L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1288					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGCGGGAACCGCAGGGATTT	0.428000													20	29					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436628	25436628	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:25436628G>A	ENST00000424208.1	+	0	1092				SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1																						ATGCTCAATAGGATTACGCTG	0.507000													107	253					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900577	51900577	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:51900577G>A	ENST00000268919.4	+	1	339	c.183G>A	c.(181-183)gtG>gtA	p.V61V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	61					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						TAGAGTGGGTGGAGAAAGCAG	0.557000													45	62					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540300	28540300	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:28540300C>T	ENST00000452236.2	-	4	3983	c.3366G>A	c.(3364-3366)aaG>aaA	p.K1122K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1122					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aagttgcattcttcccttgca	0.333000													21	71					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905638	3905638	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:3905638G>A	ENST00000450849.2	+	4	810	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ATCAY_ENST00000600960.1_Missense_Mutation_p.E115K|ATCAY_ENST00000301260.6_Missense_Mutation_p.E115K|ATCAY_ENST00000398448.3_Missense_Mutation_p.E121K	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	115					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GAATGGCAACGAACTGGAGTG	0.577000													34	83					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372792	126372792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:126372792C>T	ENST00000394329.3	+	9	10634	c.10621C>T	c.(10621-10623)Caa>Taa	p.Q3541*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q1839*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3541	Cadherin 34.				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						CCCTCCAAATCAAGGTCCCTT	0.502000													47	77					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671851	25671851	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:25671851G>A	ENST00000281589.3	+	1	1552	c.1515G>A	c.(1513-1515)cgG>cgA	p.R505R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	505					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGGTTCCACGGTATAAATATG	0.527000													48	30					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43592649	43592649	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43592649G>A	ENST00000307126.5	-	6	855	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	GTPBP2_ENST00000307114.7_Missense_Mutation_p.L198F|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	286							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GCACTGACGAGGAGCAGGGCG	0.577000													27	81					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954610	70954610	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:70954610C>T	ENST00000393567.2	-	46	7819	c.7669G>A	c.(7669-7671)Gaa>Aaa	p.E2557K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2557										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)				ttcttcccttcgtggtcctcc	0.637000													4	12					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040297	88040297	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:88040297G>A	ENST00000319595.4	+	1	452	c.398G>A	c.(397-399)aGg>aAg	p.R133K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	133					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)	GAGTATGCCAGGAAAAGGACT	0.438000													13	27					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69380963	69380963	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:69380963G>A	ENST00000337103.4	+	3	1903	c.311G>A	c.(310-312)aGg>aAg	p.R104K	C8orf34_ENST00000518698.1_Missense_Mutation_p.R215K|C8orf34_ENST00000539993.1_Missense_Mutation_p.R129K|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000348340.2_Missense_Mutation_p.R129K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	129					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGAACTGGAGGACTAAACCA	0.398000													15	10					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170558	58170558	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:58170558C>T	ENST00000309403.2	-	1	324	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGTAATTTTCCACAGTGGCA	0.458000													36	40					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67629389	67629389	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:67629389C>T	ENST00000335894.4	+	5	530	c.464C>T	c.(463-465)cCc>cTc	p.P155L	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	155										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGCACAGATCCCTATTTCACT	0.378000													66	65					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47918844	47918844	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:47918844G>A	ENST00000276054.4	-	5	1549	c.615C>T	c.(613-615)tcC>tcT	p.S205S	ZNF630_ENST00000442455.3_Silent_p.S315S|ZNF630_ENST00000409324.3_Silent_p.S329S|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTGACTTCCGGGAGAATGCTC	0.438000													19	9					0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24175137	24175137	+	Splice_Site	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:24175137A>C	ENST00000374479.3	-	6	1168		c.e6+1			NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue						fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GACAAGACTCACCATACAGAT	0.502000													38	5					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180167054	180167054	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:180167054C>T	ENST00000307832.2	-	1	45	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGAAACTTCCCATGGCCTT	0.428000													8	11					0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42801363	42801363	+	Missense_Mutation	SNP	G	G	A	rs72563758		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:42801363G>A	ENST00000514985.1	-	5	861	c.605C>T	c.(604-606)tCg>tTg	p.S202L	SEPP1_ENST00000511224.1_Missense_Mutation_p.S202L|SEPP1_ENST00000506577.1_Missense_Mutation_p.S202L|SEPP1_ENST00000507920.1_Missense_Mutation_p.R92C|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	202					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GTAATGAGGCGATGGAGTTTC	0.408000													41	52					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807831	18807831	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:18807831G>A	ENST00000400664.1	+	1	408	c.356G>A	c.(355-357)aGa>aAa	p.R119K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	119						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)		AAGCCCCAGAGAAAAGGCTCA	0.627000													12	10					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765586	77765586	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:77765586C>T	ENST00000521891.2	+	10	6877	c.6429C>T	c.(6427-6429)atC>atT	p.I2143I	ZFHX4_ENST00000050961.6_Silent_p.I2098I|ZFHX4_ENST00000455469.2_Silent_p.I2098I|ZFHX4_ENST00000518282.1_Silent_p.I2117I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2098						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)			AGCTAAAAATCCTGAGGGCTT	0.423000										HNSCC(33;0.089)			11	20					0	0	1	0	0
UBALD2	283991	broad.mit.edu	37	17	74261619	74261619	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:74261619G>A	ENST00000327490.6	+	1	337	c.33G>A	c.(31-33)caG>caA	p.Q11Q		NM_182565.3	NP_872371.1			UBA-like domain containing 2																		TGCGGCACCAGGTCATGATCA	0.746000													5	10					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307269	162307269	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:162307269C>T	ENST00000306100.5	-	16	2610	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	FSTL5_ENST00000379164.4_Missense_Mutation_p.G724E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G724E|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.G715E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	725						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)		CTGTATTTCTCCTCTGATGGT	0.423000													32	27					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7106195	7106195	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:7106195G>A	ENST00000485100.1	-	8	845	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	DLG4_ENST00000399510.2_Intron|DLG4_ENST00000399506.2_Intron|DLG4_ENST00000302955.6_Intron			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	0					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GGGTCATGGGGAACTTTGGTG	0.512000													20	16					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170002343	170002343	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:170002343C>T	ENST00000263816.3	-	70	13187	c.12902G>A	c.(12901-12903)gGg>gAg	p.G4301E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4301					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G4301E(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTCCTTGCCCAAATTTATT	0.403000													13	18					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473144	175473144	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:175473144T>A	ENST00000454872.1	+	13	2255	c.2127T>A	c.(2125-2127)aaT>aaA	p.N709K		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	709					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GGATGCTGAATGACATTCTCC	0.468000													11	12					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499664	104499664	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:104499664G>A	ENST00000361820.3	-	1	1198	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	200					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGGCTCTGGGGGAAGGCGAGC	0.592000													13	5					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395394	29395394	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:29395394C>T	ENST00000377149.1	-	5	497	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	OR11A1_ENST00000377147.2_Missense_Mutation_p.E9K|OR11A1_ENST00000377148.1_Missense_Mutation_p.E9K|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTAATAGTTTCGTTTCCTGTG	0.393000													9	20					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9786134	9786134	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:9786134C>T	ENST00000383829.2	+	9	3266	c.2862C>T	c.(2860-2862)ccC>ccT	p.P954P	BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000457855.1_Silent_p.P948P|BRPF1_ENST00000424362.1_Silent_p.P947P|BRPF1_ENST00000302054.3_Silent_p.P948P	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	948	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTAGGAGCCCCCGGCCCAGTT	0.642000													12	9					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108618589	108618589	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:108618589C>T	ENST00000332082.4	+	6	1574	c.756C>T	c.(754-756)gcC>gcT	p.A252A	WSCD2_ENST00000261400.3_Silent_p.A252A|WSCD2_ENST00000549903.1_Silent_p.A252A|WSCD2_ENST00000547525.1_Silent_p.A252A			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	252	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGACAGCTGCCATGCTGAACA	0.582000													28	35					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137026271	137026271	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:137026271C>T	ENST00000359015.4	-	3	949	c.588_splice	c.e3-1	p.E197_splice		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	197					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CAAATTATTTCCTGAAAAACA	0.234000													9	9					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455611	84455611	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:84455611G>A	ENST00000377084.2	-	1	917	c.32C>T	c.(31-33)tCt>tTt	p.S11F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	11						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)		AAAACAAAGAGACGTCTCCAG	0.468000													60	45					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193045023	193045023	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:193045023C>T	ENST00000367446.3	+	3	864	c.654C>T	c.(652-654)ctC>ctT	p.L218L	TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367445.3_Silent_p.L218L|TROVE2_ENST00000400968.2_Silent_p.L218L|TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367443.1_Silent_p.L218L|TROVE2_ENST00000367441.1_Silent_p.L218L|TROVE2_ENST00000367444.3_Silent_p.L218L	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	218	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AAAAAGCACTCTCTGTGGAGA	0.338000													30	91					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41205854	41205854	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:41205854A>G	ENST00000399959.2	+	14	2449	c.1594A>G	c.(1594-1596)Acg>Gcg	p.T532A	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.T516A|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	532	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TATTGGTCGTACGGGACGTGT	0.378000										HNSCC(61;0.18)			40	11					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005285	25005285	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:25005285G>A	ENST00000382114.4	-	8	1611	c.1426C>T	c.(1426-1428)Cac>Tac	p.H476Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	476						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCCAGGTAGTGATTATCTTTA	0.483000													51	65					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729357	196729357	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:196729357C>T	ENST00000312428.6	-	41	7122	c.7022G>A	c.(7021-7023)gGg>gAg	p.G2341E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2341	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCCTCCAACCCCTACTAGGAG	0.468000													20	33					0	0	1	0	0
PTCHD3P1	387647	broad.mit.edu	37	10	29710383	29710383	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:29710383C>T	ENST00000427063.2	+	0	1107				PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000537908.1_RNA	NR_003930.1																						TCCTGGCCTCCTTGTAAACCC	0.507000													10	4					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417693	25417693	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:25417693C>T	ENST00000549301.1	+	0	471				SNHG14_ENST00000553149.1_RNA																							GCTCAGCCCTCCCTGGCACTC	0.627000													8	29					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901311	51901311	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:51901311G>A	ENST00000268919.4	+	1	1073	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	306	Kinesin-motor.			G -> R (in Ref. 1; AAK20830).	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						GGGCAGACGGGAAGTGGGAAG	0.552000													20	41					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23314938	23314938	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:23314938G>A	ENST00000311852.6	+	10	1700	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	480	Hemopexin-like 4.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TTCTACAAGGGGAACAAATAC	0.542000													36	59					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788706	80788706	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:80788706G>A	ENST00000269394.3	-	3	2317	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.S96F|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	495						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGAGACGAGAGAGGCGCTTCC	0.572000													25	39					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106982947	106982947	+	Silent	SNP	C	C	T	rs12252190		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:106982947C>T	ENST00000369701.3	+	20	3035	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	936						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)		TCAGTGCAGTCGTGTGGCCCA	0.443000													58	22					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857202	59857202	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:59857202G>A	ENST00000278888.3	+	2	196	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	32					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	ATCTCCCCAGGAAGTATCTTC	0.453000													25	30					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102252171	102252171	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:102252171C>T	ENST00000335968.3	-	5	940	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	242					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCATGGCCTCCCCAAGAATG	0.448000													10	22					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086559	39086559	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:39086559C>T	ENST00000400482.3	-	3	1490	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E301K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	301					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATTTCCAGTTCCTCTTTGGGC	0.478000													40	57					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32789636	32789636	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:32789636G>A	ENST00000326958.1	+	1	692	c.129G>A	c.(127-129)ggG>ggA	p.G43G	NPR3_ENST00000265074.8_3'UTR																							TTAATGGAGGGAAGAGAGAAA	0.408000													28	23					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800611	70800611	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:70800611C>T	ENST00000333538.5	+	2	948	c.314C>T	c.(313-315)cCg>cTg	p.P105L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	105						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)				ACTCTTTCCCCGGCTGAAGAA	0.473000													30	42					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462795	5462795	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:5462795G>A	ENST00000345221.3	-	4	1775	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	NLRP1_ENST00000354411.3_Silent_p.F407F|NLRP1_ENST00000269280.4_Silent_p.F407F|NLRP1_ENST00000262467.5_Silent_p.F407F|NLRP1_ENST00000577119.1_Silent_p.F407F|NLRP1_ENST00000572272.1_Silent_p.F407F|NLRP1_ENST00000571307.1_5'UTR	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	407	NACHT.				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)				CATCGAGGATGAAGAGCAGCC	0.592000													19	24					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025973	39025973	+	Silent	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:39025973T>A	ENST00000355481.4	+	80	11573	c.11442T>A	c.(11440-11442)ctT>ctA	p.L3814L	RYR1_ENST00000360985.3_Silent_p.L3819L|RYR1_ENST00000359596.3_Silent_p.L3819L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3819					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)	TGGATTATCTTAAGGACAAGA	0.498000													24	81					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834439	101834439	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:101834439C>T	ENST00000506729.1	-	1	281	c.110G>A	c.(109-111)gGa>gAa	p.G37E	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G37E|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G37E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G37E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G37E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	37						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)		CTTCGGGGTTCCCTTGGCCCT	0.607000													52	92					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181522	41181522	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:41181522C>T	ENST00000263413.3	-	7	1130	c.866G>A	c.(865-867)aGa>aAa	p.R289K	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R289K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	289	MACPF.				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)				ATTTTCACTTCTCTTTGAGGA	0.363000													23	47					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63468177	63468177	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:63468177C>T	ENST00000322893.7	-	4	573	c.304_splice	c.e4-1	p.R102_splice	KCNH5_ENST00000394964.2_Splice_Site_p.R44_splice|KCNH5_ENST00000394968.1_Splice_Site_p.R44_splice|KCNH5_ENST00000420622.2_Splice_Site_p.R102_splice	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	102	PAC.				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)		AACAGGGGTTCCTGTAACAGA	0.438000													7	11					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617564	37617564	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:37617564C>T	ENST00000399151.3	+	19	3371	c.3286C>T	c.(3286-3288)Cca>Tca	p.P1096S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1096					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTGGAGCTTCCAGACAGGAC	0.637000													27	21					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229363	39229363	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:39229363C>T	ENST00000340369.3	-	2	1802	c.1574G>A	c.(1573-1575)gGc>gAc	p.G525D	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G525D	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	525							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)		GGGGCTTCGGCCGAGCTGGTC	0.622000													23	28					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958793	54958793	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:54958793C>T	ENST00000273286.5	-	2	619	c.457G>A	c.(457-459)Gtt>Att	p.V153I	CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.V77I|CACNA2D3_ENST00000288197.5_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	153						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)		TTTTGTTGAACCGCAAGTATA	0.488000													32	44					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138828016	138828016	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:138828016C>T	ENST00000370557.1	-	25	3847	c.2819_splice	c.e25-1	p.M940_splice	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Splice_Site_p.M946_splice|ATP11C_ENST00000361648.2_Splice_Site_p.M946_splice|ATP11C_ENST00000327569.3_Splice_Site_p.M946_splice|ATP11C_ENST00000370543.1_Splice_Site_p.M946_splice			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	946					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGAAATTTTCCTATTGAGAA	0.403000													34	8					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374645	163374645	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:163374645G>A	ENST00000332142.5	-	4	586	c.487C>T	c.(487-489)Cct>Tct	p.P163S	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.P163S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	163					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)	CTCAGACCAGGGAATTTGAAC	0.393000													31	47					0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073433	67073433	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:67073433G>A	ENST00000288840.5	+	4	2082	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SMAD6_ENST00000338426.4_Missense_Mutation_p.D90N	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	351	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						TGCGGTGTACGACCAGGCCGT	0.682000													10	4					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869086	174869086	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:174869086C>T	ENST00000393752.2	-	2	2009	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	339					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TTGAAAATGCCTTCCGAAAAT	0.448000													32	51					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373159	100373159	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100373159G>A	ENST00000542585.1	+	0	6134				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGACATCTACGATGCCCAGGT	0.597000													14	14					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219528925	219528925	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:219528925G>A	ENST00000295704.2	-	10	1575	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	379					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTCCTTGAGGGGCCCCTCA	0.657000													60	105					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103629630	103629630	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:103629630G>A	ENST00000424685.2	-	1	333	c.174C>T	c.(172-174)tcC>tcT	p.S58S	RELN_ENST00000428762.1_Silent_p.S58S|RELN_ENST00000343529.5_Silent_p.S58S			P78509	RELN_HUMAN	reelin	58	Reelin.				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)		CAATATGCAGGGAAATGAGCA	0.652000													17	43					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15386768	15386768	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:15386768C>T	ENST00000376030.2	+	6	1311	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	KAZN_ENST00000400798.2_Silent_p.S245S|KAZN_ENST00000400797.3_Silent_p.S245S|KAZN_ENST00000361144.5_Silent_p.S333S|KAZN_ENST00000503743.1_Silent_p.S339S|KAZN_ENST00000422387.2_Silent_p.S339S	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	339					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						ACATCAACTCCCCTCGACACC	0.706000													42	60					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36324392	36324392	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:36324392A>C	ENST00000242108.4	+	5	1857	c.1139A>C	c.(1138-1140)aAg>aCg	p.K380T	EEPD1_ENST00000534978.1_Missense_Mutation_p.K380T	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	380					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GGGCACGGGAAGCTGGCGGGC	0.612000													39	43					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63086369	63086369	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:63086369C>T	ENST00000263991.5	+	9	1287	c.805C>T	c.(805-807)Cca>Tca	p.P269S	EHBP1_ENST00000431489.1_Missense_Mutation_p.P234S|EHBP1_ENST00000405289.1_Missense_Mutation_p.P234S|EHBP1_ENST00000405015.3_Missense_Mutation_p.P234S|EHBP1_ENST00000354487.3_Missense_Mutation_p.P234S	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	269						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)			GAATTCAAATCCATTTGATGA	0.353000													25	29					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651405	38651405	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38651405C>T	ENST00000413689.1	-	7	947	c.754G>A	c.(754-756)Gat>Aat	p.D252N	SCN5A_ENST00000455624.2_Missense_Mutation_p.D252N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D252N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D252N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D252N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D252N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D252N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D252N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D252N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D252N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	252					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACCATCACATCAGCCAGCTTC	0.597000													24	34					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40693178	40693178	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:40693178C>T	ENST00000225927.2	+	5	1076	c.975C>T	c.(973-975)tcC>tcT	p.S325S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	325						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CAGAGCCCTCCTACCTTGCCG	0.587000													28	43					0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203759326	203759326	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:203759326C>T	ENST00000261015.3	-	7	1382	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	211	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCTTTAGCATCTTATCCCAGG	0.323000													97	123					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527779	43527779	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:43527779G>A	ENST00000220420.5	-	10	1609	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	TGM5_ENST00000349114.4_Silent_p.S452S	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	534					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCTTGAACTGGGAGGACATGT	0.562000													21	57					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333189	333189	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:333189G>C	ENST00000343164.4	-	11	1332	c.1280C>G	c.(1279-1281)tCc>tGc	p.S427C	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.S335C	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	427					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CACAAGGAAGGAGACGACAGA	0.582000													11	25					0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963248	153963248	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:153963248G>A	ENST00000392558.4	+	0	11				RPS27_ENST00000368567.4_De_novo_Start_InFrame|RPS27_ENST00000493224.1_3'UTR			P42677	RS27_HUMAN	ribosomal protein S27						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTTTCCGGCGGTGACGACCT	0.527000													20	48					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955962	18955962	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:18955962C>T	ENST00000302797.3	-	1	594	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	124					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						GGCCACAGGACGGACAGGCAG	0.602000													28	76					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35026574	35026574	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:35026574C>T	ENST00000231420.6	-	8	1011	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	271					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CTCAGCGTATCTTTGAATTGC	0.393000													7	26					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170097679	170097679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:170097679C>T	ENST00000263816.3	-	25	4149	c.3864G>A	c.(3862-3864)tgG>tgA	p.W1288*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.W1151*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1288	LDL-receptor class A 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATCACAGAGCCATGCCCTGT	0.527000													30	62					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265550	75265550	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:75265550C>T	ENST00000325680.7	+	5	3674	c.3550C>T	c.(3550-3552)Cac>Tac	p.H1184Y	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.H989Y	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	989	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTATCCATATCACCGGGATGA	0.493000													18	29					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53451406	53451406	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:53451406C>T	ENST00000314250.6	+	12	1191	c.901C>T	c.(901-903)Cct>Tct	p.P301S	TENC1_ENST00000379902.3_Missense_Mutation_p.P177S|TENC1_ENST00000552570.1_Missense_Mutation_p.P301S|TENC1_ENST00000451358.1_Missense_Mutation_p.P301S|TENC1_ENST00000546602.1_Missense_Mutation_p.P301S|TENC1_ENST00000314276.3_Missense_Mutation_p.P311S|TENC1_ENST00000549700.1_Missense_Mutation_p.P301S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	301	C2 tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GAACAGCAGCCCTCTCTTCCT	0.532000													72	92					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95556876	95556876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:95556876G>A	ENST00000526495.1	-	29	6019	c.5728C>T	c.(5728-5730)Cga>Tga	p.R1910*	DICER1_ENST00000556045.1_Nonsense_Mutation_p.R808*|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000527414.1_Nonsense_Mutation_p.R1910*|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Nonsense_Mutation_p.R1910*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.R1910*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1910	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R1910R(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGAGGCTTCGGAGGGCTCTT	0.398000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				62	79					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089822	73089822	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:73089822C>T	ENST00000450736.2	+	2	506	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	SLC16A5_ENST00000580123.1_Missense_Mutation_p.P31S|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.P31S|SLC16A5_ENST00000538213.2_Missense_Mutation_p.P71S			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	31					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCTGGGCTTCCCCACGTGTAT	0.632000													41	39					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38690482	38690482	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:38690482C>T	ENST00000261438.5	+	3	639	c.334C>T	c.(334-336)Cca>Tca	p.P112S	KLF3_ENST00000514033.1_Missense_Mutation_p.P112S	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	112	Pro-rich.				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						ACCCCCTTCTCCAGGCGTGCA	0.627000													29	39					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43865724	43865724	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:43865724C>T	ENST00000378009.4	+	0	1235				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACATTCATCTCTCAGGAGGTG	0.622000													3	6					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196646674	196646674	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196646674C>T	ENST00000367429.4	+	5	736	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	CFH_ENST00000439155.2_Missense_Mutation_p.R166W|CFH_ENST00000359637.2_Intron	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	166	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAACCAGATCGGGAATACCA	0.393000													41	32					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438161	23438161	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:23438161C>T	ENST00000248996.4	+	2	945	c.279C>T	c.(277-279)atC>atT	p.I93I	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	93						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCCTCAGGATCGACTTCCACA	0.642000													56	96					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244764	46244764	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:46244764C>T	ENST00000296140.3	-	2	1166	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	347					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)		GTTCATGCTCCCCTGTGGAGG	0.592000													28	23					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834246	101834246	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:101834246A>G	ENST00000506729.1	-	1	474	c.303T>C	c.(301-303)tgT>tgC	p.C101C	SLCO6A1_ENST00000513675.1_Silent_p.C101C|SLCO6A1_ENST00000389019.3_Silent_p.C101C|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Silent_p.C101C|SLCO6A1_ENST00000379807.3_Silent_p.C101C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	101	Cys-rich.					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)		TGTTATTGCAACACTCACAGC	0.522000													23	39					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81925096	81925096	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:81925096C>T	ENST00000359376.3	+	11	1101	c.887C>T	c.(886-888)tCa>tTa	p.S296L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	296					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TACCTGTTTTCACGAGAAAAC	0.502000													21	30					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805374	106805374	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:106805374C>T	ENST00000438142.2	-	0	260																											CCAGGCCCTTCCCTGGGTGCT	0.542000													35	268					0	0	1	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544419	89544419	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:89544419G>A	ENST00000468494.1	-	0	234																											AGGCGCCTTGGAGATTGGCCT	0.517000													45	72					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159166549	159166549	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:159166549T>G	ENST00000297239.9	+	11	1087	c.893T>G	c.(892-894)aTg>aGg	p.M298R	SYTL3_ENST00000367081.3_Missense_Mutation_p.M24R|SYTL3_ENST00000360448.3_Missense_Mutation_p.M230R			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	298					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TGTACAGAGATGGGCAATTTT	0.338000													11	13					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952157	85952157	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:85952157G>A	ENST00000268638.5	+	7	1158	c.736G>A	c.(736-738)Ggc>Agc	p.G246S	IRF8_ENST00000562492.1_Missense_Mutation_p.G42S	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	246					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGGGCCCGAGGGCCTGGAGCT	0.736000													16	16					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180610	65180610	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:65180610G>A	ENST00000310045.7	-	2	2739	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	412						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)				CCCAGTTAGGGAATGTGTGTA	0.493000													14	30					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31352993	31352993	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:31352993G>A	ENST00000225823.2	-	5	2018	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.A331A	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	331					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TACAAAAAGGGGCATCCCCTG	0.562000													11	23					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7707764	7707764	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:7707764G>A	ENST00000572933.1	+	59	10623	c.9163G>A	c.(9163-9165)Gag>Aag	p.E3055K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3055K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3055	Stalk (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)				GCAGAAGCGGGAGGCAGATGA	0.612000													12	17					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229842	154229842	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:154229842C>T	ENST00000428931.1	+	20	2541	c.2374C>T	c.(2374-2376)Cct>Tct	p.P792S	UBAP2L_ENST00000343815.6_Missense_Mutation_p.P792S|UBAP2L_ENST00000361546.2_Missense_Mutation_p.P792S|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P803S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	792					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)			TCCCAACCTCCCTCCTGGGGT	0.473000													32	29					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966653	28966653	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:28966653G>A	ENST00000359747.4	+	3	116	c.87G>A	c.(85-87)gtG>gtA	p.V29V	DSG4_ENST00000308128.4_Silent_p.V29V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	29					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)			TGCTTAAGGTGAAGGAATTTG	0.388000													28	24					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156589168	156589168	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:156589168G>A	ENST00000353442.4	-	5	574	c.338C>T	c.(337-339)tCc>tTc	p.S113F	LMBR1_ENST00000540390.1_Missense_Mutation_p.S92F|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000354505.4_Missense_Mutation_p.S113F	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	113						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GGAAAAAAGGGAAGCAAGATT	0.328000													5	9					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156927605	156927605	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:156927605G>A	ENST00000368194.3	-	18	2544	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S462F	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	462					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCATACTTGGACCTGGAATG	0.463000													71	43					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17911434	17911434	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:17911434G>A	ENST00000458468.1	+	0	579				MIR99A_ENST00000384906.1_RNA	NR_027790.1																						CCGTAGATCCGATCTTGTGGT	0.413000													20	23					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645699	51645699	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:51645699G>A	ENST00000317643.6	+	1	142	c.73G>A	c.(73-75)Gat>Aat	p.D25N	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.D25N|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.D25N	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	25					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TAACCGGAAGGATTACTCGCT	0.612000													5	40					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158585695	158585695	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:158585695G>A	ENST00000424310.2	-	11	2334	c.1975C>T	c.(1975-1977)Cct>Tct	p.P659S	RNF145_ENST00000519865.1_Missense_Mutation_p.P659S|RNF145_ENST00000521606.2_Missense_Mutation_p.P676S|RNF145_ENST00000518802.1_Missense_Mutation_p.P689S|RNF145_ENST00000520638.1_Missense_Mutation_p.P673S|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.P687S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	659						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATTCAACAGGATGTGCTTCA	0.443000													46	81					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662304	99662304	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:99662304G>A	ENST00000373034.4	-	1	2967	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	PCDH19_ENST00000420881.2_Missense_Mutation_p.P431L|PCDH19_ENST00000255531.7_Missense_Mutation_p.P431L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGCAGCATGGGCACGCCGCC	0.557000													46	14					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103431349	103431349	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:103431349C>T	ENST00000412401.2	+	5	817	c.612C>T	c.(610-612)gcC>gcT	p.A204A	TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Silent_p.A161A|TMEM182_ENST00000409528.1_Silent_p.A108A	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	204						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTTTCCTGGCCCCAGCTGGGA	0.433000													17	24					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103404697	103404697	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:103404697G>A	ENST00000361246.2	-	35	5167	c.4879C>T	c.(4879-4881)Ctg>Ttg	p.L1627L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1627					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGCGAGCCAGGTTGGTGGGA	0.667000													48	51					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767024	105767024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:105767024G>A	ENST00000374798.3	+	4	298	c.228G>A	c.(226-228)tgG>tgA	p.W76*	CYLC2_ENST00000487798.1_Nonsense_Mutation_p.W76*	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	76	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			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)				AACCATTATGGATGTACCGTT	0.383000													13	8					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124415896	124415896	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:124415896G>A	ENST00000409039.3	+	73	12464	c.12439G>A	c.(12439-12441)Gag>Aag	p.E4147K	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4147					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAAGCCATCGAGGCCCTCCC	0.577000													17	29					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10447033	10447033	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10447033G>A	ENST00000245503.5	-	8	1120	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	MYH2_ENST00000397183.2_Missense_Mutation_p.R246C|MYH2_ENST00000532183.1_Missense_Mutation_p.R246C|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	246	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTACAAAGCGAGAGGAGTTG	0.448000													18	32					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69385761	69385761	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:69385761G>A	ENST00000342206.6	+	6	1449	c.950G>A	c.(949-951)aGa>aAa	p.R317K	IGBP1_ENST00000356413.4_Missense_Mutation_p.R317K			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	317					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						ACACTCCACAGAGCCCGGGAG	0.493000													10	1					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347574	74347574	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:74347574G>A	ENST00000226355.3	+	1	175	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	28	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAACCTCGGGATATAGGTAA	0.294000													14	20					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058339	11058339	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:11058339G>A	ENST00000470054.1	-	0	324									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)		AGGGGTAAAGGAGAGAAATCT	0.368000													6	93					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293129	33293129	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:33293129C>T	ENST00000280979.4	+	13	6280	c.6110C>T	c.(6109-6111)tCc>tTc	p.S2037F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2037					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCAACATTTCCTGTTGCAAC	0.428000													15	29					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834435	61834435	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:61834435G>A	ENST00000370339.3	-	4	1198	c.857C>T	c.(856-858)cCc>cTc	p.P286L	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.P236L	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	286	Gln/Pro-rich.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGCCTGCTGGGGGACTGGGGC	0.652000													44	48					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34101037	34101037	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:34101037C>T	ENST00000374181.3	-	1	406	c.237G>A	c.(235-237)ctG>ctA	p.L79L	GRM4_ENST00000538487.1_Silent_p.L79L|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	79					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCATGGCCTCCAGCCGGTGGA	0.622000													13	36					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32733298	32733298	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:32733298C>T	ENST00000421745.2	+	51	10086	c.9952C>T	c.(9952-9954)Cca>Tca	p.P3318S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3318					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			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)					TCCATTCCTTCCATCTGAAGA	0.373000													10	9					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56526749	56526749	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:56526749A>T	ENST00000424459.3	+	4	1414	c.140A>T	c.(139-141)cAc>cTc	p.H47L	GPBP1_ENST00000511209.1_Missense_Mutation_p.H54L|GPBP1_ENST00000506184.2_Missense_Mutation_p.H47L|GPBP1_ENST00000264779.6_Missense_Mutation_p.H54L|GPBP1_ENST00000538707.1_Missense_Mutation_p.H54L|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000454432.2_Missense_Mutation_p.H47L	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CGTCGACGACACAACTCTTCA	0.348000													37	44					0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10288574	10288574	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:10288574G>A	ENST00000296658.3	-	3	703	c.283C>T	c.(283-285)Cct>Tct	p.P95S	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	95						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						AGCCACTCAGGGAAGATAGAC	0.502000													17	44					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104880	183104880	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:183104880G>A	ENST00000435564.1	-	3	555	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PDE1A_ENST00000536095.1_Missense_Mutation_p.R15W|PDE1A_ENST00000456212.1_Missense_Mutation_p.R119W|PDE1A_ENST00000351439.5_Missense_Mutation_p.R103W|PDE1A_ENST00000409365.1_Missense_Mutation_p.R103W|PDE1A_ENST00000410103.1_Missense_Mutation_p.R119W|PDE1A_ENST00000331935.6_Missense_Mutation_p.R119W|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.R119W|PDE1A_ENST00000346717.4_Missense_Mutation_p.R85W	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	119					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R119W(4)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACAATGCTCCGAAATTTTGGT	0.418000													43	46					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7383050	7383050	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:7383050G>A	ENST00000355637.4	+	1	300	c.48G>A	c.(46-48)atG>atA	p.M16I	RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.M16I|RBFOX1_ENST00000436368.2_Missense_Mutation_p.M16I|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000340209.4_Start_Codon_SNP_p.M1I|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000547338.1_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	245					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGTGCCTATGATTGTACCGG	0.473000													47	56					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240929550	240929550	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:240929550G>A	ENST00000252711.2	-	9	1040	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	NDUFA10_ENST00000404554.1_Missense_Mutation_p.L314F|NDUFA10_ENST00000307300.4_Missense_Mutation_p.L344F	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	314					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ACTTCCGGGAGAAAGATAGGA	0.423000													35	33					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125240122	125240122	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:125240122G>A	ENST00000259357.2	-	1	113	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGAACAGGGCGAAGAACACGG	0.587000													34	14					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9520219	9520219	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:9520219C>T	ENST00000378429.3	-	11	2596	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	PAK7_ENST00000353224.5_Missense_Mutation_p.E684K|PAK7_ENST00000378423.1_Missense_Mutation_p.E684K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	684	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGAGGGCTCCCTCACCAAC	0.507000													64	92					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449231	35449231	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:35449231C>T	ENST00000404801.1	-	4	1914	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	ZNF792_ENST00000605484.1_Missense_Mutation_p.E443K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCCCACATTCACTGCACTGG	0.498000													39	4					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373174	86373174	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:86373174C>T	ENST00000604798.1	-	8	2534	c.1330G>A	c.(1330-1332)Ggt>Agt	p.G444S	MGAT4C_ENST00000552808.2_Missense_Mutation_p.G444S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G444S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G444S|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G444S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G473S			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	444					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGATTTACACCTGACATTTCA	0.333000													9	26					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39540966	39540966	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:39540966G>A	ENST00000379631.4	-	7	1216	c.872C>T	c.(871-873)gCc>gTc	p.A291V	STOML3_ENST00000423210.1_Missense_Mutation_p.A282V	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	291						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AGGACCTCAGGCTTTATTTGG	0.448000													52	33					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946560	144946560	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:144946560C>T	ENST00000525985.1	-	2	933	c.862G>A	c.(862-864)Gcc>Acc	p.A288T				P58107	EPIPL_HUMAN	epiplakin 1	288						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)			ACAACCCCGGCCACGCTGCCG	0.687000													18	28					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784309	30784309	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:30784309G>A	ENST00000246229.4	-	3	1701	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGCCAGACGTGAAGACAGGAG	0.577000													26	34					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74476262	74476262	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:74476262G>A	ENST00000323940.5	-	14	1480	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Missense_Mutation_p.P412L|STRA6_ENST00000535552.1_Missense_Mutation_p.P449L|STRA6_ENST00000395105.4_Missense_Mutation_p.P412L|STRA6_ENST00000416286.3_Missense_Mutation_p.P404L|STRA6_ENST00000563965.1_Missense_Mutation_p.P451L|STRA6_ENST00000423167.2_Missense_Mutation_p.P403L|STRA6_ENST00000574278.1_Missense_Mutation_p.P427L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	412					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TTGGCGGGAGGGATGGGGACT	0.617000													53	39					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261496	67261496	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:67261496G>A	ENST00000356404.3	-	20	3130	c.2905C>T	c.(2905-2907)Cac>Tac	p.H969Y	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Missense_Mutation_p.H968Y|PITPNM1_ENST00000534749.1_Missense_Mutation_p.H969Y	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	969					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTGCCAAAGTGGATCCACTTG	0.637000													16	21					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748899	152748899	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:152748899C>T	ENST00000334371.2	+	1	52	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	18	Pro-rich.				keratinization			p.P18T(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			caagtgcactcccaagtgccc	0.632000													20	15					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356374	40356374	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:40356374G>A	ENST00000310169.2	+	5	1416	c.1277G>A	c.(1276-1278)aGg>aAg	p.R426K		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	426					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTGCTGACGAGGAATATTGAG	0.498000													17	13					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916446	10916446	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:10916446C>T	ENST00000298232.7	-	19	1513	c.1146G>A	c.(1144-1146)gtG>gtA	p.V382V	TPTE_ENST00000342420.5_Silent_p.V362V|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Silent_p.V400V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	400	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGATGTTTCACTTGTGCAA	0.328000													13	57					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483064	20483064	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:20483064C>T	ENST00000305045.2	-	1	288	c.289G>A	c.(289-291)Gga>Aga	p.G97R		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCATACATCCTCCAAAGGAG	0.488000													13	23					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609185	609185	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:609185C>T	ENST00000264555.5	+	14	3857	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	PHRF1_ENST00000416188.2_Silent_p.P1242P|PHRF1_ENST00000533464.1_Silent_p.P1239P|PHRF1_ENST00000413872.2_Silent_p.P1241P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1243							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						TGCAGGCTCCCCCTGTCCTGG	0.652000													19	46					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123346839	123346839	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:123346839A>C	ENST00000223023.4	-	3	626	c.294T>G	c.(292-294)ttT>ttG	p.F98L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	98	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATTATATACAAAGTTATTGT	0.289000													17	28					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43119114	43119114	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:43119114G>A	ENST00000428554.2	+	22	3284	c.2141_splice	c.e22+1	p.S714_splice	CCDC30_ENST00000507855.1_Splice_Site_p.S503_splice|CCDC30_ENST00000390640.4_Splice_Site_p.S503_splice|CCDC30_ENST00000342022.4_Splice_Site_p.S714_splice|CCDC30_ENST00000340612.4_Splice_Site_p.S714_splice			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	714										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCAAACTCCAGGTTAGTAAAG	0.393000													12	31					0	0	1	0	0
C10orf55	414236	broad.mit.edu	37	10	75671786	75671786	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:75671786G>A	ENST00000409178.1	-	5	453	c.113C>T	c.(112-114)tCg>tTg	p.S38L	PLAU_ENST00000372762.4_Intron|C10orf55_ENST00000412307.2_Missense_Mutation_p.S38L|PLAU_ENST00000446342.1_Intron|PLAU_ENST00000372764.3_Intron|PLAU_ENST00000494287.1_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	38										endometrium(1)	1	Prostate(51;0.0112)					GCCTCCTCCCGAATCTCTTCC	0.552000													21	3					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40420974	40420974	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:40420974G>A	ENST00000372809.5	+	1	153	c.10G>A	c.(10-12)Gga>Aga	p.G4R	MFSD2A_ENST00000372811.5_Missense_Mutation_p.G4R|MFSD2A_ENST00000420632.2_5'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	4					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATGGCCAAAGGAGAAGGCGC	0.706000													6	2					0	0	1	0	0
CNTD2	79935	broad.mit.edu	37	19	40732323	40732323	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:40732323C>T	ENST00000430325.2	-	1	274	c.226G>A	c.(226-228)Gga>Aga	p.G76R	CNTD2_ENST00000433940.1_Missense_Mutation_p.G76R	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	76					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						TCGCGTTCTCCCTGCAGCCCC	0.751000													7	30					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20477031	20477031	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:20477031C>T	ENST00000573854.1	+	3	484	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	ACSM2A_ENST00000396104.2_Silent_p.L124L|ACSM2A_ENST00000575690.1_Silent_p.L124L|ACSM2A_ENST00000219054.6_Silent_p.L124L|ACSM2A_ENST00000417235.2_Silent_p.L45L|ACSM2A_ENST00000424070.1_Silent_p.L124L|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	124					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGGTGATCCTGGGCTGCAT	0.582000													16	10					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28412966	28412966	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:28412966G>A	ENST00000261609.7	-	68	10529	c.10421C>T	c.(10420-10422)tCc>tTc	p.S3474F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3474					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)		GTCCTCAGAGGAAACAATCTA	0.522000													56	35					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7721558	7721558	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:7721558G>A	ENST00000355637.4	+	10	1202		c.e10-1		RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000547338.1_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTTCCTTATAGAGTAGTGTAT	0.348000													11	33					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173523928	173523928	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:173523928G>A	ENST00000367714.3	-	11	1663	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	SLC9C2_ENST00000466087.1_Intron|SLC9C2_ENST00000536496.1_Missense_Mutation_p.S312L	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	414					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGTCAATAATGATATTACTTG	0.308000													40	109					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785534	1785534	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:1785534G>A	ENST00000539485.1	-	26	3590	c.3357C>T	c.(3355-3357)agC>agT	p.S1119S	ATP8B3_ENST00000310127.6_Silent_p.S1109S|ATP8B3_ENST00000525591.1_Silent_p.S1072S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1109					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GGTCGCTGAAGCTGGCGGGTC	0.627000													43	6					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537394	55537394	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:55537394G>A	ENST00000220676.1	+	4	1100	c.952G>A	c.(952-954)Gat>Aat	p.D318N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	318					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)			TTCTGAAGATGATATTGAGAA	0.308000													11	22					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792914	31792914	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:31792914G>A	ENST00000543095.2	-	24	3828	c.3644C>T	c.(3643-3645)tCc>tTc	p.S1215F	HEATR5A_ENST00000439727.1_Missense_Mutation_p.S922F|HEATR5A_ENST00000439348.1_Missense_Mutation_p.S1209F|HEATR5A_ENST00000389961.3_Missense_Mutation_p.S1209F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1209							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)		AAAAGGATGGGATTTTTCATC	0.418000													15	32					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90896122	90896122	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:90896122G>A	ENST00000287934.2	+	1	2340	c.1927G>A	c.(1927-1929)Ggg>Agg	p.G643R		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	643					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CAGCAAACAAGGGGAGACTAC	0.637000													16	34					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56119570	56119570	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:56119570T>A	ENST00000416613.1	+	25	2678	c.2606T>A	c.(2605-2607)tTa>tAa	p.L869*	KTN1_ENST00000413890.2_Nonsense_Mutation_p.L846*|KTN1_ENST00000438792.2_Nonsense_Mutation_p.L869*|KTN1_ENST00000395308.1_Nonsense_Mutation_p.L846*|KTN1_ENST00000395311.1_Nonsense_Mutation_p.L846*|KTN1_ENST00000554507.1_Nonsense_Mutation_p.L164*|KTN1_ENST00000395309.3_Nonsense_Mutation_p.L869*|KTN1_ENST00000395314.3_Nonsense_Mutation_p.L869*			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	869					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATTATCAGATTAAAAGGAAAA	0.323000			T	RET	papillary thryoid								8	14					0	0	1	0	0
CALM1	801	broad.mit.edu	37	14	90870227	90870227	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:90870227C>T	ENST00000356978.4	+	4	448	c.200C>T	c.(199-201)cCc>cTc	p.P67L	CALM1_ENST00000447653.3_Missense_Mutation_p.P68L|CALM1_ENST00000553542.1_Missense_Mutation_p.P31L|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Missense_Mutation_p.P31L	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	67	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	ATTGACTTCCCCGAATTTTTG	0.388000													10	13					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798497	99798497	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:99798497G>A	ENST00000426455.1	+	19	2373	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.E656K|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.E598K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	656					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGTAATCCCGAATTCACTTT	0.582000													31	42					0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105411974	105411974	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:105411974C>T	ENST00000394767.2	-	2	1436	c.986G>A	c.(985-987)cGc>cAc	p.R329H	CXXC4_ENST00000426831.1_Missense_Mutation_p.R160H|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	160					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.R160H(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TCCCGTTTTGCGGTTCCTGCA	0.507000													4	69					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433704	72433704	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:72433704C>T	ENST00000373517.3	-	1	980	c.625G>A	c.(625-627)Gat>Aat	p.D209N	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D67N	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	209	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)					ACAGCATAATCATAATAATAG	0.438000													20	3					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920116	10920116	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:10920116C>T	ENST00000298232.7	-	18	1451	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	TPTE_ENST00000342420.5_Missense_Mutation_p.E342K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E380K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	380	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E380K(1)|p.E362K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAATTTTTCGCTGTGGGTT	0.393000													26	66					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33147619	33147619	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:33147619G>A	ENST00000280979.4	+	8	3003	c.2833G>A	c.(2833-2835)Gaa>Aaa	p.E945K	AKAP6_ENST00000557272.1_Missense_Mutation_p.E945K|AKAP6_ENST00000557354.1_Missense_Mutation_p.E945K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	945					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAAGCGAAAGGAAGAGTTTGC	0.413000													23	24					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38035854	38035854	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38035854G>A	ENST00000357436.4	+	1	372		c.e1+1		SH3BP1_ENST00000442465.2_Splice_Site|SH3BP1_ENST00000336738.5_Splice_Site	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1						signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCTTGGGACGGTGAGTGTCAC	0.697000													4	4					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46401237	46401237	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:46401237G>A	ENST00000292301.4	+	3	1496	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	CCR2_ENST00000400888.2_Silent_p.V337V	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	337					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTCCAGGAGTGAGACCAGGAA	0.507000													38	38					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36521280	36521280	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:36521280C>T	ENST00000577233.1	+	4	1048	c.1048C>T	c.(1048-1050)Ccc>Tcc	p.P350S	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	350	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GCCTCCTCCACCCCATGCCCC	0.488000													18	31					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669202	53669202	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:53669202C>T	ENST00000600412.1	-	2	461	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ZNF665_ENST00000396424.3_Missense_Mutation_p.D181N			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCACATTCATCACATTTATAA	0.378000													46	117					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23847989	23847989	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:23847989C>T	ENST00000339180.4	+	3	607	c.391C>T	c.(391-393)Cca>Tca	p.P131S	CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	131	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CTGGCATACTCCAGCCGCTGT	0.642000													9	26					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88381736	88381736	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:88381736C>T	ENST00000298699.2	-	9	888	c.708G>A	c.(706-708)aaG>aaA	p.K236K	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	236										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GAGGACTGTCCTTGTTATCTT	0.323000													20	20					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936570	4936570	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4936570G>A	ENST00000322013.3	-	1	352	c.324C>T	c.(322-324)ttC>ttT	p.F108F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F108L(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		AGCAGTGAATGAAAAAGAGCT	0.507000													13	14					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12856267	12856267	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:12856267G>A	ENST00000378847.3	+	7	1052	c.715G>A	c.(715-717)Gag>Aag	p.E239K	CAMK1D_ENST00000378845.1_Missense_Mutation_p.E239K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	239	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGCGGAATATGAGTTTGACTC	0.532000													147	44					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182394310	182394310	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:182394310G>A	ENST00000397033.2	+	23	2903	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	825					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)	TGTTAGTGTGGAAATAATGGT	0.318000													17	22					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71724592	71724592	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:71724592G>A	ENST00000393524.2	-	3	1172	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	PHLPP2_ENST00000568954.1_Missense_Mutation_p.R147C|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R182C|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R147C|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R147C			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	147				R -> C (in Ref. 3; BX647823).		cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CGATCCAAACGATCCATGTGG	0.418000													15	19					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167654684	167654684	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:167654684G>A	ENST00000367854.3	+	3	466	c.135G>A	c.(133-135)agG>agA	p.R45R	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	45								p.R45R(1)		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)					CAACCCGAAGGAAACCGCCCT	0.577000													17	45					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52616499	52616499	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:52616499T>C	ENST00000493422.1	-	6	577	c.422A>G	c.(421-423)aAg>aGg	p.K141R		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	141	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)	TCCGTGGCTCTTTAAGACCTG	0.542000													41	41					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107704968	107704968	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:107704968C>T	ENST00000445937.1	+	7	799	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	OXR1_ENST00000497705.1_Missense_Mutation_p.H113Y|OXR1_ENST00000517566.2_Missense_Mutation_p.H180Y|OXR1_ENST00000312046.6_Missense_Mutation_p.H173Y|OXR1_ENST00000531443.1_Missense_Mutation_p.H180Y|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Missense_Mutation_p.H181Y	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	181					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCCTGATGTCCATCCAACAGA	0.333000													12	19					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293127	94293127	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:94293127G>A	ENST00000482108.1	+	2	738	c.259G>A	c.(259-261)Gat>Aat	p.D87N	PEG10_ENST00000488574.1_Missense_Mutation_p.D87N	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	87	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGAAGTTCGATGGCAACCC	0.562000													18	17					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33546244	33546244	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:33546244C>T	ENST00000504830.1	-	22	4701	c.4366G>A	c.(4366-4368)Gat>Aat	p.D1456N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1371N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1456	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTGTCCAATCACAGAGGCCT	0.507000										HNSCC(64;0.19)			20	29					0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118264253	118264253	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:118264253G>A	ENST00000304058.4	-	4	448	c.378C>T	c.(376-378)tcC>tcT	p.S126S	DTWD2_ENST00000510708.1_Silent_p.S192S|DTWD2_ENST00000515439.3_Intron			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	192										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GTCGGAACAAGGAGTTCTTAT	0.313000													26	25					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630866	140630866	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:140630866C>T	ENST00000520439.1	-	2	823	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E254K			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	254						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCCGCCGCTCATCCTCACTG	0.597000													22	22					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158293	139158293	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:139158293C>T	ENST00000395297.1	-	15	3619	c.3448_splice	c.e15-1	p.G1150_splice		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1150										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)			TGCACTGTTCCCTAAAAATGA	0.448000										HNSCC(54;0.14)			21	33					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121457755	121457755	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:121457755C>T	ENST00000305949.1	+	1	90	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	15					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGGAAAATTCCCGTCGGCGG	0.592000													26	33					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55153697	55153697	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:55153697T>A	ENST00000257290.5	+	19	2994	c.2663T>A	c.(2662-2664)aTc>aAc	p.I888N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.I648N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	888	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCTGGGAGATCTTTTCCCTT	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			44	49					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528441	57528441	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:57528441C>T	ENST00000420713.1	+	4	386	c.274C>T	c.(274-276)Cat>Tat	p.H92Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACATGTTCTCATTTCACCCA	0.323000													16	25					0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21498787	21498787	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:21498787G>A	ENST00000321760.6	+	2	195	c.47G>A	c.(46-48)gGa>gAa	p.G16E	TPPP2_ENST00000460647.2_Missense_Mutation_p.G16E|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.G16E	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	16						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCTGCGTTTGGAGAATCATCA	0.522000													9	12					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345394	119345394	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:119345394A>T	ENST00000338891.7	-	2	1187	c.744T>A	c.(742-744)taT>taA	p.Y248*	FAM184A_ENST00000522284.1_Nonsense_Mutation_p.Y128*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.Y248*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.Y128*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.Y128*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	248										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ACTTGCCTTCATAATCCTCAA	0.428000													13	21					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028485	27028485	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:27028485G>A	ENST00000314616.6	+	37	5306	c.5023G>A	c.(5023-5025)Gga>Aga	p.G1675R	SUPT6H_ENST00000347486.4_Missense_Mutation_p.G1675R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1675					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCGACTGGGGAAAAATGGC	0.567000													15	38					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285287	74285287	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:74285287G>A	ENST00000295897.4	+	13	1805	c.1716G>A	c.(1714-1716)atG>atA	p.M572I	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.M572I|ALB_ENST00000415165.2_Missense_Mutation_p.M380I|ALB_ENST00000401494.3_Missense_Mutation_p.M457I|ALB_ENST00000503124.1_Missense_Mutation_p.M422I	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	572	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.D573fs*6(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGCTGTTATGGATGATTTCG	0.413000													16	33					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741005	146741005	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:146741005C>T	ENST00000361727.3	+	4	925	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	137	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P137S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGGCATTTCCCGGAAACAT	0.408000										HNSCC(39;0.1)			24	34					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983038	57983038	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:57983038C>T	ENST00000309433.6	+	1	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTACTTTTTCCCCTCCTCCA	0.473000													41	42					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848976	42848976	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:42848976G>A	ENST00000334370.4	+	12	2723	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	MEGF8_ENST00000251268.6_Silent_p.Q696Q	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	764						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATACCTCCCAGCCTGACAAGG	0.562000													112	14					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484277	43484277	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:43484277G>A	ENST00000395891.1	+	11	2111	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E	HECW1_ENST00000453890.1_Silent_p.E502E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	502	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						Gggaagaagaggagaaggagc	0.632000													6	6					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900189	151900189	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151900189G>A	ENST00000393900.3	-	3	965	c.612C>T	c.(610-612)atC>atT	p.I204I	MAGEA12_ENST00000357916.4_Silent_p.I204I|MAGEA12_ENST00000393869.3_Silent_p.I204I|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	204	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGACGATTATCAGGA	0.577000													77	18					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49132047	49132047	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:49132047C>T	ENST00000443164.1	+	5	1873	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	SPHK2_ENST00000245222.4_Missense_Mutation_p.R328C|SPHK2_ENST00000599029.1_Missense_Mutation_p.R292C|SPHK2_ENST00000600537.1_Missense_Mutation_p.R269C|SPHK2_ENST00000599748.1_Missense_Mutation_p.R292C|SPHK2_ENST00000598088.1_Missense_Mutation_p.R328C|SPHK2_ENST00000340932.3_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	328					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTCGGGCTCCCGCTGTTTCTC	0.647000													133	13					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066554	9066554	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9066554A>T	ENST00000397910.4	-	3	21095	c.20892T>A	c.(20890-20892)ttT>ttA	p.F6964L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6966	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						TGTCAGTGGAAAAGCTGGCAT	0.458000													160	11					0	0	1	0	0
PMM2	5373	broad.mit.edu	37	16	8900255	8900255	+	Missense_Mutation	SNP	C	C	T	rs80338700		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:8900255C>T	ENST00000268261.4	+	4	404	c.338C>T	c.(337-339)cCg>cTg	p.P113L	PMM2_ENST00000566983.1_Missense_Mutation_p.P86L|PMM2_ENST00000539622.1_Missense_Mutation_p.P30L|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403000													13	21					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902537	52902537	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:52902537T>C	ENST00000261844.7	-	6	726	c.574A>G	c.(574-576)Act>Gct	p.T192A	FAM214A_ENST00000546305.2_Missense_Mutation_p.T199A	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	192																	TCAATTGGAGTCTGTGAAAAA	0.368000													58	30					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117079508	117079508	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:117079508C>T	ENST00000262820.3	-	2	1038	c.129G>A	c.(127-129)atG>atA	p.M43I	KLHL13_ENST00000541812.1_Missense_Mutation_p.M27I|KLHL13_ENST00000540167.1_Missense_Mutation_p.M27I|KLHL13_ENST00000545703.1_Start_Codon_SNP_p.M1I|KLHL13_ENST00000539496.1_Missense_Mutation_p.M46I|KLHL13_ENST00000371876.1_5'UTR|KLHL13_ENST00000371882.1_5'UTR|KLHL13_ENST00000371878.1_5'UTR|KLHL13_ENST00000469946.1_5'UTR	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	43					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGGACAATTTCATGTGTTGGT	0.413000													15	9					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89123778	89123778	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:89123778G>A	ENST00000554922.1	-	27	4194	c.3946C>T	c.(3946-3948)Cgc>Tgc	p.R1316C	EML5_ENST00000380664.5_Missense_Mutation_p.R1316C|EML5_ENST00000352093.5_Missense_Mutation_p.R1278C	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1316						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACATTGGGCGAATATTTGTT	0.313000													10	15					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934466	68934466	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:68934466C>T	ENST00000356291.2	-	7	684	c.625G>A	c.(625-627)Gga>Aga	p.G209R	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	209	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GTTTCCCTTCCTTGGACAATT	0.483000													17	41					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142676	5142676	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5142676C>T	ENST00000498233.1	-	0	722																				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)		AGAGAATTTCCAATCAGAGCA	0.433000													31	51					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201334340	201334340	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:201334340G>A	ENST00000509001.1	-	9	646	c.360C>T	c.(358-360)ctC>ctT	p.L120L	TNNT2_ENST00000360372.4_Silent_p.L115L|TNNT2_ENST00000367322.1_Silent_p.L120L|TNNT2_ENST00000367318.5_Silent_p.L120L|TNNT2_ENST00000458432.2_Silent_p.L132L|TNNT2_ENST00000421663.2_Silent_p.L122L|TNNT2_ENST00000236918.7_Silent_p.L125L|TNNT2_ENST00000367317.4_Silent_p.L120L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367315.2_Silent_p.L120L	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	130			F -> I (in CMH2).|F -> V (in CMH2).		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TGAGAGAAACGAGCTCCTCCT	0.547000													55	92					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328064	243328064	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:243328064G>A	ENST00000366542.1	-	13	3249	c.3198C>T	c.(3196-3198)tcC>tcT	p.S1066S	CEP170_ENST00000366543.1_Silent_p.S968S|CEP170_ENST00000366544.1_Silent_p.S968S|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1066	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTTCCAGTTTGGAATGTACAT	0.433000													4	48					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38516831	38516831	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38516831G>A	ENST00000332509.3	-	12	1860	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	PLA2G6_ENST00000402064.1_Silent_p.P505P|PLA2G6_ENST00000335539.3_Silent_p.P505P	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	559					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ACTCCTCCAGGGGCCCCGACT	0.617000													41	59					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489448	20489448	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:20489448G>A	ENST00000555186.1	+	0	436					NR_038836.1																						ATCACCAGTGGAAAACACAAC	0.413000													15	69					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6281242	6281242	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:6281242C>T	ENST00000525462.1	+	1	87	c.84C>T	c.(82-84)ctC>ctT	p.L28L	CCKBR_ENST00000525014.1_Silent_p.L28L|CCKBR_ENST00000334619.2_Silent_p.L28L|CCKBR_ENST00000531712.1_Silent_p.L28L|CCKBR_ENST00000532715.1_Silent_p.L28L			P32239	GASR_HUMAN	cholecystokinin B receptor	28					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GGGCGCCTCTCCTCAACAGCA	0.721000													6	13					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284925	15284925	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:15284925C>A	ENST00000263388.2	-	25	4765	c.4690G>T	c.(4690-4692)Ggc>Tgc	p.G1564C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1564					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTTCGGAGCCAGGACTAGGC	0.687000													4	39					0.000602214	0.000603447	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	35					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254555	3254555	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:3254555C>T	ENST00000304646.2	+	1	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGATGTATTTCGTTTTCATGT	0.493000													69	103					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55931947	55931947	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:55931947G>A	ENST00000389286.4	-	13	2264	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	739	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCCAGTGCAGGAAGATGGAAG	0.498000													27	93					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40959559	40959559	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:40959559G>A	ENST00000313164.9	+	12	1857	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	500	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGAGGGGTTGATGGAGGTTG	0.488000													11	5					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128540177	128540177	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:128540177G>A	ENST00000368227.3	-	6	1124	c.758C>T	c.(757-759)gCt>gTt	p.A253V	PTPRK_ENST00000368215.3_Missense_Mutation_p.A253V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A253V|PTPRK_ENST00000368226.4_Missense_Mutation_p.A253V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A253V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A253V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A253V|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	253	Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTGAAGGAAGCGGCAAACCT	0.413000													27	37					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3205548	3205548	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:3205548C>T	ENST00000520002.1	-	23	3998	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	CSMD1_ENST00000602723.1_Missense_Mutation_p.R1148Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1148Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1148Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1147Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1147Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1147Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1148	CUB 7.					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)		CTGGAAGCTTCGTGTTCTAAG	0.358000													7	5					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196682511	196682511	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:196682511C>T	ENST00000312428.6	-	50	9434	c.9334G>A	c.(9334-9336)Gat>Aat	p.D3112N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3112	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAAGCTGATCTTGCATTCCC	0.333000													17	20					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131648	30131648	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:30131648G>A	ENST00000376694.4	+	1	656	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TRIM15_ENST00000376688.1_Missense_Mutation_p.E63K	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	63					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGCCAAGAGGAGGAGCAGGC	0.642000													23	49					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876454	18876454	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:18876454C>T	ENST00000266505.7	-	4	421	c.158G>A	c.(157-159)gGa>gAa	p.G53E	PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G51E			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	53	EF-hand.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGTGATTCTTCCTTGTTTCAG	0.308000													19	30					0	0	1	0	0
HOXC5	3222	broad.mit.edu	37	12	54427299	54427299	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:54427299G>A	ENST00000312492.2	+	1	663	c.393G>A	c.(391-393)ctG>ctA	p.L131L	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	131					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCGCCGGACTGAGCCAGCCAC	0.622000													3	5					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10439889	10439889	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10439889C>T	ENST00000245503.5	-	17	2316	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	MYH2_ENST00000397183.2_Silent_p.K644K|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Silent_p.K644K|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	644	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCCCTTCTTCTTACCACCTT	0.418000													9	15					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489211	237489211	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:237489211C>T	ENST00000272928.3	+	2	413	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		GGTGATGTGTCCCAACATGCC	0.532000													16	19					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760626	91760626	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:91760626T>A	ENST00000389857.6	-	23	4089	c.4003A>T	c.(4003-4005)Aat>Tat	p.N1335Y		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1335					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGGTGATGATTTTCTTCCTCC	0.537000													33	40					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49068078	49068078	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:49068078C>T	ENST00000395443.2	-	10	2611		c.e10-1		QRICH1_ENST00000357496.2_Splice_Site|QRICH1_ENST00000424300.1_Splice_Site	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1											breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACTCTGGGGGCTGAAGAATAT	0.527000													11	15					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	803543	803543	+	Missense_Mutation	SNP	C	C	T	rs147690117		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:803543C>T	ENST00000297440.6	+	8	1735	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	HEATR2_ENST00000313147.5_Missense_Mutation_p.A572V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	572							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGGGTGACCGCGTCGCACCTT	0.652000													23	772					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788337	39788337	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:39788337C>T	ENST00000564288.1	+	32	4864	c.4087C>T	c.(4087-4089)Cct>Tct	p.P1363S	MACF1_ENST00000372915.3_Missense_Mutation_p.P1368S|MACF1_ENST00000317713.7_Missense_Mutation_p.P1368S|MACF1_ENST00000361689.2_Missense_Mutation_p.P1368S|MACF1_ENST00000567887.1_Missense_Mutation_p.P1400S|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.P1368S|MACF1_ENST00000545844.1_Missense_Mutation_p.P1368S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1368					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGAAATCCCCTGGCAAGCG	0.473000													33	45					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148556	69148556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:69148556G>A	ENST00000306560.1	+	4	1205	c.1049G>A	c.(1048-1050)tGg>tAg	p.W350*	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Nonsense_Mutation_p.W350*	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	350					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCTCCGGTGGCTCAACCAG	0.572000													26	44					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173934	51173934	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:51173934G>A	ENST00000440970.1	-	2	2339	c.1908C>T	c.(1906-1908)ccC>ccT	p.P636P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P733P|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	733					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)			TACACTTAAAGGGCCTCTCCC	0.542000													28	31					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26781399	26781399	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:26781399C>T	ENST00000272371.2	-	1	167	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R14Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	14					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCTGCCCCGCAGCTCCGA	0.652000													20	41					0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117864914	117864914	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:117864914G>A	ENST00000357099.4	+	1	203	c.30G>A	c.(28-30)agG>agA	p.R10R	ANKRD7_ENST00000265224.4_Silent_p.R10R|ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000417525.1_5'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	10					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TCTGGAAGAGGAAGAATGAGA	0.512000													19	35					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020501	19020501	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:19020501C>T	ENST00000304381.5	+	2	205	c.75C>T	c.(73-75)ctC>ctT	p.L25L	TMC7_ENST00000569532.1_Silent_p.L25L|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	25						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TAGAGAACCTCTCTCTAGACT	0.468000													47	74					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60558500	60558500	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:60558500C>T	ENST00000308287.1	+	3	333	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	79						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GCTACCTGGCCTCTATAGTCA	0.582000													43	71					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67165208	67165208	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:67165208T>C	ENST00000219139.3	+	4	439	c.251T>C	c.(250-252)tTg>tCg	p.L84S	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.L84S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	84										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GTATGTGATTTGACTAAAGTA	0.299000													14	31					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38180252	38180252	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38180252C>A	ENST00000417037.2	+	1	284	c.100C>A	c.(100-102)Ccc>Acc	p.P34T	MYD88_ENST00000495303.1_Missense_Mutation_p.P34T|MYD88_ENST00000396334.3_Missense_Mutation_p.P34T|MYD88_ENST00000443433.2_Missense_Mutation_p.P34T|MYD88_ENST00000424893.1_Missense_Mutation_p.P34T	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	21					3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCCTCCCTTCCCCTGGCTGC	0.701000			Mis		ABC-DLBCL								10	14					3.86212e-05	3.87531e-05	1	1	0
SH3GL2	6456	broad.mit.edu	37	9	17795676	17795676	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:17795676C>A	ENST00000380607.4	+	9	1114	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	SH3GL2_ENST00000537391.1_Missense_Mutation_p.L285M	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	332	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TGAGGGGATGCTGCATGGCCA	0.483000													3	12					1	1	1	1	0
MAP2	4133	broad.mit.edu	37	2	210574799	210574799	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:210574799C>T	ENST00000360351.4	+	12	5400	c.4894C>T	c.(4894-4896)Ccc>Tcc	p.P1632S	MAP2_ENST00000199940.6_Missense_Mutation_p.P333S|MAP2_ENST00000361559.4_Missense_Mutation_p.P276S|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Missense_Mutation_p.P276S|MAP2_ENST00000447185.1_Missense_Mutation_p.P1628S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1632					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACCAGGAACCCCCAAGTCTGC	0.552000													30	52					0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060348	139060348	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:139060348C>T	ENST00000302517.3	+	2	954	c.240C>T	c.(238-240)tcC>tcT	p.S80S	CXXC5_ENST00000511048.1_Silent_p.S80S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	80					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCTCCCACTACTCTT	0.642000													33	74					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872648	189872648	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:189872648G>A	ENST00000304636.3	+	46	3571	c.3401G>A	c.(3400-3402)gGa>gAa	p.G1134E	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1134	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCAGTCCAGGACCTGCAGGC	0.473000													37	65					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126754902	126754902	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:126754902C>T	ENST00000274473.6	+	12	1663	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	MEGF10_ENST00000503335.2_Missense_Mutation_p.P466S|MEGF10_ENST00000418761.2_Missense_Mutation_p.P466S|MEGF10_ENST00000508365.1_Missense_Mutation_p.P466S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	466	EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGTCTGCTCTCCTGTGGACGG	0.453000													40	57					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969596	240969596	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:240969596C>T	ENST00000366565.1	-	15	1494	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	RGS7_ENST00000446183.2_Silent_p.K287K|RGS7_ENST00000348120.2_Silent_p.K318K|RGS7_ENST00000407727.1_Silent_p.K371K|RGS7_ENST00000366563.1_Silent_p.K371K|RGS7_ENST00000401882.1_Silent_p.K318K|RGS7_ENST00000331110.7_Silent_p.K345K|RGS7_ENST00000366562.4_Silent_p.K371K|RGS7_ENST00000366564.1_Silent_p.K371K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	371	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAATAGGCCTCTTTTTCAGGT	0.458000													29	91					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15189610	15189610	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:15189610G>A	ENST00000355694.2	-	13	1231	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	TTC39B_ENST00000507285.1_Missense_Mutation_p.H234Y|TTC39B_ENST00000297615.5_Missense_Mutation_p.H330Y|TTC39B_ENST00000380850.4_Intron|TTC39B_ENST00000512701.1_Missense_Mutation_p.H399Y|TTC39B_ENST00000507993.1_Missense_Mutation_p.H234Y	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	333							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATTCGGGCATGATAAAACAAC	0.418000													12	5					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905009	55905009	+	Silent	SNP	G	G	A	rs144645378		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55905009G>A	ENST00000301529.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F62F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GATGTCTCAGGAAAAAGTACA	0.438000													49	79					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354921	122354921	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:122354921G>A	ENST00000483793.1	+	9	1466	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	PARP15_ENST00000493645.1_Missense_Mutation_p.E368K|PARP15_ENST00000464300.2_Missense_Mutation_p.E671K|PARP15_ENST00000310366.4_Missense_Mutation_p.E437K			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	649	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGCTTACCCAGAATATCTCAT	0.353000													9	21					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020174	55020174	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:55020174C>T	ENST00000324000.3	+	1	2131	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	33					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CTACGTGTCCCTGAAAAAGGA	0.597000													32	26					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528919	101528919	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:101528919C>T	ENST00000284395.5	+	6	905	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	LRRK1_ENST00000388948.3_Silent_p.L172L|LRRK1_ENST00000532029.2_Silent_p.L172L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	172					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)			TGTGAAGCTCCTGGTCCTGAC	0.632000													31	79					0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83372251	83372251	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:83372251A>C	ENST00000273920.3	+	3	510	c.242A>C	c.(241-243)aAt>aCt	p.N81T	ENOPH1_ENST00000509635.1_5'UTR	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	81					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GCATCTGGGAATGGAGTGGAT	0.488000													30	41					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887844	9887844	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:9887844G>A	ENST00000306084.6	+	2	1567	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.K389K|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	456	Thioredoxin.				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						TCCTGAGCAAGGAGGACTTTG	0.567000													16	15					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17109458	17109458	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:17109458C>T	ENST00000418129.2	+	5	3192	c.2727C>T	c.(2725-2727)ttC>ttT	p.F909F	PLCL2_ENST00000396755.2_Silent_p.F909F|PLCL2_ENST00000432376.1_Silent_p.F909F	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1035					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCATGGAATTCCATGAACACT	0.363000													26	34					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329591	75329591	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:75329591A>G	ENST00000556489.2	-	1	946	c.947T>C	c.(946-948)aTc>aCc	p.I316T	PROX2_ENST00000445876.1_Missense_Mutation_p.I316T|PROX2_ENST00000556084.2_Intron	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	316					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TCTTGGAGGGATAGGGTACCT	0.527000													33	67					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84362528	84362528	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:84362528C>T	ENST00000509231.1	-	1	1526	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	SATL1_ENST00000332921.5_Missense_Mutation_p.E296K|SATL1_ENST00000395409.3_Missense_Mutation_p.E296K			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	296	N-acetyltransferase.						N-acetyltransferase activity	p.E483K(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGCCCCGGTTCCCATATGCCT	0.572000													35	12					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454331	110454331	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:110454331G>A	ENST00000378402.5	+	35	4404	c.4300G>A	c.(4300-4302)Ggg>Agg	p.G1434R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1434	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTCTTAGAGGGATAGGATA	0.438000										HNSCC(38;0.096)			16	24					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505162	220505162	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:220505162C>T	ENST00000358055.3	+	21	3800	c.3288C>T	c.(3286-3288)atC>atT	p.I1096I	SLC4A3_ENST00000373762.3_Silent_p.I1123I|SLC4A3_ENST00000317151.3_Silent_p.I1096I|SLC4A3_ENST00000373760.2_Silent_p.I1096I|SLC4A3_ENST00000273063.6_Silent_p.I1123I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1096	Membrane (anion exchange).			I -> M (in Ref. 2; AAB05850).	bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTGTCCATCGTCATGGGGG	0.617000													21	41					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18364025	18364025	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:18364025G>A	ENST00000429452.1	-	17	2638	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Silent_p.I762I|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000441493.2_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1249	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGACAGGGTGATCACTTTTT	0.547000													40	77					0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042193	59042193	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:59042193C>T	ENST00000371225.2	-	1	973	c.636G>A	c.(634-636)aaG>aaA	p.K212K		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	212					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CACCGGCGGCCTTCTGAGACG	0.647000													4	5					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31751289	31751289	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:31751289C>T	ENST00000405650.1	-	0	907							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GGAATAAGGGCTTTCCGAGAT	0.388000													5	4					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23017262	23017262	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:23017262C>T	ENST00000255008.3	+	1	1206	c.1142C>T	c.(1141-1143)cCc>cTc	p.P381L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	381					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGCGCATCCCCCTCACCAGG	0.667000													21	28					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525995	176525995	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:176525995C>T	ENST00000367662.3	+	2	1701	c.537C>T	c.(535-537)acC>acT	p.T179T	PAPPA2_ENST00000367661.3_Silent_p.T179T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	179					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTTCACAACCCTGAACGAAC	0.577000													74	60					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326540	31326540	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:31326540C>T	ENST00000269197.5	+	12	6728	c.6728C>T	c.(6727-6729)gCa>gTa	p.A2243V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTTGTGTAGCATGCCTGGTT	0.458000													21	37					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89985011	89985011	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:89985011C>T	ENST00000428670.3	-	21	3869	c.3413G>A	c.(3412-3414)aGa>aAa	p.R1138K	ATP2B1_ENST00000359142.3_3'UTR|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R1138K|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R881K|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R1102K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1176					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						AATCGAACTTCTTGATTCCGG	0.373000													22	28					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44165129	44165129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:44165129C>T	ENST00000448290.2	+	3	339	c.268C>T	c.(268-270)Caa>Taa	p.Q90*	IRAK4_ENST00000440781.2_Intron|IRAK4_ENST00000431837.1_Intron|IRAK4_ENST00000551736.1_Nonsense_Mutation_p.Q90*	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	90	Death.				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|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TCTTTTGATCCAAAATGAATT	0.413000													12	22					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132207199	132207199	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:132207199A>G	ENST00000260818.6	+	30	3573	c.3325A>G	c.(3325-3327)Atc>Gtc	p.I1109V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1109							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GTTATACCATATCATGCAAGA	0.373000													16	25					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219247685	219247685	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:219247685G>A	ENST00000233202.6	+	2	350	c.10G>A	c.(10-12)Gac>Aac	p.D4N	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	4	Pro/Ser-rich.				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCACAGGTGACAAGGGTCC	0.617000													34	52					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4892079	4892079	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:4892079C>T	ENST00000328908.5	+	4	450	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.H53Y|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	107	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGAATACATCCACGACTTCAA	0.502000													17	42					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25752543	25752543	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:25752543C>T	ENST00000586223.1	+	0	1378					NR_033892.1																						GGCTCCAAGACCATCAGGAGC	0.552000													44	62					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230923874	230923874	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:230923874G>A	ENST00000295190.4	-	2	653	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	65						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCTCTGGTGGAATTCTTCCA	0.557000													26	43					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79847154	79847154	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:79847154G>A	ENST00000331204.4	-	3	447	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.R148C	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	141	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CGACCAGAGCGATCATAGTGC	0.532000													37	54					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537775	55537775	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:55537775C>T	ENST00000220676.1	+	4	1481	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	445					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)			AGCAAAGCATCGTTTTTATAG	0.438000													18	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179531961	179531961	+	Splice_Site	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179531961A>G	ENST00000589042.1	-	162	36022		c.e162+1		TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			AGAGAATTATACCTTCAGTTG	0.343000													3	5					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233028322	233028322	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:233028322C>T	ENST00000325385.7	+	9	1380	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	DIS3L2_ENST00000409307.1_Silent_p.F368F|DIS3L2_ENST00000273009.6_Silent_p.F368F	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	368							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CAGAGGAGTTCAGCAAGAGAA	0.433000													12	18					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684128	100684128	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100684128C>T	ENST00000306151.4	+	3	9495	c.9431C>T	c.(9430-9432)tCa>tTa	p.S3144L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3144	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)					GAAGCCCATTCATCTCCTACA	0.498000													115	181					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617024	1617024	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:1617024C>T	ENST00000381580.1	-	3	638	c.459G>A	c.(457-459)ggG>ggA	p.G153G	SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Silent_p.G186G|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Silent_p.G186G|SIRPG_ENST00000303415.3_Silent_p.G186G			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	186	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGAGCTCATTCCCATTTTTGA	0.577000													27	58					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10364285	10364285	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10364285C>T	ENST00000255381.2	-	12	1205	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	365	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						GCTTGAATTTCATGTTCCCAT	0.483000													31	66					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772687	33772687	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:33772687G>A	ENST00000285013.6	-	3	288	c.13C>T	c.(13-15)Cac>Tac	p.H5Y	SLFN13_ENST00000526861.1_Missense_Mutation_p.H5Y|SLFN13_ENST00000542635.1_Missense_Mutation_p.H5Y|SLFN13_ENST00000360502.2_Missense_Mutation_p.H5Y|SLFN13_ENST00000533791.1_Missense_Mutation_p.H5Y|SLFN13_ENST00000534689.1_Missense_Mutation_p.H5Y	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	5						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGGGAGCAGTGATTTGCCTCC	0.373000													16	20					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764314	138764314	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:138764314G>A	ENST00000242351.5	-	4	1689	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S458L|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S458L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	458					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCTAGGTGATGATATTTCTCT	0.463000													25	44					0	0	1	0	0
PMM2	5373	broad.mit.edu	37	16	8900254	8900254	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:8900254C>T	ENST00000268261.4	+	4	403	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	PMM2_ENST00000566983.1_Missense_Mutation_p.P86S|PMM2_ENST00000539622.1_Missense_Mutation_p.P30S|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	p.P113S(1)		breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AATTAAACTCCCGAAGAAGAG	0.403000													13	20					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967496	21967496	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:21967496G>A	ENST00000298717.4	-	9	1623	c.1472C>T	c.(1471-1473)cCc>cTc	p.P491L		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	491					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAAGCCTTGGGGATTTCCTTT	0.418000													33	62					0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48068504	48068504	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:48068504C>T	ENST00000397637.1	+	5	1416	c.462C>T	c.(460-462)ttC>ttT	p.F154F	PRMT2_ENST00000440086.1_Silent_p.F154F|PRMT2_ENST00000334494.4_Silent_p.F154F|PRMT2_ENST00000355680.3_Silent_p.F154F|PRMT2_ENST00000458387.2_Silent_p.F154F|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000291705.6_Silent_p.F154F|PRMT2_ENST00000397638.2_Silent_p.F154F|PRMT2_ENST00000451211.2_Silent_p.F154F|PRMT2_ENST00000397628.1_Silent_p.F154F			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	154	Interaction with ESR1.|Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TCAGTCTCTTCTGTGCACACT	0.562000													37	51					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77277428	77277428	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:77277428C>T	ENST00000376896.2	+	6	1410	c.798C>T	c.(796-798)atC>atT	p.I266I	RORB_ENST00000396204.2_Silent_p.I277I	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	277	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CCATCCAGATCACTCACGCCA	0.463000													42	10					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502268	20502268	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:20502268G>A	ENST00000315693.2	-	1	651	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GACTCCATAGGAGACAAGCAA	0.493000													30	39					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21489216	21489216	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:21489216G>A	ENST00000313654.9	+	55	7356	c.7115G>A	c.(7114-7116)aGa>aAa	p.R2372K	LAMA3_ENST00000587184.1_Missense_Mutation_p.R707K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2316K|LAMA3_ENST00000269217.6_Missense_Mutation_p.R763K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2372	Domain II and I.				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)	AACATGGACAGAATACGAGAA	0.453000													30	37					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49706744	49706744	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:49706744C>T	ENST00000303221.5	-	4	654	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	EMB_ENST00000514111.1_Missense_Mutation_p.E97K|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Missense_Mutation_p.E93K	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	147	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TGTTCCTTTTCCTCTCGAAAG	0.308000													11	16					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418213	38418213	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:38418213G>A	ENST00000322350.5	+	12	1886	c.1540G>A	c.(1540-1542)Ggc>Agc	p.G514S	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G280S|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G514S|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	514	Laminin G-like 1.					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)					CTATCTTGGTGGCGCTCCCAG	0.463000													20	44					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605574	50605574	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:50605574C>T	ENST00000444124.2	-	4	619	c.419G>A	c.(418-420)gGg>gAg	p.G140E	DDC_ENST00000357936.5_Missense_Mutation_p.G140E|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Missense_Mutation_p.G140E|DDC_ENST00000380984.4_Missense_Mutation_p.G140E|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	140	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACTCCTCCCCCTTCTCCAGC	0.557000													26	44					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139818971	139818971	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:139818971G>A	ENST00000397560.2	-	9	1285	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	JHDM1D_ENST00000006967.5_Silent_p.F396F	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		396					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CAAAGAAAGGGAATTTGAAAA	0.294000													43	65					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154139227	154139227	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:154139227C>T	ENST00000389740.2	-	3	1323	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	408						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTATAAATCCCATAACTTT	0.313000													21	23					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825094	46825094	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:46825094G>A	ENST00000339613.2	+	10	1293	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	HIF3A_ENST00000600383.1_Silent_p.L333L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.L400L|HIF3A_ENST00000244303.6_Silent_p.L333L|HIF3A_ENST00000472815.1_Silent_p.L333L|HIF3A_ENST00000420102.2_Silent_p.L351L|HIF3A_ENST00000377670.4_Silent_p.L402L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGGCTGCCCTGGCCGCTGACC	0.692000													69	4					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49436468	49436468	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:49436468C>T	ENST00000388901.5	-	3	275	c.202G>A	c.(202-204)Gga>Aga	p.G68R	COPS2_ENST00000542928.1_Intron|COPS2_ENST00000299259.6_Missense_Mutation_p.G68R	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	68					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GCTTTAAATCCCCATTCTCCT	0.284000													13	30					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38283093	38283093	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:38283093G>A	ENST00000373036.4	-	10	1969	c.1829C>T	c.(1828-1830)cCa>cTa	p.P610L		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	610						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTACATACCTGGGCTACTGGC	0.393000													149	29					0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7995160	7995160	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:7995160C>T	ENST00000377507.3	-	6	623	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	153					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCCCTCTCCTTCGTCCCA	0.502000													21	24					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142012091	142012091	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:142012091C>T	ENST00000389484.3	-	4	1434	c.463_splice	c.e4+1	p.D155_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	155	EGF-like 2; calcium-binding (Potential).				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)		TTTTACTTACCTTTACAGCTT	0.363000										TSP Lung(27;0.18)			11	27					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405789	106405789	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:106405789G>A	ENST00000390593.2	-	0	236																											TCTCGATGGGGACTGCCTGAT	0.527000													39	67					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9187423	9187423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:9187423C>T	ENST00000328194.3	-	11	2563	c.2243G>A	c.(2242-2244)tGg>tAg	p.W748*	DENND5A_ENST00000527700.1_Nonsense_Mutation_p.W91*|DENND5A_ENST00000530044.1_Nonsense_Mutation_p.W748*	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	748										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACAAACTTCCAATTGGTCTG	0.488000													31	47					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312759	10312759	+	Silent	SNP	G	G	A	rs144464113		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10312759G>A	ENST00000403437.2	-	16	1828	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	578	Myosin head-like.				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						GAGAGAAGTGGGCCTCAGCCT	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				37	48					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990681	47990681	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:47990681C>T	ENST00000371741.4	-	2	1582	c.1416G>A	c.(1414-1416)atG>atA	p.M472I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	472					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)			CTTTCTTACCCATATTCTCCC	0.423000													43	62					0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90730089	90730089	+	Silent	SNP	C	C	T	rs140086070		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:90730089C>T	ENST00000261303.8	+	5	466	c.363C>T	c.(361-363)gcC>gcT	p.A121A	PSMC1_ENST00000543772.2_Silent_p.A48A	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	121					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		ACAATCATGCCATCGTGTCTA	0.478000													23	28					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360360	40360360	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:40360360G>A	ENST00000338305.6	-	3	2234	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	564						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTTGCTGGGGGCCTCGTGGT	0.667000													16	34					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84690632	84690632	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:84690632C>T	ENST00000564996.1	+	3	360	c.219C>T	c.(217-219)tcC>tcT	p.S73S	KLHL36_ENST00000258157.5_Silent_p.S73S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	73	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACTTCAACTCCATGTTCACCA	0.627000													15	24					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129674431	129674431	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:129674431G>A	ENST00000421865.2	+	32	4695	c.4646G>A	c.(4645-4647)cGa>cAa	p.R1549Q		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1549	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCACGTGCCGACCTGGAGCC	0.562000													23	40					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114472711	114472711	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:114472711G>A	ENST00000513154.1	-	7	1522	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	TRIM36_ENST00000282369.3_Missense_Mutation_p.S411F|TRIM36_ENST00000514154.1_Missense_Mutation_p.S256F			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	411	COS.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGAGAAAAAGGATAATTCTCC	0.348000													12	16					0	0	1	0	0
BAX	581	broad.mit.edu	37	19	49464068	49464068	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:49464068C>T	ENST00000293288.8	+	5	371	c.369_splice	c.e5-1	p.A124_splice	BAX_ENST00000391871.3_3'UTR|BAX_ENST00000345358.7_Splice_Site_p.A124_splice|BAX_ENST00000354470.3_Splice_Site_p.A75_splice|BAX_ENST00000539787.1_Splice_Site_p.P157_splice|BAX_ENST00000415969.2_Splice_Site_p.A124_splice	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	124					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TCCCCACAGGCCCTGTGCACC	0.587000													68	9					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49254728	49254728	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:49254728G>A	ENST00000332408.4	-	1	913	c.485C>T	c.(484-486)tCg>tTg	p.S162L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	162	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane		p.S162L(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAGCGGGCACGAATCAGGGGT	0.612000													18	52					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163059615	163059615	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:163059615G>A	ENST00000188790.4	-	13	1295	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	FAP_ENST00000443424.1_Missense_Mutation_p.S338L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	363					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTTGTAGTACGAAATGGCATC	0.333000													3	15					0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69555565	69555565	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:69555565G>A	ENST00000357308.4	-	18	1909	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	GFPT1_ENST00000361060.4_Silent_p.I559I	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	577	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TAATTTCTTTGATTTTCTAAT	0.353000													13	19					0	0	1	0	0
FBXO4	26272	broad.mit.edu	37	5	41934071	41934071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:41934071C>T	ENST00000296812.2	+	4	726	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	FBXO4_ENST00000281623.3_Nonsense_Mutation_p.Q224*|FBXO4_ENST00000509134.1_Nonsense_Mutation_p.Q224*	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	224					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGTCAATTTTCAGTTGAACAA	0.323000													15	26					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189839238	189839238	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:189839238G>A	ENST00000304636.3	+	1	193	c.23G>A	c.(22-24)gGg>gAg	p.G8E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G8E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	8					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGCAAAAGGGGAGCTGGCTA	0.398000													12	31					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119431	3119431	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:3119431G>A	ENST00000304094.1	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGCAACCAGGAAGTGGCCAA	0.488000													30	69					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40659787	40659787	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:40659787C>T	ENST00000267889.3	+	8	1561	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	492	SSD.				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)		CACGGTGTACCCCTTGCTGGC	0.622000													34	89					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60986024	60986024	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:60986024C>T	ENST00000252998.1	-	14	2061	c.1905G>A	c.(1903-1905)agG>agA	p.R635R		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		CTGTCAGTTTCCTTCTCCCTC	0.637000													32	70					0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035187	30035187	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:30035187C>T	ENST00000300575.2	+	2	291	c.270C>T	c.(268-270)ccC>ccT	p.P90P		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	90						integral to membrane				breast(3)|lung(3)	6						GAGAGAAACCCATCGTGTTCA	0.557000													17	33					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35783561	35783561	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:35783561G>A	ENST00000400441.3	-	9	978	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	MROH8_ENST00000441008.2_Missense_Mutation_p.P313S|MROH8_ENST00000217333.8_Intron					maestro heat-like repeat family member 8																		TGTAACCAGGGGACCAAGTGC	0.463000													47	60					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723556	39723556	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:39723556C>T	ENST00000246662.4	-	7	1906	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	KRT9_ENST00000588431.1_Missense_Mutation_p.G381E	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	614	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gcttcctcctccgtagccgcc	0.537000													19	28					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28672216	28672216	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:28672216C>T	ENST00000280904.6	-	3	645	c.202G>A	c.(202-204)Gat>Aat	p.D68N	DSC2_ENST00000251081.6_Missense_Mutation_p.D68N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	68					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCAGGATCACTTGAATGA	0.333000													12	27					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923027	158923027	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:158923027C>T	ENST00000367097.3	+	13	3689	c.2332C>T	c.(2332-2334)Ccg>Tcg	p.P778S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	778					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.P778T(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCTGCCTCCCCCGCCGCAGGG	0.637000													42	41					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39505678	39505678	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:39505678G>A	ENST00000007735.3	-	2	395	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	117	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGCTGCACAGGATCTAGAAGG	0.498000													17	16					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120584968	120584968	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:120584968G>A	ENST00000300648.6	-	38	4847	c.4835C>T	c.(4834-4836)tCc>tTc	p.S1612F		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1612					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGGCCAGGGATGGGGCATC	0.577000													16	31					0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956118	66956118	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:66956118C>T	ENST00000299759.6	-	5	1038	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	RRAD_ENST00000420652.1_Missense_Mutation_p.R263Q			P55042	RAD_HUMAN	Ras-related associated with diabetes	263					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCTTGCCGTCGTGCGTTGGC	0.597000													22	40					0	0	1	0	0
GCHFR	2644	broad.mit.edu	37	15	41059480	41059480	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:41059480G>A	ENST00000558467.1	+	2	359	c.137G>A	c.(136-138)aGg>aAg	p.R46K	GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Missense_Mutation_p.R52K|GCHFR_ENST00000559932.1_Missense_Mutation_p.R46K|GCHFR_ENST00000260447.4_Missense_Mutation_p.R63K			P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	63					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTGGAACGCAGGGGCTTCCGT	0.602000													38	95					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223283800	223283800	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:223283800G>A	ENST00000540964.1	-	4	3035	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	TLR5_ENST00000342210.6_Silent_p.S858S			O60602	TLR5_HUMAN	toll-like receptor 5	858			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)		CCTTTGATTAGGAGATGGTTG	0.363000													45	45					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310953	171310953	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:171310953A>T	ENST00000367749.3	+	10	1982	c.1652A>T	c.(1651-1653)tAc>tTc	p.Y551F		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	551					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATGTCCCCTTACCTAGTAAGT	0.433000													16	30					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1647276	1647276	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:1647276C>T	ENST00000252804.4	-	19	3866	c.3816G>A	c.(3814-3816)agG>agA	p.R1272R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1272					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)		CGCATAGGATCCTGGCCAGCG	0.602000													4	30					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209290	50209290	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:50209290G>A	ENST00000392518.4	+	11	1461	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	CPT1C_ENST00000354199.5_Silent_p.Q363Q|CPT1C_ENST00000598293.1_Silent_p.Q363Q|CPT1C_ENST00000323446.5_Silent_p.Q363Q|CPT1C_ENST00000405931.2_Silent_p.Q352Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	363					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGCAGTTTCAGAGAATCCTGG	0.637000													57	6					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077799	74077799	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:74077799G>A	ENST00000334586.5	+	7	926	c.843G>A	c.(841-843)caG>caA	p.Q281Q	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	281	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCCTGGTGCAGGCCCTGCCCA	0.632000													26	30					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745039	42745039	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:42745039G>A	ENST00000409122.2	+	5	1902	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	C17orf104_ENST00000409464.1_Missense_Mutation_p.G421E|C17orf104_ENST00000359945.3_Missense_Mutation_p.G587E	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	587										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CAGCCAAATGGATTTTGTGAT	0.353000													8	22					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712378	247712378	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:247712378G>A	ENST00000366490.3	+	4	405	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR					germinal center-associated, signaling and motility-like																		GCAAGAGCACGAACCCGTGGT	0.547000													7	8					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849322	54849322	+	Silent	SNP	G	G	A	rs146578434		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:54849322G>A	ENST00000291759.4	-	4	596	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	180	Ig-like C2-type 2.					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)		GGCCCATGGGGAACAGGGCCT	0.567000													30	44					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376437	117376437	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:117376437C>T	ENST00000321322.6	-	9	1975	c.1974G>A	c.(1972-1974)ctG>ctA	p.L658L	DSCAML1_ENST00000527706.1_Silent_p.L388L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	598	Ig-like C2-type 7.				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)		AGGGCTGGATCAGAGGGGGCA	0.647000													12	5					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408168	10408168	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10408168G>A	ENST00000226207.5	-	22	2744	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	884						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						TCTTGCATCAGAGTAACCATT	0.428000													23	39					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717505	13717505	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13717505G>A	ENST00000265104.4	-	73	12728	c.12624C>T	c.(12622-12624)atC>atT	p.I4208I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4208	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCGTAGGGGATATTCCACC	0.542000									Kartagener syndrome				10	18					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023654	167023654	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:167023654G>A	ENST00000392766.2	-	17	1842	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	ZBBX_ENST00000392764.1_Missense_Mutation_p.S472F|ZBBX_ENST00000307529.5_Missense_Mutation_p.S501F|ZBBX_ENST00000455345.2_Missense_Mutation_p.S501F|ZBBX_ENST00000392767.2_Missense_Mutation_p.S501F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	501						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTTTCAAAGGAGGTGCTTTC	0.343000													8	14					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346374	70346374	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:70346374C>T	ENST00000305107.6	-	6	1611	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G386E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	522					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						CCCCTTCTTTCCTGTTCTAAC	0.413000													30	43					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536481	5536481	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5536481C>A	ENST00000380184.1	-	1	1454	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	397										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAGTGGCATCCTTGTATTCTT	0.522000													40	46					1.07121e-22	1.089e-22	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11651075	11651075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:11651075G>A	ENST00000262442.3	+	32	6670	c.6602G>A	c.(6601-6603)tGg>tAg	p.W2201*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W2201*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2201	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAGGAGAATGGAAGGATGGT	0.512000													24	26					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74640303	74640303	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:74640303G>A	ENST00000268053.6	-	2	517	c.363C>T	c.(361-363)ttC>ttT	p.F121F	CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000541301.1_Silent_p.F121F|CYP11A1_ENST00000419019.2_Intron	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	121					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCGGGATGAGGAATCGTTCTG	0.577000													19	58					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740843	140740843	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140740843G>A	ENST00000522605.1	+	1	1141	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_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)			AGAAAATGGAGAAGTTTACTG	0.453000													35	38					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5082414	5082414	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:5082414C>T	ENST00000159111.4	+	9	1035	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.P273S|KDM4B_ENST00000536461.1_Missense_Mutation_p.P273S	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	273	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GATCACATTTCCCTACGGCTA	0.597000													25	5					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745038	42745038	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:42745038G>A	ENST00000409122.2	+	5	1901	c.1759G>A	c.(1759-1761)Gga>Aga	p.G587R	C17orf104_ENST00000409464.1_Missense_Mutation_p.G421R|C17orf104_ENST00000359945.3_Missense_Mutation_p.G587R	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	587										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GCAGCCAAATGGATTTTGTGA	0.348000													9	21					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559150	129559150	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:129559150G>A	ENST00000422113.2	-	9	2896	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T395I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	857						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)		GGACCTGTCTGTCGTGGTGCC	0.557000													12	28					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002495	3002495	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:3002495G>A	ENST00000381127.1	+	6	839	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ARSF_ENST00000359361.2_Silent_p.G206G|ARSF_ENST00000537104.1_Silent_p.G206G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	206						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TAACCTTTGGGAAGCTGAGCG	0.547000													38	10					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433091	55433091	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55433091G>A	ENST00000314259.3	+	1	478	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGGTGGGGGGATTTATGCAC	0.468000													35	48					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634132	70634132	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:70634132C>T	ENST00000381269.2	-	2	1761	c.1008G>A	c.(1006-1008)gtG>gtA	p.V336V	SLC8A3_ENST00000534137.1_Silent_p.V336V|SLC8A3_ENST00000356921.2_Silent_p.V336V|SLC8A3_ENST00000357887.3_Silent_p.V336V|SLC8A3_ENST00000528359.1_Silent_p.V336V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	336					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGGCCATCTCCACCAGCTGAT	0.507000													32	40					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215279114	215279114	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:215279114G>A	ENST00000312504.5	+	2	999	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.R66Q	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	66	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGGGAGAACGATTTTTCCCT	0.458000													6	20					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76344712	76344712	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:76344712C>T	ENST00000263187.3	+	12	1680	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	526					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATATAGTCTACCTTTAAGGAC	0.318000								Mismatch excision repair (MMR)					29	4					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323642	152323642	+	Missense_Mutation	SNP	C	C	T	rs146579981		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:152323642C>T	ENST00000388718.5	-	3	6692	c.6620G>A	c.(6619-6621)cGa>cAa	p.R2207Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2207							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)			CTGTCCATGTCGAGATCCGGC	0.512000													200	124					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5925288	5925288	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:5925288G>A	ENST00000378156.4	-	27	3955	c.3690C>T	c.(3688-3690)ctC>ctT	p.L1230L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1230					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGAGTGGAGGTAGACCT	0.642000													8	0					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44259723	44259723	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:44259723C>T	ENST00000395749.2	-	23	2015	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	CAMK2B_ENST00000395747.2_Missense_Mutation_p.D499N|CAMK2B_ENST00000353625.4_Missense_Mutation_p.D460N|CAMK2B_ENST00000358707.3_Missense_Mutation_p.D484N|CAMK2B_ENST00000346990.4_Missense_Mutation_p.D430N|CAMK2B_ENST00000440254.2_Missense_Mutation_p.D523N|CAMK2B_ENST00000258682.6_Missense_Mutation_p.D498N|CAMK2B_ENST00000347193.4_Missense_Mutation_p.D473N|CAMK2B_ENST00000350811.3_Missense_Mutation_p.D523N|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000457475.1_Missense_Mutation_p.D499N|CAMK2B_ENST00000489429.1_5'UTR	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	647					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CACTTGCCGTCGCGGCGGTGC	0.667000													6	8					0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652529	211652529	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:211652529G>A	ENST00000367002.4	-	3	1600	c.437C>T	c.(436-438)cCc>cTc	p.P146L	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	146					response to stimulus|visual perception			p.P146L(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCTGCCGCGGGGCCGCAGGCT	0.687000													4	17					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5785332	5785332	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:5785332C>T	ENST00000382674.2	+	12	1801	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	EVC_ENST00000264956.6_Silent_p.F539F			P57679	EVC_HUMAN	Ellis van Creveld syndrome	539					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGCCCTGTTCCTTCAGACGC	0.592000													40	49					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113346517	113346517	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:113346517C>T	ENST00000264852.4	+	25	3172	c.2446C>T	c.(2446-2448)Ctt>Ttt	p.L816F	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.L821F	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	816						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGATGATGACCTTGATGTGGT	0.443000													37	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592079	179592079	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179592079C>T	ENST00000589042.1	-	69	20237	c.20013G>A	c.(20011-20013)aaG>aaA	p.K6671K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.K5427K|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.K6354K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6354	Ig-like 48.						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)			CTTCTAATTTCTTTACAAACT	0.383000													10	13					0	0	1	0	0
LOC101928063	101928063	broad.mit.edu	37	19	44503323	44503323	+	RNA	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:44503323T>C	ENST00000586860.1	-	0	274				RP11-15A1.7_ENST00000589021.1_RNA																							AAGCAGTTCCTTTTGAGTTTG	0.348000													11	24					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118835027	118835027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:118835027C>T	ENST00000504811.1	+	14	1247	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	HSD17B4_ENST00000515320.1_Nonsense_Mutation_p.Q312*|HSD17B4_ENST00000513628.1_Nonsense_Mutation_p.Q193*|HSD17B4_ENST00000509514.1_Nonsense_Mutation_p.Q68*|HSD17B4_ENST00000414835.2_Nonsense_Mutation_p.Q190*|HSD17B4_ENST00000256216.6_Nonsense_Mutation_p.Q330*|HSD17B4_ENST00000510025.1_Nonsense_Mutation_p.Q306*	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	330	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AGCTATTGGCCAGAAACTCCC	0.338000													15	27					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718532	117718532	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:117718532C>T	ENST00000317775.6	-	8	2207	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	NOS1_ENST00000338101.4_Missense_Mutation_p.E508K|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)	508					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)	GCTCGCACCTCTGTGAACTGC	0.592000													28	46					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105446646	105446646	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:105446646A>G	ENST00000258494.9	-	11	1491	c.1351T>C	c.(1351-1353)Ttc>Ctc	p.F451L	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.F451L	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	451	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCATCTGTGAACTGTCCATTT	0.378000											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046766	73046766	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:73046766C>T	ENST00000604411.1	+	0	34727				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTTGAGACTTCCATCCAACTC	0.483000													36	14					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31751290	31751290	+	RNA	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:31751290T>C	ENST00000405650.1	-	0	906							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GAATAAGGGCTTTCCGAGATT	0.393000													5	4					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77244668	77244668	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:77244668G>A	ENST00000426126.2	+	17	2451	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.R601Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	601					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						TTTGAATTTCGATGCTGTGGC	0.403000													54	61					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776797	13776797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13776797G>A	ENST00000265104.4	-	55	9228	c.9124C>T	c.(9124-9126)Cga>Tga	p.R3042*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3042	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3042R(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)					ATTTCATCTCGAGCAAATAGG	0.383000									Kartagener syndrome				29	35					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48921420	48921420	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:48921420G>A	ENST00000294954.7	-	10	911	c.890C>T	c.(889-891)tCt>tTt	p.S297F	LHCGR_ENST00000401907.1_Missense_Mutation_p.S297F|LHCGR_ENST00000403273.1_Missense_Mutation_p.S297F|LHCGR_ENST00000344775.3_Missense_Mutation_p.S235F|LHCGR_ENST00000405626.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	297					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGTTTTCAGAAATGGAATG	0.353000													6	8					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	50					0	0	1	0	0
PNOC	5368	broad.mit.edu	37	8	28196745	28196745	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:28196745C>T	ENST00000301908.3	+	3	523	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PNOC_ENST00000522209.1_Silent_p.F41F|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	105					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GGAGCTTGTTCCAGGAGCAGG	0.642000													15	17					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192749	34192749	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:34192749G>A	ENST00000297161.2	+	16	2296	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E	BMPER_ENST00000426693.1_Missense_Mutation_p.G641E	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	641	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTGGTCCGGGATGTATCAAG	0.498000													53	71					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15264295	15264295	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:15264295G>A	ENST00000256953.2	-	4	511	c.175C>T	c.(175-177)Cta>Tta	p.L59L	RERG_ENST00000536465.1_Silent_p.L59L|RERG_ENST00000537647.1_Silent_p.L59L|RERG_ENST00000546331.1_Silent_p.L40L|RERG_ENST00000538313.1_Silent_p.L59L	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	59					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GCAGTGTCTAGTATCTCCATG	0.338000													22	65					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107814658	107814658	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:107814658C>T	ENST00000328300.6	+	7	644	c.400C>T	c.(400-402)Cca>Tca	p.P134S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P134S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	134	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						ACGTGGATTTCCAGGCAGTCC	0.368000									Alport syndrome with Diffuse Leiomyomatosis				80	31					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15838913	15838913	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:15838913C>T	ENST00000305899.3	+	1	80	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTCTGCCTTCCCCCACCTCC	0.577000													179	24					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679627	160679627	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:160679627C>T	ENST00000366952.1	-	3	1581	c.100G>A	c.(100-102)Gga>Aga	p.G34R	SLC22A2_ENST00000366953.3_Missense_Mutation_p.G55R|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	55					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCGGCCACTCCGGGGCTCCGG	0.647000													29	31					0	0	1	0	0
PSMB9	5698	broad.mit.edu	37	6	32827225	32827225	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32827225C>T	ENST00000395330.1	+	6	655	c.507C>T	c.(505-507)gtC>gtT	p.V169V	PSMB9_ENST00000374859.2_Silent_p.V192V			P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			large_intestine(4)|lung(4)|skin(1)	9						GCGGGGGTGTCATCTACCTGG	0.512000													189	135					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39040784	39040784	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:39040784C>T	ENST00000373256.4	+	6	699	c.656C>T	c.(655-657)tCc>tTc	p.S219F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	219					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GGGCTCCTCTCCTACCAGGTG	0.617000													21	64					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53313178	53313178	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:53313178C>T	ENST00000448904.2	-	2	311	c.201G>A	c.(199-201)ggG>ggA	p.G67G	LECT1_ENST00000377962.3_Silent_p.G67G	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	67					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GACTGTCGCTCCCCTTCCAGA	0.721000													6	11					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923740	18923740	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:18923740C>T	ENST00000317977.6	+	15	2268	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V	SLC5A10_ENST00000417251.2_Missense_Mutation_p.A560V|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A566V|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A596V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A569V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A612V			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	596					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCCTACTTCGCCTGACACTGC	0.562000													12	21					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31521270	31521270	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:31521270G>A	ENST00000511367.2	-	5	1151	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	DROSHA_ENST00000513349.1_Silent_p.L303L|DROSHA_ENST00000344624.3_Silent_p.L303L|DROSHA_ENST00000442743.1_Silent_p.L303L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	303	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GACCTTTCCAGAGATGGTGAT	0.403000													76	94					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261497	67261497	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:67261497G>A	ENST00000356404.3	-	20	3129	c.2904C>T	c.(2902-2904)atC>atT	p.I968I	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.I967I|PITPNM1_ENST00000534749.1_Silent_p.I968I	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	968					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGCCAAAGTGGATCCACTTGC	0.642000													15	20					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57115012	57115012	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:57115012G>A	ENST00000454682.1	-	3	583	c.302C>T	c.(301-303)aCc>aTc	p.T101I	NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.T101I|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	33	NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGTAGGAAGGTTGGGGCTTC	0.547000			T	BCL6	NHL								18	30					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71300720	71300720	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:71300720C>T	ENST00000260382.5	+	12	1432	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	LRRC49_ENST00000560158.2_Missense_Mutation_p.P79L|LRRC49_ENST00000560691.1_Missense_Mutation_p.P97L|LRRC49_ENST00000544974.2_Missense_Mutation_p.P381L|LRRC49_ENST00000443425.2_Missense_Mutation_p.P347L|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.P396L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	391						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTTTCCAGGCCTCTAGACTCA	0.373000													19	53					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86524851	86524851	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:86524851G>A	ENST00000370571.2	-	9	2125	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P587S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	587	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCAAATCCTGGAATTCCCTGA	0.338000													8	12					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90281358	90281358	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:90281358C>T	ENST00000268130.7	+	16	1953	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	WDR93_ENST00000444934.2_Silent_p.L335L|WDR93_ENST00000560294.1_Silent_p.L590L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	618					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)			CTGCCCACTCCTGGAAAATAT	0.448000													96	222					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144654	55144654	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:55144654C>T	ENST00000396331.1	+	8	1503	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	LILRB1_ENST00000396315.1_Silent_p.F382F|LILRB1_ENST00000396327.3_Silent_p.F382F|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.F382F|LILRB1_ENST00000418536.2_Silent_p.F382F|LILRB1_ENST00000396321.2_Silent_p.F382F|LILRB1_ENST00000448689.1_Silent_p.F382F|LILRB1_ENST00000427581.2_Silent_p.F418F|LILRB1_ENST00000324602.7_Silent_p.F382F|LILRB1_ENST00000434867.2_Silent_p.F382F|LILRB1_ENST00000396317.1_Silent_p.F382F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	382	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCTGAATTCCCCATGGGTC	0.562000										HNSCC(37;0.09)			44	120					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804701	54804701	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:54804701C>T	ENST00000306858.7	+	5	1048	c.932C>T	c.(931-933)tCt>tTt	p.S311F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	311										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CATTCGGTGTCTTCATTAGCA	0.428000													26	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500317	179500317	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179500317C>T	ENST00000589042.1	-	227	41958	c.41734G>A	c.(41734-41736)Gaa>Aaa	p.E13912K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5039K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4972K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11344K|TTN_ENST00000460472.2_Missense_Mutation_p.E4847K|TTN_ENST00000591111.1_Missense_Mutation_p.E12271K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12271							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)			GCAGGGATTTCATCATATCCT	0.388000													4	7					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667501	133667501	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:133667501G>A	ENST00000310926.4	-	8	1257	c.984C>T	c.(982-984)ttC>ttT	p.F328F	SLCO2A1_ENST00000493729.1_Silent_p.F252F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	328					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CCACCAGGACGAAGAGTGAGT	0.572000													54	53					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900541	123900541	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:123900541T>A	ENST00000431524.1	+	1	245	c.212T>A	c.(211-213)tTc>tAc	p.F71Y		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GACATGTGGTTCTCCACTGTC	0.522000													39	13					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42174719	42174719	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:42174719G>A	ENST00000540880.1	+	6	924	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	MEI1_ENST00000400107.1_Intron|MEI1_ENST00000401548.3_Silent_p.G906G|MEI1_ENST00000300398.4_5'UTR			Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	919							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						CAGCCTCGGGGAACCTACCAT	0.547000													4	6					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054225	29054225	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:29054225G>A	ENST00000257189.4	+	15	2326	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	748					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGCTTCAGGATTCGGAGCA	0.532000													16	21					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688615	60688615	+	Silent	SNP	G	G	A	rs113369532		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:60688615G>A	ENST00000335712.6	-	4	1659	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	BCL11A_ENST00000538214.1_Silent_p.L444L|BCL11A_ENST00000537768.1_Silent_p.L147L|BCL11A_ENST00000358510.4_Silent_p.L444L|BCL11A_ENST00000356842.4_Silent_p.L478L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	478					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)			tccGGGATCAGGTTGGGGTCG	0.647000			T	IGH@	B-CLL								71	101					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44751838	44751838	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:44751838A>T	ENST00000372285.3	+	5	549	c.477A>T	c.(475-477)gaA>gaT	p.E159D	CD40_ENST00000372276.3_Missense_Mutation_p.E159D|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	159					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CTGCTTTCGAAAAATGTCACC	0.537000									Immune Deficiency with Hyper-IgM				60	75					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212587164	212587164	+	Silent	SNP	G	G	A	rs151042332		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:212587164G>A	ENST00000342788.4	-	7	1147	c.837C>T	c.(835-837)ttC>ttT	p.F279F	ERBB4_ENST00000436443.1_Silent_p.F279F|ERBB4_ENST00000402597.1_Silent_p.F279F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	279	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTTTGCATTGAAATTGTGCT	0.378000										TSP Lung(8;0.080)			12	15					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34192307	34192307	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:34192307C>T	ENST00000311880.2	-	3	380	c.232G>A	c.(232-234)Gag>Aag	p.E78K	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.E78K	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	78							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTGTAGATCTCAGGTTTCTTG	0.517000													18	24					0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79892830	79892830	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:79892830G>A	ENST00000337943.5	-	4	954	c.512C>T	c.(511-513)aCg>aTg	p.T171M	PYCR1_ENST00000577756.1_Missense_Mutation_p.T171M|PYCR1_ENST00000403172.4_Missense_Mutation_p.T171M|PYCR1_ENST00000329875.8_Missense_Mutation_p.T171M|PYCR1_ENST00000402252.2_Missense_Mutation_p.T198M	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	171					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	ACTGAGCCCCGTGACGGCATC	0.697000													12	19					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33413645	33413645	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:33413645G>A	ENST00000404816.2	+	7	1781	c.1426_splice	c.e7-1	p.V476_splice	LTBP1_ENST00000402934.1_Splice_Site_p.V150_splice|LTBP1_ENST00000390003.4_Splice_Site_p.V150_splice|LTBP1_ENST00000407925.1_Splice_Site_p.V150_splice|LTBP1_ENST00000404525.1_Splice_Site_p.V150_splice|LTBP1_ENST00000354476.3_Splice_Site_p.V476_splice|LTBP1_ENST00000418533.2_Splice_Site_p.V150_splice			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	476					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGTTGTAGTGAAATTTCCTC	0.368000													25	32					0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23584308	23584308	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:23584308C>T	ENST00000376971.3	-	2	330	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	107						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ATGTCATCTTCAAATTTCCTA	0.473000													55	82					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58202061	58202061	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:58202061A>C	ENST00000537081.1	-	10	1088	c.1089T>G	c.(1087-1089)gaT>gaG	p.D363E	AVIL_ENST00000257861.3_Missense_Mutation_p.D370E			O75366	AVIL_HUMAN	advillin	370	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CATCAAATTTATCCTGGAAAA	0.458000													8	133					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712274	46712274	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:46712274C>T	ENST00000454366.1	+	7	1609	c.1397C>T	c.(1396-1398)cCt>cTt	p.P466L		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	447					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATGCCTACTCCTACAAATCAA	0.318000													50	84					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188922	6188922	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:6188922C>T	ENST00000262450.3	-	23	3694	c.3595G>A	c.(3595-3597)Gaa>Aaa	p.E1199K	CHD5_ENST00000378021.1_Missense_Mutation_p.E56K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1199					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)		TTGAAGAGTTCCTCCGTGCCG	0.657000													16	20					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136691503	136691503	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:136691503G>A	ENST00000264161.4	-	6	696	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	DARS_ENST00000537273.1_Missense_Mutation_p.R61W	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	161					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GCCTCAGGCCGAACAGCATCA	0.388000													14	19					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28474150	28474150	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:28474150G>A	ENST00000361902.1	-	3	347	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000474923.1_Missense_Mutation_p.P100S	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	100					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)	TGGTTGCAGGGAAAGGCCAAC	0.498000													22	68					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94883460	94883460	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:94883460C>T	ENST00000357742.4	+	5	813	c.813C>T	c.(811-813)ttC>ttT	p.F271F	MCTP2_ENST00000543482.1_Silent_p.F271F|MCTP2_ENST00000451018.3_Silent_p.F271F|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	271	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATCTGATTTCATGGGTTCTG	0.323000													51	48					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018276	61018276	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:61018276G>A	ENST00000406396.3	-	6	845	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	152					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GCCCGGCTGGGGTACACGCTG	0.552000													33	50					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689443	25689443	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:25689443G>A	ENST00000377961.2	+	8	739	c.571G>A	c.(571-573)Gat>Aat	p.D191N	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	191						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ATTTAAAATGGATGTAAGTAG	0.368000													22	50					0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199539	178199539	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:178199539G>A	ENST00000503486.2	-	0	996					NR_024035.1																						GGCGTGCCCAGAGGCTGTCTT	0.577000													13	14					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826601	43826601	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:43826601C>T	ENST00000389420.3	-	20	2733	c.2734G>A	c.(2734-2736)Ggc>Agc	p.G912S	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G66S|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G912S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	912	TSP type-1 3.			WHVIG -> GMLLAK (in Ref. 1; AAO15766).		proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCACTTTTGCCAATAACATGC	0.343000													42	51					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30435775	30435775	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:30435775C>T	ENST00000448418.2	-	6	1126	c.766_splice	c.e6+1	p.V256_splice	MPPED2_ENST00000358117.5_Splice_Site_p.G256_splice|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	0					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTGTTCTTACCTTCATGGATT	0.453000													19	22					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170504	16170504	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:16170504C>T	ENST00000380289.2	+	3	1289	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	297					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGGACACCTCCATGCTCCACT	0.567000													86	19					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46406877	46406877	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:46406877G>A	ENST00000433765.2	-	1	1230	c.1231C>T	c.(1231-1233)Ctc>Ttc	p.L411F		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	411					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.L411F(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GTCCAGGTGAGGATGAAGGCT	0.597000													6	15					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19961759	19961759	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:19961759A>G	ENST00000263207.3	-	12	2255	c.1964T>C	c.(1963-1965)tTt>tCt	p.F655S	ARVCF_ENST00000406522.1_Missense_Mutation_p.F586S|ARVCF_ENST00000406259.1_Missense_Mutation_p.F649S|ARVCF_ENST00000401994.1_Missense_Mutation_p.F592S|ARVCF_ENST00000344269.3_Missense_Mutation_p.F592S	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	655					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGCAGCTCAAAGCCTAGGTG	0.642000													3	9					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215808020	215808020	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:215808020T>A	ENST00000366943.2	-	70	15464	c.15078A>T	c.(15076-15078)aaA>aaT	p.K5026N	USH2A_ENST00000307340.3_Missense_Mutation_p.K5026N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5026					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)		ATCCCTTCTTTTTCCCAGGAG	0.453000										HNSCC(13;0.011)			55	28					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206874380	206874380	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:206874380G>A	ENST00000403263.1	-	9	2085	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	561					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGTGGAATGGGTTTTTGGGGT	0.577000													26	43					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105010432	105010432	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:105010432C>T	ENST00000507740.1	+	15	2676	c.2440C>T	c.(2440-2442)Cgc>Tgc	p.R814C	RIMS2_ENST00000436393.2_Missense_Mutation_p.R800C|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1076	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACTCTACCTCGCTCCAGATA	0.353000										HNSCC(12;0.0054)			18	35					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000													107	228					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6709724	6709724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:6709724G>A	ENST00000309577.6	-	8	1202	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.R344*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.R340*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.R347*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	347					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|zinc ion binding	p.R347*(2)		central_nervous_system(2)	2						TTAGTGGTTCGGAGTTTCTTG	0.448000													36	41					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156420	70156420	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:70156420G>A	ENST00000335568.5	+	5	1203	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	401					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGATCAACCTGATAACATTGC	0.453000													49	40					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543772	54543772	+	Missense_Mutation	SNP	G	G	A	rs149688029	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:54543772G>A	ENST00000566473.2	+	14	1622	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R541Q			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	541										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATTAAAGATCGACATGGAAAC	0.403000													20	29					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123209	151123209	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151123209G>A	ENST00000370328.3	-	9	1538	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	495					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCACATTGAAGAAGAAGA	0.537000													10	6					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2947361	2947361	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:2947361C>T	ENST00000381130.2	+	8	1273	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	425						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTTCCTCTTCCACTACTGTGG	0.567000													47	8					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625517	25625517	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:25625517G>A	ENST00000398215.2	+	5	592	c.421G>A	c.(421-423)Gtg>Atg	p.V141M		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	141	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CCAGGAGAAGGTGTCATCTGT	0.557000													12	29					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37720489	37720489	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:37720489A>G	ENST00000330843.4	-	6	3788	c.3776T>C	c.(3775-3777)cTt>cCt	p.L1259P	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.L625P|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.L477P|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1259	FIP-RBD.|Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACCCTGACAAGCAGGTTGTC	0.483000													51	73					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93778875	93778875	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:93778875G>A	ENST00000315765.9	+	2	215	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	69	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R69R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGCCCAACAGGATAGGCAGTA	0.423000													4	8					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100912728	100912728	+	Missense_Mutation	SNP	G	G	A	rs2020880		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:100912728G>A	ENST00000325455.5	-	7	4047	c.2594C>T	c.(2593-2595)tCg>tTg	p.S865L	PGR_ENST00000534013.1_Missense_Mutation_p.S271L|PGR_ENST00000263463.5_Missense_Mutation_p.S763L	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	865	Steroid-binding.		S -> L (in dbSNP:rs2020880).		cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTGTGAGCTCGACACAACTCC	0.388000													9	22					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178130	42178130	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:42178130G>A	ENST00000320955.6	-	7	1550	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	441					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CATCCTTAAGGAAACTCTCCC	0.667000													4	10					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136593165	136593165	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:136593165C>T	ENST00000531224.1	-	8	2263	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	BCLAF1_ENST00000392348.2_Missense_Mutation_p.E669K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E669K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E669K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E671K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E498K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	671					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTCTCTCTTCCCCTGCTAAA	0.289000													4	40					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131306348	131306348	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:131306348C>T	ENST00000512055.1	-	12	2886	c.760G>A	c.(760-762)Gga>Aga	p.G254R	CPNE4_ENST00000429747.1_Missense_Mutation_p.G254R|CPNE4_ENST00000512332.1_Missense_Mutation_p.G272R|CPNE4_ENST00000511604.1_Missense_Mutation_p.G254R|CPNE4_ENST00000502818.1_Missense_Mutation_p.G272R			Q96A23	CPNE4_HUMAN	copine IV	254										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCCATTGCTCCTCTCATCTCC	0.448000													20	30					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171243660	171243660	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:171243660C>T	ENST00000334231.6	+	14	1446	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	MYO3B_ENST00000408978.4_Silent_p.S473S|MYO3B_ENST00000409044.3_Silent_p.S473S|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	473	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGTCAACTCCCTGGTGGAAG	0.443000													20	31					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686517	3686517	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:3686517T>C	ENST00000344754.4	-	3	579	c.580A>G	c.(580-582)Acc>Gcc	p.T194A	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.T194A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	194	Ig-like C2-type 1.				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						CCGACGCCGGTGGGCTCAAAC	0.642000													25	56					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274262	74274262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:74274262G>A	ENST00000409262.3	+	1	813	c.813G>A	c.(811-813)tgG>tgA	p.W271*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	271							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						CTCCCTCATGGCCTGTGGTTC	0.582000													25	32					0	0	1	0	0
APOC1	341	broad.mit.edu	37	19	45419533	45419533	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:45419533C>T	ENST00000588750.1	+	4	470	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	APOC1_ENST00000588802.1_Missense_Mutation_p.R49W|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000592885.1_Missense_Mutation_p.R49W|APOC1_ENST00000586638.1_Missense_Mutation_p.R49W|APOC1_ENST00000252491.4_Missense_Mutation_p.R49W			P02654	APOC1_HUMAN	apolipoprotein C-I	49					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GGACAAGGCTCGGGAACTCAT	0.577000													218	33					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142761	103142761	+	Missense_Mutation	SNP	A	A	C	rs115217520	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:103142761A>C	ENST00000295269.4	+	11	2451	c.1994A>C	c.(1993-1995)aAt>aCt	p.N665T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	665					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCCTACGGGAATCCTCAGTCT	0.498000													39	41					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70935003	70935003	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:70935003C>T	ENST00000393567.2	-	53	9102	c.8952G>A	c.(8950-8952)ctG>ctA	p.L2984L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2984										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)				TCCCCTGCATCAGGGATACAG	0.567000													19	88					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81627296	81627296	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:81627296C>T	ENST00000558726.1	-	21	2362	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E742K			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	742						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTGGTGCTTTCTTCCTGGGTC	0.542000													38	17					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502267	20502267	+	Silent	SNP	G	G	A	rs139197151	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:20502267G>A	ENST00000315693.2	-	1	652	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGACTCCATAGGAGACAAGCA	0.488000													28	40					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514230	157514230	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:157514230G>A	ENST00000361835.3	-	5	823	c.666C>T	c.(664-666)gtC>gtT	p.V222V	FCRL5_ENST00000368191.3_Silent_p.V137V|FCRL5_ENST00000356953.4_Silent_p.V222V|FCRL5_ENST00000368189.3_Silent_p.V222V|FCRL5_ENST00000368190.3_Silent_p.V222V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	222	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCGGAGCGGGACATCTGACC	0.557000													66	123					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32828468	32828468	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:32828468G>A	ENST00000397452.1	-	11	1151	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	BPIFC_ENST00000534972.1_Silent_p.P71P|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Silent_p.P347P			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	347						extracellular region	lipopolysaccharide binding|phospholipid binding										GATTGATTATGGGAGGCTCTG	0.488000													39	51					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361665	107361665	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:107361665C>T	ENST00000374779.2	-	1	123	c.30G>A	c.(28-30)gtG>gtA	p.V10V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GAAAAAATTCCACCAGAATGG	0.378000													14	5					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032409	10032409	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:10032409C>T	ENST00000396573.2	-	4	724		c.e4-1		GRIN2A_ENST00000396575.2_Splice_Site|GRIN2A_ENST00000404927.2_Splice_Site|GRIN2A_ENST00000330684.3_Splice_Site|GRIN2A_ENST00000566670.1_Splice_Site|GRIN2A_ENST00000562109.1_Splice_Site|GRIN2A_ENST00000535259.1_Splice_Site	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACGTCGGATCCTGCCAGTGAA	0.468000													22	19					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736815	4736815	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:4736815C>T	ENST00000545990.2	-	5	1777	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	AKAP3_ENST00000228850.1_Missense_Mutation_p.R418Q	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	418					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTTCACATTTCGGTTTTTAGG	0.423000													41	51					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640594	7640594	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:7640594C>T	ENST00000359156.4	-	7	1712	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	CD163_ENST00000432237.2_Missense_Mutation_p.D504N|CD163_ENST00000396620.3_Missense_Mutation_p.D504N|CD163_ENST00000541972.1_Missense_Mutation_p.D492N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	504	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAGTCCGAATCACAGATGGAG	0.527000													14	15					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056140	29056140	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:29056140C>T	ENST00000257189.4	+	16	3000	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	973					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCCAGTGTTCCTGGCAACCT	0.498000													48	59					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222581	27222581	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:27222581G>A	ENST00000230582.3	+	10	1275	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.Q163Q	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	420					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGTAGCCCAGGCTGTGGCTC	0.547000													61	99					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763521	62763521	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:62763521C>T	ENST00000336232.2	-	6	1000	c.865G>A	c.(865-867)Gga>Aga	p.G289R	SLC22A8_ENST00000535878.1_Missense_Mutation_p.G166R|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G198R|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G289R|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G289R	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	289					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGCCTTTCTCCCTCTTCCTTC	0.582000													30	42					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35370328	35370328	+	Missense_Mutation	SNP	C	C	T	rs143686793		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:35370328C>T	ENST00000378495.3	+	12	1450	c.1228C>T	c.(1228-1230)Ctc>Ttc	p.L410F	UNC13B_ENST00000378496.4_Missense_Mutation_p.L410F|UNC13B_ENST00000396787.1_Missense_Mutation_p.L422F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	410					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCGGAGGGCTCTATGGCAT	0.512000													20	8					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56119569	56119569	+	Splice_Site	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:56119569T>A	ENST00000416613.1	+	25	2677	c.2603_splice	c.e25-1	p.L869_splice	KTN1_ENST00000413890.2_Splice_Site_p.L846_splice|KTN1_ENST00000438792.2_Splice_Site_p.L869_splice|KTN1_ENST00000395308.1_Splice_Site_p.L846_splice|KTN1_ENST00000395311.1_Splice_Site_p.L846_splice|KTN1_ENST00000554507.1_Splice_Site_p.L164_splice|KTN1_ENST00000395309.3_Splice_Site_p.L869_splice|KTN1_ENST00000395314.3_Splice_Site_p.L869_splice			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	869					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TATTATCAGATTAAAAGGAAA	0.323000			T	RET	papillary thryoid								8	14					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19036064	19036064	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:19036064G>A	ENST00000263196.7	-	7	1142	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	DGCR2_ENST00000537045.1_Missense_Mutation_p.H258Y|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	299	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCCCCTCCATGGCAGGTGCAG	0.567000													137	197					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59147987	59147987	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:59147987A>G	ENST00000472487.1	-	8	768	c.729T>C	c.(727-729)agT>agC	p.S243S	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	243					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACAAGAGATCACTGCTAGAAT	0.378000													65	10					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054102	29054102	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:29054102G>A	ENST00000377173.2	-	1	988	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TACAGAAAAAGATTCTTGGCA	0.373000													13	35					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207643267	207643267	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:207643267G>A	ENST00000367057.3	+	6	1234	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	CR2_ENST00000458541.2_Missense_Mutation_p.V349I|CR2_ENST00000367059.3_Missense_Mutation_p.V349I|CR2_ENST00000367058.3_Missense_Mutation_p.V349I|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	349	Sushi 6.				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						TACTTCTGCGGTTCAGTGTCC	0.493000													37	27					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308647	140308647	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140308647G>A	ENST00000253807.2	+	1	2170	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D724N|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTACAGAGGATCTGAGGTA	0.453000													22	40					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108035946	108035946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:108035946C>T	ENST00000280758.5	+	14	3448	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Q511*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.Q974*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Q855*|BTBD11_ENST00000494235.2_Nonsense_Mutation_p.Q53*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	974	BTB.					integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCCATCTTTCAGGTGAGCCC	0.522000													15	25					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123264794	123264794	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:123264794G>A	ENST00000451558.1	+	10	1144	c.623G>A	c.(622-624)gGa>gAa	p.G208E	ASB15_ENST00000540573.1_Missense_Mutation_p.G208E|ASB15_ENST00000434204.1_Missense_Mutation_p.G208E|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.G208E|ASB15_ENST00000275699.3_Missense_Mutation_p.G208E			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	208					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTGAGAGATGGATTTGGAGTC	0.488000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159343	118159343	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:118159343C>T	ENST00000427715.2	+	5	509	c.75C>T	c.(73-75)ctC>ctT	p.L25L	SLC30A8_ENST00000456015.2_Silent_p.L74L|SLC30A8_ENST00000519688.1_Silent_p.L25L|SLC30A8_ENST00000521243.1_Silent_p.L25L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	74					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGTGGAAACTCTGTTCTGCTT	0.483000													123	152					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13068955	13068955	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:13068955G>A	ENST00000506447.1	+	25	5007	c.4927G>A	c.(4927-4929)Gga>Aga	p.G1643R	CEP192_ENST00000430049.2_Missense_Mutation_p.G1168R|CEP192_ENST00000325971.8_Missense_Mutation_p.G1047R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1238										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGCAAGAGCAGGAATAGCTAG	0.488000													34	52					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218761	165218761	+	Missense_Mutation	SNP	C	C	T	rs150222420		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:165218761C>T	ENST00000342310.3	-	4	762	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	LMX1A_ENST00000294816.2_Missense_Mutation_p.R127Q|LMX1A_ENST00000367893.4_Missense_Mutation_p.R127Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	127	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGAAGCTGTCGCTCGCAGAC	0.582000													23	63					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100957947	100957947	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:100957947G>A	ENST00000369162.2	-	41	6666	c.6322C>T	c.(6322-6324)Ccc>Tcc	p.P2108S		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2108	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTGATTTGGGAAATCGAGGA	0.358000													92	93					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269224	63269224	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:63269224G>A	ENST00000322893.7	-	9	1913	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	KCNH5_ENST00000394968.1_Missense_Mutation_p.P491S|KCNH5_ENST00000420622.2_Missense_Mutation_p.P549S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	549					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)		CGAAAAGCAGGATGTTCATTA	0.493000													13	25					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068433	48068433	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:48068433C>T	ENST00000297325.4	-	1	262	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.E35K	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	35						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGATTTTCGTCCTCTGAT	0.458000													21	43					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970799	151970799	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:151970799G>A	ENST00000355193.2	-	7	1221	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P335S					lysine (K)-specific methyltransferase 2C																		CATCTTTCAGGAGCTTGGTCA	0.383000													6	191					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840366	27840366	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:27840366G>A	ENST00000356790.2	+	3	1188	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	315										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ACAAGATGAGGAAGAGAGAGC	0.488000													15	2					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039382	11039382	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:11039382C>T	ENST00000470054.1	-	0	821									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)		ATTTTCATTTCTTCACTATCA	0.333000													12	167					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878510	5878510	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5878510G>A	ENST00000537935.1	-	1	454	c.423C>T	c.(421-423)atC>atT	p.I141I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGTGAGGATCATGGTGT	0.498000													77	108					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43146564	43146564	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43146564C>T	ENST00000265354.4	+	6	1733	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	SRF_ENST00000457278.2_Silent_p.L255L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	459					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCAGGTGTTCCTGACAGCATC	0.483000													119	85					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47369720	47369720	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:47369720G>A	ENST00000285039.7	-	34	4801	c.4502C>T	c.(4501-4503)cCc>cTc	p.P1501L	MYO5B_ENST00000324581.6_Missense_Mutation_p.P616L|MYO5B_ENST00000592688.1_Missense_Mutation_p.P71L|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1501					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATGTAGGCGGGGAGACAGGG	0.557000													27	27					0	0	1	0	0
CENPP	401541	broad.mit.edu	37	9	95094460	95094460	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:95094460T>C	ENST00000375587.3	+	2	631	c.116T>C	c.(115-117)tTt>tCt	p.F39S		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	39					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						AGAAAATCTTTTCAAGCCATA	0.333000													7	1					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77934491	77934491	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:77934491G>A	ENST00000361507.4	-	6	1619	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	GAB2_ENST00000340149.2_Missense_Mutation_p.P474S	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	512					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTTGACAGGGGGTGGCTGA	0.547000													53	72					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593379	47593379	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:47593379C>T	ENST00000273859.3	+	23	4531	c.4262C>T	c.(4261-4263)tCc>tTc	p.S1421F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1421					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCTGGACCCTCCAAAGGTAAA	0.433000													36	55					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36570032	36570032	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:36570032A>C	ENST00000431169.1	-	19	1814	c.1514T>G	c.(1513-1515)tTc>tGc	p.F505C	AOAH_ENST00000538464.1_Missense_Mutation_p.F227C|AOAH_ENST00000258749.5_Missense_Mutation_p.F505C|AOAH_ENST00000535891.1_Missense_Mutation_p.F473C	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	505					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACTTTCATGGAAGGCAAAATC	0.403000													12	24					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332461	22332461	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:22332461C>T	ENST00000558896.1	+	0	268																											CTGGGCCTATCATCTTCTTGG	0.368000													21	84					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815710	12815710	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:12815710C>T	ENST00000288048.5	+	2	388	c.172C>T	c.(172-174)Cca>Tca	p.P58S	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	58										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCCCTTCCCAGACCACAG	0.502000													31	25					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205065991	205065991	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:205065991G>A	ENST00000264515.6	-	12	1356	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	RBBP5_ENST00000367164.1_Silent_p.A405A	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	405					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTACCTCAGGGGCAATGGGTA	0.478000													35	118					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92264669	92264669	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:92264669C>T	ENST00000435962.2	-	7	1035	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	TC2N_ENST00000556018.1_Missense_Mutation_p.E238K|TC2N_ENST00000340892.5_Missense_Mutation_p.E238K|TC2N_ENST00000360594.5_Missense_Mutation_p.E238K	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	238						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CAGATCTGTTCTACTGAAGAA	0.303000													16	25					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845860	24845860	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:24845860C>T	ENST00000413692.2	+	10	2750	c.2606C>T	c.(2605-2607)tCt>tTt	p.S869F	NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.S819F|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000555590.1_Missense_Mutation_p.S819F|NFATC4_ENST00000422617.3_Missense_Mutation_p.S794F|NFATC4_ENST00000555393.1_Missense_Mutation_p.S94F|NFATC4_ENST00000250373.4_Missense_Mutation_p.S806F|NFATC4_ENST00000553708.1_Missense_Mutation_p.S806F|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555167.1_Missense_Mutation_p.S341F|NFATC4_ENST00000555802.1_Missense_Mutation_p.S94F|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.S341F|NFATC4_ENST00000557451.1_Missense_Mutation_p.S736F|NFATC4_ENST00000556279.1_Missense_Mutation_p.S838F|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.S794F|NFATC4_ENST00000539237.2_Missense_Mutation_p.S838F|NFATC4_ENST00000553879.1_Missense_Mutation_p.S736F|NFATC4_ENST00000554344.1_Missense_Mutation_p.S736F	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	806					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGCCATTCTCTCCGCCAGCC	0.642000													41	52					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701219	192701219	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:192701219C>T	ENST00000304141.4	-	2	1037	c.708G>A	c.(706-708)ctG>ctA	p.L236L		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	236						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCACTTTCTTCAGGCTGGATC	0.468000													76	89					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47866189	47866189	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:47866189C>T	ENST00000396105.1	-	14	3618	c.3372G>A	c.(3370-3372)gaG>gaA	p.E1124E	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.E1124E	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1124							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCTTTTGCCCTCTTGGATTT	0.468000													33	45					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25861613	25861613	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:25861613G>A	ENST00000376351.3	+	7	1909	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	517						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGGCTCAACGAATTCCATAT	0.408000													30	8					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660692	46660692	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:46660692A>G	ENST00000544460.1	+	1	5081	c.4827A>G	c.(4825-4827)gaA>gaG	p.E1609E	TDRD6_ENST00000316081.6_Silent_p.E1609E	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1609	Tudor 7.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAACATTGAAGACTGTGTGG	0.418000													40	48					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866304	118866304	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:118866304C>T	ENST00000295622.1	+	1	1308	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L	RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.P28L	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	423										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCCTACAACCCAGTTGATGCC	0.448000													17	32					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231222634	231222634	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:231222634C>T	ENST00000243810.6	+	3	222	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SP140L_ENST00000444636.1_Silent_p.F74F|SP140L_ENST00000458341.1_5'UTR|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000396563.4_Silent_p.F74F|SP140L_ENST00000415673.2_Silent_p.F74F			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	74	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CATTTCCATTCCTTGAGGGCC	0.373000													61	76					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129221700	129221700	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:129221700A>T	ENST00000296266.3	+	21	2867	c.2675A>T	c.(2674-2676)cAc>cTc	p.H892L	IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.H691L|IFT122_ENST00000504021.1_Missense_Mutation_p.H717L|IFT122_ENST00000507564.1_Missense_Mutation_p.H833L|IFT122_ENST00000347300.2_Missense_Mutation_p.H782L|IFT122_ENST00000349441.2_Missense_Mutation_p.H730L|IFT122_ENST00000440957.2_Missense_Mutation_p.H632L|IFT122_ENST00000348417.2_Missense_Mutation_p.H841L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	841					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTGCAGCTGCACGTGGAGACC	0.647000													19	28					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82437561	82437561	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:82437561T>A	ENST00000370728.1	+	19	3613	c.2968T>A	c.(2968-2970)Ttt>Att	p.F990I	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.F977I|LPHN2_ENST00000370725.1_Missense_Mutation_p.F990I|LPHN2_ENST00000370721.1_Missense_Mutation_p.F915I|LPHN2_ENST00000370730.1_Missense_Mutation_p.F990I|LPHN2_ENST00000319517.6_Missense_Mutation_p.F977I|LPHN2_ENST00000394879.1_Missense_Mutation_p.F977I|LPHN2_ENST00000271029.4_Missense_Mutation_p.F990I|LPHN2_ENST00000335786.5_Missense_Mutation_p.F990I|LPHN2_ENST00000370713.1_Missense_Mutation_p.F977I|LPHN2_ENST00000370727.1_Missense_Mutation_p.F990I|LPHN2_ENST00000359929.3_Missense_Mutation_p.F977I|LPHN2_ENST00000370717.2_Missense_Mutation_p.F990I|LPHN2_ENST00000370723.1_Missense_Mutation_p.F977I			O95490	LPHN2_HUMAN	latrophilin 2	990					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)		TGATAACTACTTTATATGGAG	0.353000													12	20					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694934	219694934	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:219694934C>T	ENST00000439262.2	-	4	420	c.325G>A	c.(325-327)Gag>Aag	p.E109K	PRKAG3_ENST00000392098.3_Missense_Mutation_p.E134K|PRKAG3_ENST00000529249.1_Missense_Mutation_p.E134K|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	134					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGCCAGCTCCACATCATCT	0.642000													17	22					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91228254	91228254	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:91228254C>T	ENST00000369329.3	-	16	1713	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_Intron|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E172K|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E491K	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	518					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCCATAGATTCTTTGGAGTTT	0.318000													12	15					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119188178	119188178	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:119188178C>T	ENST00000313400.4	-	23	4072	c.3972G>A	c.(3970-3972)aaG>aaA	p.K1324K	ASTN2_ENST00000373996.3_Silent_p.K1320K|ASTN2_ENST00000288520.5_Silent_p.K425K|ASTN2_ENST00000341734.4_Silent_p.K376K|ASTN2_ENST00000361209.2_Silent_p.K1273K|ASTN2_ENST00000361477.3_Silent_p.K376K			O75129	ASTN2_HUMAN	astrotactin 2	1324						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						TTGACACCATCTTCTCCTCAC	0.582000													17	3					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919578	48919578	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:48919578T>A	ENST00000310194.1	+	1	164	c.164T>A	c.(163-165)cTc>cAc	p.L55H	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	55					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						GATTCTTGTCTCCATAAGCCC	0.483000													44	59					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49935521	49935521	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:49935521G>A	ENST00000296474.3	-	5	1870	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S	MST1R_ENST00000344206.4_Missense_Mutation_p.P615S	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	615	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGCCGGCAGGGACTTTGGCCC	0.592000													27	35					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159557917	159557917	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:159557917C>T	ENST00000255040.2	+	2	188	c.91C>T	c.(91-93)Cct>Tct	p.P31S		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	31	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.P31S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GTTTGTATTTCCTAGAGAATC	0.408000													56	51					0	0	1	0	0
SLC38A6	145389	broad.mit.edu	37	14	61518625	61518625	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:61518625A>T	ENST00000354886.2	+	14	1335	c.1171A>T	c.(1171-1173)Att>Ttt	p.I391F	SLC38A6_ENST00000267488.4_Missense_Mutation_p.I391F|SLC38A6_ENST00000456840.2_Missense_Mutation_p.I368F	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	391					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGTTCCTGACATTAGAAATGT	0.328000													7	24					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74719425	74719425	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:74719425G>A	ENST00000308807.7	-	5	1242	c.779C>T	c.(778-780)cCc>cTc	p.P260L	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	260	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CAGGATGTTGGGAGATTCGAA	0.403000													10	18					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219672	126219672	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:126219672C>T	ENST00000290868.2	-	11	1064	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	UROC1_ENST00000383579.3_Silent_p.V397V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	337					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACCCCAGGTCCACCAAGCACT	0.632000													18	26					0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5545488	5545488	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:5545488C>T	ENST00000324331.6	+	5	1316	c.980C>T	c.(979-981)cCt>cTt	p.P327L	FARS2_ENST00000274680.4_Missense_Mutation_p.P327L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	327					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TACGACATCCCTGATATCCGT	0.468000													48	126					0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416899	57416899	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:57416899C>T	ENST00000565912.1	+	2	3741	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	CX3CL1_ENST00000563383.1_Silent_p.I389I|CX3CL1_ENST00000006053.6_Silent_p.I383I			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	383					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTCGCTACATCCCCCGGAGCT	0.587000													45	63					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155014062	155014062	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:155014062G>A	ENST00000295542.1	+	7	817	c.721G>A	c.(721-723)Gag>Aag	p.E241K	DCST1_ENST00000423025.2_Missense_Mutation_p.E216K|DCST1_ENST00000368419.2_Missense_Mutation_p.E241K|DCST1_ENST00000392480.1_Missense_Mutation_p.E241K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	241						integral to membrane	zinc ion binding	p.E241Q(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAGATGTATGAGCTGAAGAC	0.617000													55	42					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210952	126210952	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:126210952A>T	ENST00000368357.3	+	10	2104	c.1752A>T	c.(1750-1752)aaA>aaT	p.K584N	NCOA7_ENST00000392477.2_Missense_Mutation_p.K584N|NCOA7_ENST00000229634.9_Missense_Mutation_p.K469N	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	584					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CCTGGGTGAAAAAGGGAGAGC	0.468000													34	25					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031117	21031117	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:21031117C>T	ENST00000247986.2	-	5	1256	c.946G>A	c.(946-948)Gac>Aac	p.D316N	KIF17_ENST00000400463.3_Missense_Mutation_p.D316N|KIF17_ENST00000375044.1_Missense_Mutation_p.D216N			Q9P2E2	KIF17_HUMAN	kinesin family member 17	316					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TAGTTGTTGTCCGCAGGCGAC	0.612000													46	13					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237604755	237604755	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:237604755C>T	ENST00000366574.2	+	13	1459	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RYR2_ENST00000542537.1_Missense_Mutation_p.S365F|RYR2_ENST00000360064.6_Missense_Mutation_p.S379F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	381	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACGTGAAATCCGTGAGAATG	0.353000													63	50					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685552	125685552	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:125685552C>T	ENST00000371126.1	-	1	1282	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	347										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						GCCACCCTCTCGAGAACACAG	0.612000													25	4					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139724587	139724587	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:139724587A>G	ENST00000263549.3	-	12	2752	c.1879T>C	c.(1879-1881)Ttc>Ctc	p.F627L		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	627	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCCCTGACGAACTCGCCCACC	0.602000													16	39					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896481	89896481	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:89896481G>A	ENST00000534061.1	+	10	1309	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	NAALAD2_ENST00000525171.1_Missense_Mutation_p.R267K|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R327K|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	360	NAALADase.				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)				TTTCCAGACAGGTATGTTATT	0.378000													48	76					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108600113	108600113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:108600113C>T	ENST00000332082.4	+	4	1248	c.430C>T	c.(430-432)Cga>Tga	p.R144*	WSCD2_ENST00000261400.3_Nonsense_Mutation_p.R144*|WSCD2_ENST00000549903.1_Nonsense_Mutation_p.R144*|WSCD2_ENST00000547525.1_Nonsense_Mutation_p.R144*			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	144	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCGGGCCCTTCGAGGAGTGTC	0.522000													24	42					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102286	66102286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:66102286G>A	ENST00000349533.6	+	20	3271	c.3086G>A	c.(3085-3087)tGg>tAg	p.W1029*	LEPR_ENST00000406510.3_Nonsense_Mutation_p.W96*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1029					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATAGCTCATGGGAGATAGAG	0.388000													51	61					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:20248603G>A	ENST00000315957.4	+	1	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000													76	90					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202580434	202580434	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:202580434G>A	ENST00000264276.6	-	25	4337	c.3965C>T	c.(3964-3966)gCt>gTt	p.A1322V	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1322					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CAAGGCCACAGCAATATTGTC	0.532000													56	62					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43516013	43516013	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43516013G>A	ENST00000265351.7	-	18	2255	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	682					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CATGTCTTGAGAAAGCCAGAT	0.502000													60	118					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214549624	214549624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:214549624G>A	ENST00000366956.5	-	15	3039	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	949	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGCTCTACTCGATTCTCCTCA	0.458000													50	27					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102103	29102103	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:29102103C>T	ENST00000261590.8	+	6	790	c.581C>T	c.(580-582)tCg>tTg	p.S194L	DSG2_ENST00000585206.1_Missense_Mutation_p.S194L	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	194	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACCCTGAATTCGAAAATTTCC	0.363000													13	24					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767428	88767428	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:88767428C>T	ENST00000497649.2	+	6	1714	c.1336C>T	c.(1336-1338)Cat>Tat	p.H446Y	MEPE_ENST00000424957.3_Missense_Mutation_p.H470Y|MEPE_ENST00000540395.1_Missense_Mutation_p.H357Y|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.H357Y|MEPE_ENST00000361056.3_Missense_Mutation_p.H470Y|MEPE_ENST00000395102.4_Missense_Mutation_p.H501Y			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	470					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CAGAAAATATCATTATGTACC	0.418000													21	33					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21896825	21896825	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:21896825G>A	ENST00000374840.3	+	8	1070	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	ALPL_ENST00000374832.1_Missense_Mutation_p.E274K|ALPL_ENST00000374830.1_5'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.E274K|ALPL_ENST00000540617.1_Missense_Mutation_p.E219K|ALPL_ENST00000539907.1_Missense_Mutation_p.E197K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	274					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAACCGCACGGAACTCCTGAC	0.617000													20	27					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024487	55024487	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:55024487G>A	ENST00000324000.3	+	3	2680	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	216					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAGCATCCTGGAAAAATATTA	0.408000													18	33					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152108	66152108	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:66152108C>T	ENST00000489520.2	-	0	835					NR_026825.2																						CCCTGAAATTCCTTCTTGGTC	0.478000													4	6					0	0	1	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131694	151131694	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:151131694G>A	ENST00000368910.3	+	2	647	c.521G>A	c.(520-522)gGa>gAa	p.G174E		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	174					innate immune response					lung(1)|skin(2)	3	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)			ATCTGTGACGGACTCAGGAAG	0.542000													24	15					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786132	112786132	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:112786132C>T	ENST00000295408.4	+	19	2948	c.2691C>T	c.(2689-2691)atC>atT	p.I897I	MERTK_ENST00000421804.2_Silent_p.I897I|MERTK_ENST00000409780.1_Silent_p.I721I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	897					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACTTGAACATCGACCCTGACT	0.542000													48	74					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76498990	76498990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:76498990C>T	ENST00000389840.5	-	32	5172	c.5048G>A	c.(5047-5049)tGg>tAg	p.W1683*	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W1684*					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)			GTCCAGGATCCACTGCTCCCT	0.627000													14	23					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292897	43292897	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:43292897C>T	ENST00000374518.4	+	11	2078	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	672					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGACCTTTCCAGAAAGGCA	0.493000													44	16					0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128692114	128692114	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:128692114C>T	ENST00000373487.4	+	4	777	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000447726.2_Missense_Mutation_p.L158F|PBX3_ENST00000373489.5_Missense_Mutation_p.L233F|PBX3_ENST00000342287.5_Missense_Mutation_p.L233F|PBX3_ENST00000373483.2_Missense_Mutation_p.L52F			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	233					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ATCAAGGTTCCTTGATGCCAG	0.403000													19	9					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587654	55587654	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55587654C>T	ENST00000333976.4	+	1	569	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTGAGTTCTCCTCACTACTCT	0.423000													38	56					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900710	151900710	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151900710G>A	ENST00000393900.3	-	3	444	c.91C>T	c.(91-93)Cct>Tct	p.P31S	MAGEA12_ENST00000357916.4_Missense_Mutation_p.P31S|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P31S|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	31										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTAGCAGGAGCCTGCGCA	0.622000													25	9					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35086390	35086390	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:35086390C>T	ENST00000382002.5	-	4	549	c.123G>A	c.(121-123)aaG>aaA	p.K41K	PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Silent_p.K41K|PRLR_ENST00000310101.5_Silent_p.K41K|PRLR_ENST00000513753.1_Silent_p.K41K|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Silent_p.K41K|PRLR_ENST00000231423.3_Silent_p.K41K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	41	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGAATGTTTCCTTATTGGGAG	0.458000													22	33					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418961	53418961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:53418961G>A	ENST00000377942.3	-	3	3150	c.2947C>T	c.(2947-2949)Cag>Tag	p.Q983*	PCDH8_ENST00000338862.4_Nonsense_Mutation_p.Q886*	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	983					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GTTGACATCTGGGCTGGTGGG	0.627000													26	57					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147561	26147561	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:26147561G>A	ENST00000331351.5	+	2	1755	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	455					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGAAGAGGGTGATAAATGAGG	0.468000													10	16					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854128	40854128	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:40854128C>T	ENST00000254691.5	+	3	2893	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	898					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACCCTCAGTCCTTTCAACCAG	0.483000													34	53					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801114	39801114	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:39801114G>A	ENST00000564288.1	+	37	9631	c.8854G>A	c.(8854-8856)Gaa>Aaa	p.E2952K	MACF1_ENST00000372915.3_Missense_Mutation_p.E2957K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2989K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1392K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2957					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACATATTGTGAAACGTCAGG	0.393000													30	4					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136463	21136463	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:21136463G>A	ENST00000269228.5	-	8	1624	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S107L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	357					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)					GAAGACCAGCGAGAAGAAAAT	0.587000													14	16					0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149855853	149855853	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:149855853G>A	ENST00000253329.2	-	6	554	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	174					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATCGATCAGGGATTAATAAAT	0.303000													26	36					0	0	1	0	0
C18orf21	83608	broad.mit.edu	37	18	33558943	33558943	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:33558943T>C	ENST00000592875.1	+	5	1283	c.637T>C	c.(637-639)Tct>Cct	p.S213P	C18orf21_ENST00000333234.5_Missense_Mutation_p.S125P	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	213										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						TTTCTTATCTTCTCTGAAGGG	0.313000													18	23					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26399266	26399266	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:26399266G>A	ENST00000335473.7	+	41	6573	c.6323G>A	c.(6322-6324)cGa>cAa	p.R2108Q	MYO18B_ENST00000407587.2_Missense_Mutation_p.R2109Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2108Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2108						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						AGCAGCGGCCGAAAAGAGATG	0.532000													7	9					0	0	1	0	0
CCL27	10850	broad.mit.edu	37	9	34662354	34662354	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:34662354C>A	ENST00000259631.4	-	2	188	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	44					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AGTAGCTTGTCTGAGAGTGGC	0.582000													21	2					6.21321e-17	6.29897e-17	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13715852	13715852	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:13715852G>A	ENST00000279593.3	-	13	4529	c.4320C>T	c.(4318-4320)gcC>gcT	p.A1440A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1440					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)	TCTGGAAACGGGCTGGCACGG	0.612000													36	32					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207778	81207778	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:81207778G>A	ENST00000312465.7	+	3	985	c.759G>A	c.(757-759)cgG>cgA	p.R253R	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	253					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTGCACCTCGGAAAAATACCA	0.438000													21	27					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43489561	43489561	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:43489561A>T	ENST00000300215.3	-	13	2562	c.2105T>A	c.(2104-2106)aTg>aAg	p.M702K	EPB42_ENST00000441366.2_Missense_Mutation_p.M672K|EPB42_ENST00000540029.1_Missense_Mutation_p.M594K|EPB42_ENST00000563128.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	672					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTTCTGGAACATGTTGCAGTC	0.502000													27	46					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210414989	210414989	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:210414989C>T	ENST00000367012.3	+	4	608	c.378C>T	c.(376-378)ctC>ctT	p.L126L	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	126	SERTA.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		AAGTGTACCTCCGAAGATCTG	0.393000													30	64					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027681	161027681	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161027681G>A	ENST00000447678.1	-	18	2733	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	LPA_ENST00000316300.5_Silent_p.I871I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3379	Kringle 8.				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)	AGTAGTTCATGATCAAGCCAC	0.507000													54	90					0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20889667	20889667	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:20889667G>A	ENST00000383233.3	-	14	859	c.807C>T	c.(805-807)atC>atT	p.I269I	TMEM241_ENST00000450466.2_Silent_p.I148I|TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000475185.1_5'UTR	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	269						integral to membrane											CACTGGTCAGGATCGCATCAA	0.398000													20	39					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35086152	35086152	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:35086152T>C	ENST00000311875.5	-	10	1862	c.1445A>G	c.(1444-1446)aAc>aGc	p.N482S	TCP11_ENST00000244645.3_Missense_Mutation_p.N407S|TCP11_ENST00000512012.1_Missense_Mutation_p.N469S|TCP11_ENST00000412155.2_Missense_Mutation_p.N431S|TCP11_ENST00000373974.4_Missense_Mutation_p.N436S|TCP11_ENST00000418521.2_Missense_Mutation_p.N406S|TCP11_ENST00000444780.2_Missense_Mutation_p.N477S|TCP11_ENST00000373979.2_Missense_Mutation_p.N407S			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	469					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ATGTGTCAAGTTGACAAACTT	0.483000													53	116					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72691212	72691212	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:72691212C>A	ENST00000341689.3	+	2	354	c.300C>A	c.(298-300)aaC>aaA	p.N100K	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	100						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTTATGCAACCATGAGCTGT	0.537000													4	137					0.150653	0.150756	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536947	27536947	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:27536947C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GAGCCTATCTCCATCTTGCAC	0.363000													14	7					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249272	52249272	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:52249272C>T	ENST00000595042.1	-	3	1117	c.976G>A	c.(976-978)Gag>Aag	p.E326K	FPR1_ENST00000304748.4_Missense_Mutation_p.E326K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	326					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTTGAGTCCTCGGTCAGGGCC	0.572000													127	15					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499177	65499177	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:65499177C>T	ENST00000261883.4	-	4	533	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	123					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCCGCTGCTCCCTGTTGAGG	0.642000													31	80					0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99771509	99771509	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:99771509G>A	ENST00000292377.2	-	5	1008	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	281						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGACAGCCACGAACCACGTTG	0.627000													90	128					0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68057103	68057103	+	Translation_Start_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:68057103C>T	ENST00000332395.5	-	1	667	c.3G>A	c.(1-3)atG>atA	p.M1I	DUS2L_ENST00000565263.1_5'UTR	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	1						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GCGTTAGAGCCATGTTTCCCT	0.682000													8	11					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012637	107012637	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:107012637G>A	ENST00000369701.3	+	23	3437	c.3210G>A	c.(3208-3210)agG>agA	p.R1070R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1070						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)		CAGAGAGGAGGAAAGGCAATG	0.527000													26	6					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75184934	75184934	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:75184934G>A	ENST00000417775.1	-	5	891	c.387C>T	c.(385-387)atC>atT	p.I129I	CRYZ_ENST00000370872.3_Intron|CRYZ_ENST00000340866.5_Silent_p.I129I|CRYZ_ENST00000370871.3_Silent_p.I129I	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	129					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	ATGGAATGCCGATGGCAGCTC	0.443000													40	6					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531783	71531783	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:71531783C>T	ENST00000393330.2	-	9	946	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	TSPAN8_ENST00000546561.1_Missense_Mutation_p.G132R|TSPAN8_ENST00000247829.3_Missense_Mutation_p.G132R|TSPAN8_ENST00000552128.1_Missense_Mutation_p.G49R			P19075	TSN8_HUMAN	tetraspanin 8	132					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCACTTTCCCCTGTGGCGCTC	0.348000													134	207					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374479	113374479	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:113374479G>A	ENST00000316407.4	-	7	6460	c.6050C>T	c.(6049-6051)tCt>tTt	p.S2017F	KIAA2018_ENST00000478658.1_Missense_Mutation_p.S2017F|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	2017					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						GCCACCAGTAGAGAGAGGAAG	0.458000													11	28					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	86996198	86996198	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:86996198C>T	ENST00000398399.2	-	4	1320	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTCCTTACTCTTGTCTTGAT	0.383000													18	36					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964901	32964901	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:32964901G>A	ENST00000321639.5	+	10	2933	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	869						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAACCCGCTGGAAACCGTGCC	0.701000													11	11					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39856456	39856456	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:39856456T>C	ENST00000538976.1	+	17	2244	c.2060_splice	c.e17-1	p.L688_splice	DAAM2_ENST00000274867.4_Splice_Site_p.L688_splice|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000398904.2_Splice_Site_p.L688_splice|RP11-61I13.3_ENST00000607675.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	688	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTGCCTTAGGTTGAAGCTTTC	0.542000													18	36					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107102704	107102704	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:107102704C>T	ENST00000369046.4	+	8	1053	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	317					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TGAAGTATCCCTTCCTCACAC	0.423000													35	38					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678637	100678637	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100678637G>A	ENST00000306151.4	+	3	4004	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1314	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)					CACTTCTAATGAAGTCAGTTC	0.463000													69	119					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529600	5529600	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5529600G>A	ENST00000311659.4	-	2	1336	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	397										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTCCTCGGGGAGAGGCTGG	0.572000													58	75					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729419	74729419	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:74729419G>A	ENST00000308807.7	-	2	700	c.237C>T	c.(235-237)ttC>ttT	p.F79F	MLKL_ENST00000306247.7_Silent_p.F79F	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	79							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ATCTATTGCTGAACTTTTCTA	0.493000													51	50					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686156	125686156	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:125686156C>T	ENST00000371126.1	-	1	678	c.436G>A	c.(436-438)Gac>Aac	p.D146N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	146										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						CCCTGTTGGTCCTGGGCCAGC	0.632000													16	6					0	0	1	0	0
LCN10	414332	broad.mit.edu	37	9	139635432	139635432	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:139635432G>C	ENST00000474369.1	-	3	291	c.292C>G	c.(292-294)Ccg>Gcg	p.P98A	LCN6_ENST00000435202.1_Intron|LCN10_ENST00000527229.1_Intron|LCN10_ENST00000497771.1_Intron			Q6JVE6	LCN10_HUMAN	lipocalin 10	98					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CTGGTTCCCGGATGGCGTGGC	0.657000													2	0					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435844	179435844	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179435844G>A	ENST00000589042.1	-	326	75239	c.75015C>T	c.(75013-75015)gaC>gaT	p.D25005D	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.D16132D|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.D16065D|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.D22437D|TTN_ENST00000460472.2_Silent_p.D15940D|TTN_ENST00000591111.1_Silent_p.D23364D|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23364	Ig-like 123.						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)			GATCACATGGGTCACGAGCCA	0.473000													52	71					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59080695	59080695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:59080695C>A	ENST00000215057.2	-	5	1281	c.721G>T	c.(721-723)Gag>Tag	p.E241*	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Nonsense_Mutation_p.E241*|MZF1_ENST00000599369.1_Nonsense_Mutation_p.E241*|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Nonsense_Mutation_p.E241*	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	241					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CTGGGGTGCTCCCTCCATGAG	0.607000													18	36					3.32936e-07	3.34759e-07	1	1	0
TRIM69	140691	broad.mit.edu	37	15	45059941	45059941	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:45059941G>A	ENST00000558173.1	+	5	5607	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	TRIM69_ENST00000558329.1_Missense_Mutation_p.E271K|TRIM69_ENST00000560442.1_Missense_Mutation_p.E288K|TRIM69_ENST00000559390.1_Missense_Mutation_p.E492K|TRIM69_ENST00000561043.1_Missense_Mutation_p.E255K|TRIM69_ENST00000338264.4_Missense_Mutation_p.E333K|TRIM69_ENST00000329464.4_Missense_Mutation_p.E492K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	492					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGAGAATAAAGAACCATTGCA	0.358000													13	37					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109883350	109883350	+	Silent	SNP	G	G	A	rs150785768		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:109883350G>A	ENST00000256637.6	-	10	1318	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	SORT1_ENST00000538502.1_Silent_p.S283S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	420					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACTCACCTTCGGAGAGCACGC	0.557000													108	137					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54497798	54497798	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:54497798G>A	ENST00000375135.3	-	2	1163	c.430C>T	c.(430-432)Cct>Tct	p.P144S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	144	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGCTGGCTAGGGGTTTCAGTC	0.612000													23	10					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5556488	5556488	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:5556488G>A	ENST00000379019.4	-	9	1054	c.842C>T	c.(841-843)tCc>tTc	p.S281F	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	281					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTTTTCCGGGAATTTCTGCT	0.393000													23	36					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939406	22939406	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:22939406C>T	ENST00000397104.3	-	7	2764	c.2765G>A	c.(2764-2766)gGc>gAc	p.G922D						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)				AAAAGCTTTGCCACATTCTTC	0.363000													33	4					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760034	167760034	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:167760034G>A	ENST00000409195.1	+	2	131	c.42G>A	c.(40-42)caG>caA	p.Q14Q	XIRP2_ENST00000295237.9_Silent_p.Q14Q|XIRP2_ENST00000420519.1_Silent_p.Q14Q|XIRP2_ENST00000409728.1_Silent_p.Q14Q|XIRP2_ENST00000409756.2_Silent_p.Q14Q|XIRP2_ENST00000409043.1_Silent_p.Q14Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						TCCTGAGGCAGAAATGGGAAT	0.473000													19	30					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220375673	220375673	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:220375673A>G	ENST00000358951.2	-	9	872	c.756T>C	c.(754-756)gcT>gcC	p.A252A		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	252					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ATTTCTTATAAGCTAATGGTG	0.323000													39	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179622408	179622408	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179622408G>A	ENST00000589042.1	-	45	10763	c.10539C>T	c.(10537-10539)ttC>ttT	p.F3513F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Silent_p.F3467F|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3194	Ig-like 21.						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)			CCTCAAAATGGAAAACTACAT	0.448000													35	49					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752674	141752674	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:141752674G>A	ENST00000475668.2	+	26	3103	c.3049G>A	c.(3049-3051)Gct>Act	p.A1017T	MGAM_ENST00000549489.2_Missense_Mutation_p.A1017T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1017					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)	TGGGGCCACAGCTGACATCTC	0.458000													53	56					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3253834	3253834	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:3253834G>A	ENST00000520002.1	-	18	3033	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	CSMD1_ENST00000602723.1_Silent_p.I826I|CSMD1_ENST00000400186.3_Silent_p.I826I|CSMD1_ENST00000602557.1_Silent_p.I826I|CSMD1_ENST00000542608.1_Silent_p.I825I|CSMD1_ENST00000539096.1_Silent_p.I825I|CSMD1_ENST00000537824.1_Silent_p.I825I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	826	CUB 5.					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)		GGTACTCGCCGATCAGTGGGG	0.537000													3	7					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94520757	94520757	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:94520757C>T	ENST00000370225.3	-	16	2583	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E759K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	833					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)		AAGCTGAATTCGTCCCCTTCC	0.537000													42	7					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63246518	63246518	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:63246518G>A	ENST00000322893.7	-	10	2215	c.1947C>T	c.(1945-1947)gtC>gtT	p.V649V	KCNH5_ENST00000394968.1_Silent_p.V591V|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	649					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)		AAAAGTCCAGGACTTTGAGCA	0.478000													25	47					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103377722	103377722	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:103377722C>T	ENST00000358392.2	-	54	4432	c.4115G>A	c.(4114-4116)gGa>gAa	p.G1372E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1321E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1244E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1360E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1360	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACTCGTTTTCCAGGAGGACC	0.383000													12	4					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539173	41539173	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:41539173G>A	ENST00000400454.1	-	16	3467	c.2990C>T	c.(2989-2991)tCa>tTa	p.S997L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	997	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTCTGAGATGATATAGGCTC	0.517000													27	30					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76873905	76873905	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:76873905G>A	ENST00000409709.3	+	14	1833	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	MYO7A_ENST00000458637.2_Missense_Mutation_p.D521N|MYO7A_ENST00000409893.1_Missense_Mutation_p.D521N|MYO7A_ENST00000409619.2_Missense_Mutation_p.D510N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	521	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						CCAGGGCACAGACACCACCAT	0.582000													45	45					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95089958	95089958	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:95089958A>G	ENST00000553947.1	+	8	2042	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	SERPINA3_ENST00000393080.4_Missense_Mutation_p.K360R|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K142R|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K360R|SERPINA3_ENST00000467132.1_Missense_Mutation_p.K360R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	360	RCL.				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)		GTGGTCCATAAGGCTGTGCTT	0.522000													23	37					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216181	131216181	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:131216181G>A	ENST00000337057.3	-	9	1496	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	EPB41L2_ENST00000445890.2_Missense_Mutation_p.R439C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R439C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R439C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R439C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R439C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	439	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAAGCAAAACGATTGATTCGC	0.413000													32	39					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75862300	75862300	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:75862300G>A	ENST00000370855.5	-	3	133	c.20C>T	c.(19-21)cCa>cTa	p.P7L	SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P7L|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	7						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGTATCTGCTGGTTTTTCTAG	0.368000													53	8					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:59112065C>T	ENST00000589222.1	+	17	1744	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|BCAS3_ENST00000390652.5_Missense_Mutation_p.S574L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	574						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348000													22	33					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271909	22271909	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:22271909C>T	ENST00000594947.1	+	4	1501	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGATAATTCATACTGGAGA	0.393000													27	5					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279172	47279172	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:47279172G>A	ENST00000271153.4	+	5	550	c.514G>A	c.(514-516)Gct>Act	p.A172T	CYP4B1_ENST00000371919.4_Missense_Mutation_p.A157T|CYP4B1_ENST00000452782.2_Missense_Mutation_p.A9T|CYP4B1_ENST00000371923.4_Missense_Mutation_p.A172T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	172					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGAAGAGAAAGCTCGGGAGGG	0.572000													15	24					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799163	5799163	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	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													26	32					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284895	223284895	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:223284895G>A	ENST00000540964.1	-	4	1940	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	TLR5_ENST00000342210.6_Silent_p.L493L			O60602	TLR5_HUMAN	toll-like receptor 5	493			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	p.L493L(1)		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)		CATCCCAACAGAGCTCAGTTT	0.423000													44	28					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905870	54905870	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:54905870C>T	ENST00000293373.6	+	9	1001	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Silent_p.L258L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	308					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CACCGAGGACCTGTTTAGCAG	0.498000													16	20					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95869074	95869074	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:95869074C>T	ENST00000523731.1	+	15	1955	c.1822C>T	c.(1822-1824)Cgt>Tgt	p.R608C	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.R608C	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	608					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACCGAAGCTTCGTCAGGTCAT	0.468000													225	332					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584581	138584581	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:138584581G>A	ENST00000251691.4	+	12	2127	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	654	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R583Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGGTCCCTGCGAACTGCCGCC	0.617000													36	56					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73444715	73444715	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:73444715G>A	ENST00000556143.1	-	8	2275	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C	ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.R104C|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R519C|ZFYVE1_ENST00000318876.5_Intron|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.R104C	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	519						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGCCGACTACGATAGACCACG	0.498000													31	30					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97969651	97969651	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:97969651C>T	ENST00000224337.5	-	9	830	c.689G>A	c.(688-690)gGg>gAg	p.G230E	BLNK_ENST00000427367.2_Missense_Mutation_p.G230E|BLNK_ENST00000371176.2_Missense_Mutation_p.G207E|BLNK_ENST00000413476.2_Missense_Mutation_p.G230E	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	230	Pro-rich.				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)		TTCCCAGGCCCCACTGTTTCG	0.587000													50	15					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045742	124045742	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:124045742G>A	ENST00000368994.2	+	5	618	c.367G>A	c.(367-369)Gag>Aag	p.E123K	BTBD16_ENST00000260723.4_Missense_Mutation_p.E122K			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	122										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCCCCTGAGGGAGCTGGAGGA	0.597000													47	17					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169172115	169172115	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:169172115C>T	ENST00000393743.3	-	28	4139	c.3848G>A	c.(3847-3849)gGa>gAa	p.G1283E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1283	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCTAAGATATCCTTTTCTAAA	0.333000													16	15					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102694	168102694	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:168102694G>A	ENST00000409195.1	+	9	4881	c.4792G>A	c.(4792-4794)Gaa>Aaa	p.E1598K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1598K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1376K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1423					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						GATACAGAAAGAAGAAATTAT	0.393000													15	16					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028470	102028470	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:102028470C>T	ENST00000359323.3	+	1	783	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	DIO3_ENST00000510508.4_Missense_Mutation_p.P213S	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	187					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CACGGACTCTCCCTACATCAT	0.637000													43	70					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57415351	57415351	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:57415351T>G	ENST00000543257.1	-	7	1151	c.585A>C	c.(583-585)aaA>aaC	p.K195N	C8B_ENST00000535057.1_Missense_Mutation_p.K185N|C8B_ENST00000371237.4_Missense_Mutation_p.K247N	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	247	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						TGCTTGCCATTTTCTCTGTGA	0.343000													16	15					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617356	158617356	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158617356T>A	ENST00000368148.3	-	27	4049	c.3869A>T	c.(3868-3870)aAa>aTa	p.K1290I	SPTA1_ENST00000368147.3_Missense_Mutation_p.K1290I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1290					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)					CAGGTAGAATTTCTGGGCCTC	0.537000													87	61					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53861171	53861171	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:53861171C>T	ENST00000541275.1	+	13	1430	c.881C>T	c.(880-882)tCg>tTg	p.S294L	PCBP2_ENST00000546463.1_Intron|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000603815.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000552296.2_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000439930.3_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000437231.1_Intron			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	0	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AAACAAACTTCGTTATCCAGC	0.428000													14	9					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340378	55340378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55340378C>T	ENST00000314634.3	+	1	775	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	259			L -> P (in dbSNP:rs559449).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTACACATGCCTTGCAACCGT	0.403000													16	28					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277080	160277080	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:160277080C>T	ENST00000264431.4	+	23	4663	c.4244C>T	c.(4243-4245)cCa>cTa	p.P1415L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1415					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACTGACTTTCCAGAAGGGCAC	0.587000													3	5					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18054713	18054713	+	Silent	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:18054713A>C	ENST00000205890.5	+	40	7997	c.7659A>C	c.(7657-7659)tcA>tcC	p.S2553S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2553	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACAGCTTCACCCTCCCCAG	0.617000													17	33					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981488	70981488	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:70981488T>G	ENST00000276594.2	-	2	809	c.608A>C	c.(607-609)cAc>cCc	p.H203P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGAACGAAGTGCAGGTCCTC	0.602000													25	39					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98216779	98216779	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:98216779C>T	ENST00000427338.1	+	1	332	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAGAGAACTTCTTTTCTGAGG	0.443000													66	105					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318280	109318280	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:109318280C>T	ENST00000356711.2	+	2	135	c.9C>T	c.(7-9)atC>atT	p.I3I	MYO16_ENST00000357550.2_Silent_p.I3I|MYO16_ENST00000251041.5_Silent_p.I3I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	3					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGATGGAAATCGACCAGTGCT	0.493000													19	42					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716965	13716965	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:13716965G>A	ENST00000279593.3	-	13	3416	c.3207C>T	c.(3205-3207)acC>acT	p.T1069T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1069					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)	TGTTCCCATAGGTGACGGTGT	0.572000													7	29					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37597932	37597932	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:37597932C>T	ENST00000399151.3	+	12	1525	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	480					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGCTCTGCGCCCTCCTGGTCT	0.522000													16	19					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078617	133078617	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:133078617G>A	ENST00000326499.6	-	2	406	c.282C>T	c.(280-282)ttC>ttT	p.F94F	VNN2_ENST00000525270.1_Silent_p.F41F|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Silent_p.F94F	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	94	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCAGATAAGGGAAAACAGTTT	0.398000													19	31					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327936	74327936	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:74327936C>T	ENST00000268059.6	+	8	2230	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	PML_ENST00000564428.1_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.P664S|PML_ENST00000268058.3_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	426					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCAGGAACATCCTGCCCAGCT	0.647000			T	"""RARA, PAX5"""	"""APL, ALL"""								52	49					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301428	140301428	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:140301428G>A	ENST00000275884.6	-	2	1187	c.770C>T	c.(769-771)tCc>tTc	p.S257F	DENND2A_ENST00000496613.1_Missense_Mutation_p.S257F|DENND2A_ENST00000492720.1_Missense_Mutation_p.S257F|DENND2A_ENST00000537639.1_Missense_Mutation_p.S257F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	257										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTTGTGGGGGAACCCTCCGA	0.597000													68	112					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57785890	57785890	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:57785890C>T	ENST00000379661.3	+	8	947	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	185	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TGTCTGAGTTCCCTGGTCACA	0.637000													9	16					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247155	77247155	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:77247155C>T	ENST00000388914.3	-	22	3164	c.3012G>A	c.(3010-3012)gtG>gtA	p.V1004V		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1004	Ser-rich.									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						CTGAGTTTTTCACAGATGGAC	0.368000													44	75					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119653152	119653152	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:119653152C>T	ENST00000368466.2	-	3	1037	c.621G>A	c.(619-621)aaG>aaA	p.K207K	MAN1A1_ENST00000368468.3_Intron			P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	201					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)		ttgcttgccccttcctggctt	0.453000													5	10					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237063	96237063	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:96237063C>T	ENST00000347108.3	-	20	2883	c.2451G>A	c.(2449-2451)gcG>gcA	p.A817A	DZIP1_ENST00000361156.3_Silent_p.A798A|DZIP1_ENST00000376829.2_Silent_p.A817A|DZIP1_ENST00000361396.2_Silent_p.A798A			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	817					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)			GTTCATTTTTCGCAGGTGGAG	0.463000													34	87					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267422	124267422	+	Silent	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:124267422T>A	ENST00000395571.3	-	3	1382	c.765A>T	c.(763-765)gcA>gcT	p.A255A	ZHX1_ENST00000297857.2_Silent_p.A255A|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.A255A	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	255					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGGAAGAACTGCTGCTGGTG	0.413000													35	44					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972870	25972870	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:25972870C>T	ENST00000435504.4	-	12	1848	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	ASXL2_ENST00000404843.1_Missense_Mutation_p.E259K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E491K|ASXL2_ENST00000272341.4_Missense_Mutation_p.E259K			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTAAAGATTCTTGGCTTTCA	0.458000													28	59					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9927992	9927992	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:9927992C>T	ENST00000396573.2	-	9	2056	c.1747G>A	c.(1747-1749)Gga>Aga	p.G583R	GRIN2A_ENST00000396575.2_Missense_Mutation_p.G583R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G583R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G583R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G583R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G426R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	583					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGTTGTATCCAACAGGGCTG	0.398000													46	61					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21854849	21854849	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:21854849C>T	ENST00000382254.1	-	7	1663	c.577G>A	c.(577-579)Gga>Aga	p.G193R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.G193R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	193	Cadherin 2.				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						GCACTGTTTCCATAGGTCGGG	0.393000										HNSCC(59;0.17)			16	16					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44837464	44837464	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:44837464C>T	ENST00000270162.6	-	13	2067	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	645					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TCCAGCCCTCCCGGCTGCCGG	0.751000													8	7					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138192553	138192553	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:138192553C>T	ENST00000237289.4	+	2	255	c.189C>T	c.(187-189)atC>atT	p.I63I		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	63	TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTCGGGAGATCATCCACAAAG	0.458000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								23	43					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115922811	115922811	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:115922811G>A	ENST00000369287.3	-	2	483	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	C10orf118_ENST00000369285.3_Missense_Mutation_p.H73Y|C10orf118_ENST00000369286.1_Missense_Mutation_p.H73Y	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	73										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CCTCCACCATGATCTGGAATA	0.338000													31	5					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160030988	160030988	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:160030988C>T	ENST00000327245.5	-	20	4067	c.3221G>A	c.(3220-3222)gGa>gAa	p.G1074E		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1074					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)			GCCTTCCTGTCCAGATATTCC	0.398000													12	39					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48393854	48393854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:48393854C>T	ENST00000380518.3	-	2	304	c.140G>A	c.(139-141)tGg>tAg	p.W47*	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	47	VWFC.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCCGGCTTCCACACATCCTT	0.572000													12	18					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578591	2578591	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:2578591C>T	ENST00000302956.4	+	8	1095	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.S334F			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	323					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGTCCCAGGTCCCAGCCCGCA	0.677000													17	17					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141110552	141110552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:141110552G>A	ENST00000389484.3	-	76	12591	c.11620C>T	c.(11620-11622)Caa>Taa	p.Q3874*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3874	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCTTTCTTGAAAATTCTGG	0.313000										TSP Lung(27;0.18)			29	43					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124998089	124998089	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:124998089G>A	ENST00000360647.4	-	6	947	c.462C>T	c.(460-462)atC>atT	p.I154I	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Silent_p.I154I|ZNF148_ENST00000492394.1_Silent_p.I154I|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Silent_p.I154I	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	154					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTATTGTAAGGATCTAGTTCA	0.308000													21	30					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878925	5878925	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5878925C>T	ENST00000537935.1	-	1	39	c.8G>A	c.(7-9)gGa>gAa	p.G3E	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGACATTCTTCCTGCCATATA	0.423000													36	50					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604664	62604664	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:62604664G>A	ENST00000281156.4	-	6	964	c.686C>T	c.(685-687)aCc>aTc	p.T229I		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	229	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)		CGCTCCACGGGTTACAGTGCT	0.617000													19	25					0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73634321	73634321	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:73634321G>A	ENST00000460943.1	+	6	1099	c.210G>A	c.(208-210)gcG>gcA	p.A70A	LAT2_ENST00000344995.5_Silent_p.A70A|LAT2_ENST00000398475.1_Silent_p.A70A|LAT2_ENST00000275635.7_Silent_p.A70A	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	70					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						GACCCCTGGCGGACATGGCAC	0.632000													20	17					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559958	33559958	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:33559958C>T	ENST00000228567.3	-	3	1139	c.843G>A	c.(841-843)aaG>aaA	p.K281K	SYT10_ENST00000535526.1_Silent_p.K100K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	281	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGAAATTTCTTTTTCCTAT	0.358000													14	12					0	0	1	0	0
RPS15	6209	broad.mit.edu	37	19	1440453	1440453	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:1440453C>T	ENST00000591804.2	+	5	657	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	RPS15_ENST00000589656.2_Missense_Mutation_p.L140F|RPS15_ENST00000585665.1_Missense_Mutation_p.L111F|RPS15_ENST00000593052.1_Missense_Mutation_p.L151F|RPS15_ENST00000586096.2_3'UTR|RPS15_ENST00000591032.1_Missense_Mutation_p.L111F|RPS15_ENST00000233609.4_Missense_Mutation_p.L117F|RPS15_ENST00000586686.2_Missense_Mutation_p.L144F			P62841	RS15_HUMAN	ribosomal protein S15	144					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CTTCATCCCTCTCAAGTAATG	0.612000													48	6					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876071	154876071	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:154876071C>T	ENST00000287907.2	+	2	1524	c.948C>T	c.(946-948)ccC>ccT	p.P316P	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	316						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTGACATCCCCGCCATCTGGA	0.542000													52	70					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319118	31319118	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:31319118C>T	ENST00000269197.5	+	11	1750	c.1750C>T	c.(1750-1752)Cca>Tca	p.P584S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGCCAGTTTCCAAATGAAGG	0.433000													7	7					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433602	40433602	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:40433602G>A	ENST00000221347.6	-	2	674	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	223	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCCAGAGAGGACAGCCACG	0.572000													65	12					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307121	140307121	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140307121G>A	ENST00000253807.2	+	1	644	c.644G>A	c.(643-645)gGa>gAa	p.G215E	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G215E|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCAGGAGACGCACAA	0.587000													16	31					0	0	1	0	0
IGFBP3	3486	broad.mit.edu	37	7	45957021	45957021	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:45957021C>T	ENST00000275521.6	-	2	554	c.421G>A	c.(421-423)Gag>Aag	p.E141K	IGFBP3_ENST00000381086.5_Missense_Mutation_p.E44K|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.E147K	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	141	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CGGTCTTCCTCCGACTCACTA	0.498000											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	20					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168434624	168434624	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:168434624G>A	ENST00000443060.2	+	5	621	c.230G>A	c.(229-231)gGa>gAa	p.G77E	KIF25_ENST00000354419.2_Missense_Mutation_p.G77E|KIF25_ENST00000351261.3_Missense_Mutation_p.G77E			Q9UIL4	KIF25_HUMAN	kinesin family member 25	77	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ACCATGCTGGGACGCCATTCG	0.522000													18	29					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161006150	161006150	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161006150C>T	ENST00000447678.1	-	27	4337	c.4217G>A	c.(4216-4218)gGa>gAa	p.G1406E	LPA_ENST00000316300.5_Missense_Mutation_p.G1406E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3914	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACATGTTCTTCCTGTGATAGT	0.463000													51	72					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2191038	2191038	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:2191038C>T	ENST00000381178.1	-	3	265	c.247G>A	c.(247-249)Gcg>Acg	p.A83T	TH_ENST00000352909.3_Missense_Mutation_p.A52T|TH_ENST00000381175.1_Missense_Mutation_p.A79T|TH_ENST00000333684.5_Missense_Mutation_p.A56T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	83					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTGCCACCGCCGCCTCCCGC	0.701000													7	10					0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069367	241069367	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:241069367G>A	ENST00000307266.3	-	4	341	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CCTTCCCACGGACCCCGTGCT	0.627000													27	43					0	0	1	0	0
CD164	8763	broad.mit.edu	37	6	109690059	109690059	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:109690059G>A	ENST00000368961.5	-	4	673	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	CD164_ENST00000310786.4_Silent_p.L197L|CD164_ENST00000275080.7_Silent_p.L184L|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000504373.1_Silent_p.L163L|CD164_ENST00000413644.2_Intron|CD164_ENST00000512821.1_Intron|CD164_ENST00000324953.5_Silent_p.L178L			Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	197					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		TCTGTTTACAGAGTGTGGTAA	0.378000													4	17					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795383	142795383	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:142795383C>T	ENST00000370498.1	-	2	1048	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	99										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)					AGGTCTTCGTCCTCCTGTGAA	0.522000													158	67					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719493	108719493	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:108719493C>T	ENST00000232603.5	-	21	2180	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	MORC1_ENST00000483760.1_Missense_Mutation_p.E679K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	700					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTTCATTTCCCAAGAAGCG	0.373000													35	35					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471283	4471283	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4471283G>T	ENST00000325719.4	+	1	759	c.714G>T	c.(712-714)aaG>aaT	p.K238N		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGCTACAAGGCATTTGGGA	0.493000													66	87					4.45325e-31	4.53664e-31	1	1	0
DPPA3	359787	broad.mit.edu	37	12	7864227	7864227	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:7864227G>A	ENST00000345088.2	+	1	178	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	21						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GCTCACCGAAGAAAATTCCCG	0.478000													10	17					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445929	32445929	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:32445929G>A	ENST00000266088.4	+	2	385		c.e2-1			NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1						carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TTCCTCCTCAGGCTATGTTTT	0.488000													75	127					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15967437	15967437	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:15967437G>A	ENST00000217246.4	+	14	1446	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	MACROD2_ENST00000378058.3_Missense_Mutation_p.E116K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E116K|MACROD2_ENST00000407045.3_Missense_Mutation_p.E2K|MACROD2_ENST00000310348.4_Missense_Mutation_p.E351K	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	351	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTCATATATGGAAACAGAAGG	0.333000													6	15					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802413	185802413	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:185802413G>A	ENST00000302277.6	+	4	2884	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	764						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTCATGAATGAATCAGAAAG	0.333000													21	39					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418800	135418800	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:135418800C>T	ENST00000338588.3	-	3	710	c.445G>A	c.(445-447)Gcg>Acg	p.A149T	FAM180A_ENST00000415751.1_Missense_Mutation_p.A149T	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	149						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						AGGGACTGCGCCCAGATGTCC	0.602000													23	19					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974170	128974170	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:128974170C>G	ENST00000522781.1	-	4	1045	c.490G>C	c.(490-492)Gcg>Ccg	p.A164P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.A164P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	164										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACCCGCCCCGCGCCACATGGC	0.552000													26	11					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458247	20458247	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:20458247G>A	ENST00000426804.1	-	1	3539	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGGGGTGGCGGTGGCTGCTG	0.612000													4	9					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3910877	3910877	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:3910877C>T	ENST00000450849.2	+	8	1323	c.856C>T	c.(856-858)Cct>Tct	p.P286S	ATCAY_ENST00000600960.1_Missense_Mutation_p.P286S|ATCAY_ENST00000301260.6_Missense_Mutation_p.P286S|ATCAY_ENST00000398448.3_Missense_Mutation_p.P292S	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	286	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CATCTCTCGCCCTTTCATCAG	0.562000													18	54					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229631307	229631307	+	Silent	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:229631307A>C	ENST00000261396.3	-	8	1072	c.981T>G	c.(979-981)tcT>tcG	p.S327S	NUP133_ENST00000537506.1_Silent_p.S311S|NUP133_ENST00000366679.1_Silent_p.S327S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	327					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTTACTTTCAGATCCCTACA	0.338000													11	27					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073403	74073403	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:74073403T>C	ENST00000370367.3	+	3	527	c.474T>C	c.(472-474)cgT>cgC	p.R158R		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		GGACCCAGCGTTCGGTGGAAG	0.672000													16	27					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	113625	113625	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:113625G>A	ENST00000262316.6	-	4	564	c.422C>T	c.(421-423)cCc>cTc	p.P141L	RHBDF1_ENST00000454039.2_Missense_Mutation_p.P141L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	141					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTAGAGTGGGGGTGGCGTCTC	0.677000													28	35					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238449466	238449466	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:238449466A>T	ENST00000264605.3	+	11	1606	c.1312A>T	c.(1312-1314)Acc>Tcc	p.T438S	MLPH_ENST00000338530.4_Missense_Mutation_p.T410S|MLPH_ENST00000410032.1_Missense_Mutation_p.T295S|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.T438S|MLPH_ENST00000409373.1_Intron	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	438							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGCCCATCAAACCAACAGACA	0.592000													8	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463874	179463874	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179463874G>A	ENST00000589042.1	-	290	56870	c.56647_splice	c.e290+1	p.F18882_splice	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.F10009_splice|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.F9942_splice|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.F16314_splice|TTN_ENST00000460472.2_Splice_Site_p.F9817_splice|TTN_ENST00000591111.1_Splice_Site_p.F17241_splice|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17241	Ig-like 107.						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)			CCTACTTACAGAAGAGGTTTC	0.368000													92	133					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036697	62036697	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:62036697G>A	ENST00000578147.1	-	12	2023	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	SCN4A_ENST00000435607.1_Silent_p.I649I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	649					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)	TGAGGGTGACGATGATGCTGT	0.552000													30	25					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171455441	171455441	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:171455441G>A	ENST00000356327.5	-	3	239	c.169C>T	c.(169-171)Cct>Tct	p.P57S	PLD1_ENST00000342215.6_Missense_Mutation_p.P57S|PLD1_ENST00000351298.4_Missense_Mutation_p.P57S|PLD1_ENST00000340989.4_Missense_Mutation_p.P57S	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	57					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCAGAGAAAGGGATATACACT	0.328000													14	17					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7091574	7091574	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:7091574C>T	ENST00000299481.4	+	11	3379	c.3033C>T	c.(3031-3033)atC>atT	p.I1011I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1011					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGCTCTTATCTGCAACAAAA	0.348000													17	31					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033335	122033335	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:122033335G>A	ENST00000334010.7	-	20	3338	c.2917C>T	c.(2917-2919)Cca>Tca	p.P973S	CADPS2_ENST00000449022.2_Missense_Mutation_p.P975S|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	975	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						GGAACTTTTGGAAGAGCTACA	0.438000													23	24					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135060	128135060	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:128135060G>A	ENST00000368250.1	-	5	987	c.489C>T	c.(487-489)atC>atT	p.I163I	THEMIS_ENST00000537166.1_Silent_p.I207I|THEMIS_ENST00000368248.2_Silent_p.I242I|THEMIS_ENST00000543064.1_Silent_p.I242I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	242	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GGAGGATGCGGATTATATCTT	0.338000													27	39					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993836	75993836	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:75993836C>T	ENST00000274364.6	+	33	4528	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C	IQGAP2_ENST00000396234.3_Missense_Mutation_p.R907C|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R913C|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R907C	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1411					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.R1411C(1)		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)		AAGAATCTATCGTAAGCTTCG	0.353000													6	12					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140795001	140795001	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140795001C>T	ENST00000398610.2	+	1	2259	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGCTTTCCTGCAGACCT	0.627000													29	47					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768185	117768185	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:117768185C>T	ENST00000317775.6	-	2	1375	c.690G>A	c.(688-690)aaG>aaA	p.K230K	NOS1_ENST00000338101.4_Silent_p.K230K|NOS1_ENST00000344089.3_Silent_p.K230K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	230	PIN (nNOS-inhibiting protein) binding.				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)	TCATCTCTGCCTTGGCAGGTG	0.547000													42	61					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646283	6646283	+	Missense_Mutation	SNP	G	G	A	rs11549340		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:6646283G>A	ENST00000229239.5	+	6	1010	c.344G>A	c.(343-345)gGa>gAa	p.G115E	GAPDH_ENST00000396859.1_Missense_Mutation_p.G115E|GAPDH_ENST00000396858.1_Missense_Mutation_p.G73E|GAPDH_ENST00000396856.1_Missense_Mutation_p.G40E|GAPDH_ENST00000396861.1_Missense_Mutation_p.G115E	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	115	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)	TTGCAGGGGGGAGCCAAAAGG	0.577000													13	22					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52586522	52586522	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:52586522G>A	ENST00000591504.1	-	9	1043	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	CCDC68_ENST00000432185.1_Silent_p.L257L|CCDC68_ENST00000337363.4_Silent_p.L257L	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	257										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ACACTGCGCAGGTTCTGATGT	0.473000													47	72					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326539	31326539	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:31326539G>T	ENST00000269197.5	+	12	6727	c.6727G>T	c.(6727-6729)Gca>Tca	p.A2243S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTTTGTGTAGCATGCCTGGT	0.463000													21	38					1.96895e-08	1.98516e-08	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100108602	100108602	+	Silent	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:100108602A>T	ENST00000395996.1	+	4	465	c.354A>T	c.(352-354)tcA>tcT	p.S118S	VPS13B_ENST00000357162.2_Silent_p.S118S|VPS13B_ENST00000441350.2_Silent_p.S118S|VPS13B_ENST00000358544.2_Silent_p.S118S|VPS13B_ENST00000355155.1_Silent_p.S118S			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	118					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)			GCACAAAATCATCAATCAAAC	0.383000													22	25					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234186	18234186	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:18234186C>T	ENST00000229002.2	-	6	763	c.557G>A	c.(556-558)gGa>gAa	p.G186E	RERGL_ENST00000538724.1_Missense_Mutation_p.G185E	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	186	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGATTTAGATCCACTGGGACG	0.383000													14	16					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52542733	52542733	+	Silent	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:52542733G>T	ENST00000242839.4	-	4	1710	c.1554C>A	c.(1552-1554)tcC>tcA	p.S518S	ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.S518S|ATP7B_ENST00000448424.2_Silent_p.S518S|ATP7B_ENST00000400366.3_Silent_p.S407S|ATP7B_ENST00000418097.2_Silent_p.S518S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	518	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAACCAACACGGAGAGAACAC	0.512000									Wilson disease				16	50					5.35267e-07	5.37462e-07	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7981529	7981529	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:7981529C>T	ENST00000328600.2	-	2	1791	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	544							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)		TGCTTCAGATCCTGCGCTAAA	0.408000													19	29					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56191374	56191374	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:56191374G>A	ENST00000340462.4	-	2	465	c.185C>T	c.(184-186)tCc>tTc	p.S62F	ZBP1_ENST00000343535.4_Missense_Mutation_p.S62F|ZBP1_ENST00000371173.3_Missense_Mutation_p.S62F|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000541799.1_Missense_Mutation_p.S62F|ZBP1_ENST00000538947.1_5'UTR			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	62						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGTGGCAGGGGATGTGAGGGA	0.597000													22	47					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767819	181767819	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:181767819A>G	ENST00000526775.1	+	46	6770	c.6605A>G	c.(6604-6606)aAc>aGc	p.N2202S	CACNA1E_ENST00000367570.1_Missense_Mutation_p.N2221S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.N1828S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.N2264S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.N2215S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.N2153S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.N2245S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2264					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						GGCCGTTCCAACACCATCGGC	0.662000													14	12					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668661	176668661	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:176668661G>A	ENST00000367662.3	+	8	4336	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1058					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTCTCCGCGATCCCCCATT	0.552000													60	147					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803563	137803563	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:137803563C>T	ENST00000239938.4	+	2	1697	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	475					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			cctccttctcctctcccggct	0.652000													50	43					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69360499	69360499	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:69360499G>A	ENST00000542259.1	-	3	527	c.76C>T	c.(76-78)Cta>Tta	p.L26L	FRMD4B_ENST00000398540.3_Silent_p.L80L			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	80						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCTCTTGCTAGAAGTTTGGGC	0.378000													8	8					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121403206	121403206	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:121403206G>A	ENST00000260197.7	+	12	1759	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	544					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)		CACATGGGGAGACCACGGCGG	0.488000													11	9					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347843	140347843	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140347843G>A	ENST00000289269.5	+	1	2024	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		498	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)			AGACCCAGATGAAAAGGAGAA	0.512000													40	62					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477360	110477360	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:110477360C>T	ENST00000260283.4	-	10	1173	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E261K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E274K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E261K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E271K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E271K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	297					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGGAGCTGTTCCATAAGGAAG	0.527000													70	23					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884922	13884922	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:13884922A>G	ENST00000327606.3	-	2	776	c.596T>C	c.(595-597)cTg>cCg	p.L199P		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	199					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGATCGAGCCAGCAGGAACAT	0.562000													23	29					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168947785	168947785	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:168947785C>T	ENST00000354536.5	+	6	751	c.531C>T	c.(529-531)tcC>tcT	p.S177S	SMOC2_ENST00000356284.2_Intron	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	170					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AAATCTTTTCCGTTCTGAATT	0.507000													39	60					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87971086	87971086	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:87971086C>T	ENST00000369577.3	+	8	7782	c.7739C>T	c.(7738-7740)tCt>tTt	p.S2580F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S2575F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATCCTGCATCTTTTGACTGG	0.418000													12	19					0	0	1	0	0
TMEM184B	25829	broad.mit.edu	37	22	38620935	38620935	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38620935G>A	ENST00000361906.3	-	8	1047	c.839C>T	c.(838-840)tCg>tTg	p.S280L	TMEM184B_ENST00000361684.4_Missense_Mutation_p.S280L	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	280						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CACGCGGGCCGAGTGGATTTT	0.637000													6	7					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256761	7256761	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:7256761C>T	ENST00000333751.3	+	1	1554	c.500C>T	c.(499-501)cCc>cTc	p.P167L	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	167					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GTGGAACTCCCCGAGGTGGAG	0.677000													16	21					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42678418	42678418	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:42678418C>T	ENST00000397163.3	+	3	652	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	CAPN3_ENST00000318023.7_Missense_Mutation_p.L145F|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.L145F|CAPN3_ENST00000357568.3_Missense_Mutation_p.L145F|CAPN3_ENST00000356316.3_Missense_Mutation_p.L58F	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	145	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCACCTTCTTTTCCGAGT	0.542000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	82					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833066	34833066	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:34833066C>T	ENST00000299505.6	+	10	3100	c.2227C>T	c.(2227-2229)Ccg>Tcg	p.P743S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	743										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCCATTGGACCGCAGCAGCC	0.622000													53	168					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46795689	46795689	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:46795689G>A	ENST00000262738.3	-	10	5336	c.5337C>T	c.(5335-5337)atC>atT	p.I1779I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1779	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTTCAGCTCGATCAGCAGGT	0.592000													23	25					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324383	158324383	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158324383A>G	ENST00000368160.3	+	2	275	c.275A>G	c.(274-276)aAc>aGc	p.N92S	CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.N92S|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.N92S|CD1E_ENST00000368156.1_Missense_Mutation_p.N92S|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.N92S|CD1E_ENST00000434258.1_Missense_Mutation_p.N90S|CD1E_ENST00000368155.3_Missense_Mutation_p.N92S|CD1E_ENST00000368165.3_Missense_Mutation_p.N92S|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	92					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAGCTGAAAAACTTACAGTCA	0.478000													17	37					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510223	5510223	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5510223C>T	ENST00000322641.5	+	1	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGATTTCCTTTGGTGGA	0.498000													21	34					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128326280	128326280	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:128326280C>T	ENST00000368227.3	-	15	2809	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K	PTPRK_ENST00000368215.3_Missense_Mutation_p.E814K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E815K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E815K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E815K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E825K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E815K|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	814					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGAGGATCTTCTGCATGCAGA	0.388000													12	17					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273498	26273498	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:26273498G>C	ENST00000377733.2	+	1	355	c.295G>C	c.(295-297)Gtg>Ctg	p.V99L		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	99					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.V99L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CCAAACGGCTGTGCGCCTGCT	0.592000													34	69					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078409	70078409	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:70078409C>T	ENST00000446444.1	-	2	760	c.752G>A	c.(751-753)gGa>gAa	p.G251E	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	251					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						GTCAGCTTTTCCCATTGTCTC	0.373000													25	55					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36171103	36171103	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:36171103C>T	ENST00000335119.2	+	1	1715	c.1604C>T	c.(1603-1605)aCt>aTt	p.T535I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	535					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGTGTCACCACTGCCAGCGAT	0.537000													32	8					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159206568	159206568	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:159206568G>A	ENST00000367075.3	-	5	408	c.240C>T	c.(238-240)ttC>ttT	p.F80F	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Silent_p.F80F|EZR_ENST00000392177.4_Silent_p.F48F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	80	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACTTGGCCCGGAACTTGAACT	0.532000			T	ROS1	NSCLC								20	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616027	179616027	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179616027C>T	ENST00000360870.5	-	46	11322	c.11100G>A	c.(11098-11100)gtG>gtA	p.V3700V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9546	Ig-like 22.						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)			GTTGCAACTTCACTTTGGTCT	0.333000													16	51					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202905	56202905	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:56202905G>A	ENST00000361673.3	-	5	4727	c.4514C>T	c.(4513-4515)cCa>cTa	p.P1505L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1505							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACATCCACTTGGAATTCTTTC	0.483000													17	39					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10446432	10446432	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10446432G>A	ENST00000245503.5	-	9	1172	c.788C>T	c.(787-789)tCt>tTt	p.S263F	MYH2_ENST00000397183.2_Missense_Mutation_p.S263F|MYH2_ENST00000532183.1_Missense_Mutation_p.S263F|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	263	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATATCAGCAGATGCCAGTTT	0.294000													34	54					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277286	95277286	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:95277286C>T	ENST00000344604.5	-	4	830	c.681G>A	c.(679-681)aaG>aaA	p.K227K	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.K205K	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	227					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GGGTCTCTCTCTTTTGCTCTG	0.498000													84	26					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:22364321C>T	ENST00000397121.2	-	3	515	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303000													45	5					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41783516	41783516	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:41783516G>A	ENST00000266304.4	+	2	435	c.319G>A	c.(319-321)Gag>Aag	p.E107K	TEF_ENST00000406644.3_Missense_Mutation_p.E77K	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	107					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GTTCCTGCTGGAGAATGGCAT	0.582000													45	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440965	179440965	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179440965G>A	ENST00000589042.1	-	326	70118	c.69894C>T	c.(69892-69894)atC>atT	p.I23298I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.I14425I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.I14358I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.I20730I|TTN_ENST00000460472.2_Silent_p.I14233I|TTN_ENST00000591111.1_Silent_p.I21657I|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21657	Fibronectin type-III 69.						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)			CGAACTGAGTGATTCTGAGGG	0.463000													14	25					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151384264	151384264	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:151384264G>A	ENST00000491586.1	-	11	1659	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	POGZ_ENST00000361398.3_Intron|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Intron|POGZ_ENST00000271715.2_Intron|POGZ_ENST00000409503.1_Intron|POGZ_ENST00000392723.1_Intron|POGZ_ENST00000368863.2_Intron			Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	593					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACATAGGAGGGAAAATAAGG	0.383000													8	31					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20215083	20215083	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:20215083C>T	ENST00000418063.2	+	2	151	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	13	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCATAGAATTCTCTCTGGAGG	0.423000													55	10					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57171134	57171134	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:57171134C>T	ENST00000535318.2	+	15	1603	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	CPNE2_ENST00000537605.1_Silent_p.S312S|CPNE2_ENST00000565874.1_Silent_p.S414S|CPNE2_ENST00000290776.8_Silent_p.S414S|CPNE2_ENST00000565951.1_Intron			Q96FN4	CPNE2_HUMAN	copine II	414	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCAATTTCTCCCCCATCGTCA	0.612000													12	25					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90176402	90176402	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:90176402G>C	ENST00000394412.3	-	13	2764	c.2688C>G	c.(2686-2688)aaC>aaG	p.N896K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	896					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCACAGAGCCGTTGCTGCCAC	0.627000													5	13					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61260157	61260157	+	Missense_Mutation	SNP	G	G	A	rs138290904		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:61260157G>A	ENST00000344731.5	+	5	526	c.424G>A	c.(424-426)Gat>Aat	p.D142N	SERPINB13_ENST00000269489.5_Missense_Mutation_p.D142N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	142					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAATGCAGCCGATGAAAGTCG	0.323000													21	34					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1												p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313000													20	33					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552966	50552966	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:50552966T>C	ENST00000262794.5	+	7	1124	c.1041T>C	c.(1039-1041)aaT>aaC	p.N347N	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Silent_p.N327N|MOV10L1_ENST00000395858.3_Silent_p.N347N|MOV10L1_ENST00000545383.1_Silent_p.N347N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	347					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CAGATGAAAATATTAATTCAT	0.393000													10	27					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135368917	135368917	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:135368917C>T	ENST00000368517.3	-	12	886	c.748G>A	c.(748-750)Gga>Aga	p.G250R	SYCE1_ENST00000432597.2_Missense_Mutation_p.G250R|SYCE1_ENST00000343131.5_Missense_Mutation_p.G286R|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	286					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ACTTGCATTCCATGCTTTTCC	0.562000													40	18					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43023662	43023662	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43023662G>A	ENST00000388752.3	-	5	1028	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	MRPL2_ENST00000230413.5_Missense_Mutation_p.R202W|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	202					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGGGCACCCCGGCCTGGCTCA	0.552000													11	21					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48082087	48082087	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:48082087G>A	ENST00000264316.4	-	11	1100	c.1015C>T	c.(1015-1017)Ctt>Ttt	p.L339F	TXK_ENST00000507351.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	339	Protein kinase.					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						ACAATGTAAAGGGGCTTCCGC	0.413000													25	33					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1444013	1444013	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:1444013G>A	ENST00000446702.2	+	22	3456	c.2829G>A	c.(2827-2829)cgG>cgA	p.R943R	CNTN6_ENST00000539053.1_Silent_p.R871R|CNTN6_ENST00000350110.2_Silent_p.R943R			Q9UQ52	CNTN6_HUMAN	contactin 6	943	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTCTGTACCGGCAAAACAGAC	0.348000													12	23					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34611587	34611587	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:34611587C>T	ENST00000373973.3	+	11	1506	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Silent_p.L441L					cyclic nucleotide binding domain containing 2																		CCTGATGAGCCTGGGAAATGA	0.428000													29	38					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46275981	46275981	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:46275981A>T	ENST00000600757.1	-	9	1964	c.1277T>A	c.(1276-1278)aTg>aAg	p.M426K	DMPK_ENST00000291270.4_Missense_Mutation_p.M421K|DMPK_ENST00000343373.4_Missense_Mutation_p.M431K|DMPK_ENST00000447742.2_Missense_Mutation_p.M416K|DMPK_ENST00000458663.2_Missense_Mutation_p.M416K|DMPK_ENST00000354227.5_Missense_Mutation_p.M416K			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	431					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CTCCAGTTCCATGGGTGTGGG	0.617000													21	41					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133727701	133727701	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:133727701A>T	ENST00000248211.6	+	3	343	c.121A>T	c.(121-123)Aat>Tat	p.N41Y	ZNF10_ENST00000402932.2_Missense_Mutation_p.N41Y|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.N41Y|ZNF268_ENST00000416488.1_Missense_Mutation_p.N41Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.N41Y|ZNF10_ENST00000540927.1_3'UTR	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CGTGTACAGAAATGTGATGCT	0.448000													42	46					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103850	39103850	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:39103850G>A	ENST00000297668.6	-	16	2500	c.2427C>T	c.(2425-2427)ttC>ttT	p.F809F	CNTNAP3_ENST00000358144.2_Silent_p.F721F|CNTNAP3_ENST00000377656.2_Silent_p.F808F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	809	Laminin G-like 3.				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)		GTTCTCCGTGGAAAGCAGGGA	0.428000													8	9					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901899	52901899	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:52901899C>T	ENST00000354452.3	-	16	1977	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	TCF4_ENST00000398339.1_Missense_Mutation_p.E558K|TCF4_ENST00000561831.3_Missense_Mutation_p.E296K|TCF4_ENST00000566279.1_Missense_Mutation_p.E396K|TCF4_ENST00000537578.1_Missense_Mutation_p.E432K|TCF4_ENST00000570287.2_Missense_Mutation_p.E296K|TCF4_ENST00000540999.1_Missense_Mutation_p.E432K|TCF4_ENST00000568740.1_Missense_Mutation_p.E431K|TCF4_ENST00000564228.1_Missense_Mutation_p.E385K|TCF4_ENST00000566286.1_Missense_Mutation_p.E453K|TCF4_ENST00000565018.2_Missense_Mutation_p.E456K|TCF4_ENST00000544241.2_Missense_Mutation_p.E385K|TCF4_ENST00000567880.1_Missense_Mutation_p.E396K|TCF4_ENST00000356073.4_Missense_Mutation_p.E456K|TCF4_ENST00000537856.3_Missense_Mutation_p.E326K|TCF4_ENST00000561992.1_Missense_Mutation_p.E326K|TCF4_ENST00000568673.1_Missense_Mutation_p.E432K|TCF4_ENST00000564999.1_Missense_Mutation_p.E456K|TCF4_ENST00000543082.1_Missense_Mutation_p.E414K|TCF4_ENST00000457482.3_Missense_Mutation_p.E296K|TCF4_ENST00000564403.2_Missense_Mutation_p.E462K|TCF4_ENST00000570177.2_Missense_Mutation_p.E326K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	456					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACGCCATCTTCACGATGGGTC	0.592000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	44					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432758	140432758	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140432758A>G	ENST00000306549.3	+	1	1780	c.1703A>G	c.(1702-1704)aAc>aGc	p.N568S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		568					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACTGCAGAACGGCACCTTG	0.522000													27	31					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395581	124395581	+	Missense_Mutation	SNP	G	G	A	rs147966171	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:124395581G>A	ENST00000368909.3	+	50	6342	c.6236G>A	c.(6235-6237)cGa>cAa	p.R2079Q	DMBT1_ENST00000368955.3_Missense_Mutation_p.R2069Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1451Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.R799Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2069Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1451Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2079Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2079	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCATTGCTCGAGTTTGTGAT	0.517000													19	6					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416919	416919	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:416919G>A	ENST00000399788.2	-	23	3993	c.3631C>T	c.(3631-3633)Ctt>Ttt	p.L1211F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L1211F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1211					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGAGGGCAAAGGAATTTTACT	0.473000			T	NUP98	AML								25	30					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896702	89896702	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:89896702G>A	ENST00000534061.1	+	11	1425		c.e11-1		NAALAD2_ENST00000525171.1_Splice_Site|NAALAD2_ENST00000321955.4_Splice_Site|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2						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)				AATTCTTACAGGCTGGAGACC	0.388000													19	24					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936237	105936237	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:105936237C>T	ENST00000331320.7	+	20	2119	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	MTA1_ENST00000406191.1_Silent_p.I623I|MTA1_ENST00000405646.1_Silent_p.I618I|MTA1_ENST00000435036.2_Silent_p.I175I|RP11-521B24.5_ENST00000552675.1_RNA	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	635					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGCGCCTGATCCGGGGGGGCT	0.672000													6	5					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890702	23890702	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:23890702C>T	ENST00000532292.1	-	1	473	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTAGAGGAGCCCCTGCGGTCT	0.587000													8	24					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53155763	53155763	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:53155763G>A	ENST00000296292.3	-	5	571	c.510C>T	c.(508-510)ctC>ctT	p.L170L	RFT1_ENST00000394738.3_Silent_p.L131L	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	170					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ACCACAGCACGAGAAAAGCTG	0.413000													9	10					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60989205	60989205	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:60989205C>T	ENST00000252998.1	-	10	1358	c.1202G>A	c.(1201-1203)gGg>gAg	p.G401E		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		TGCCCTGGTCCCCTCATTCTC	0.711000													11	12					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184573563	184573563	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:184573563C>T	ENST00000437079.3	+	14	1271	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	VPS8_ENST00000287546.4_Missense_Mutation_p.P367L|VPS8_ENST00000436792.2_Missense_Mutation_p.P365L|VPS8_ENST00000446204.2_Missense_Mutation_p.P365L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	367							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TACGTGAATCCCATGCTTGCC	0.393000													59	107					0	0	1	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573450	106573450	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:106573450C>T	ENST00000390601.2	-	0	253																											GAAGGTGAATCCAGAGGCTGC	0.552000													4	135					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640587	99640587	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:99640587G>A	ENST00000345514.2	-	3	2639	c.2373C>T	c.(2371-2373)ccC>ccT	p.P791P	BCL11B_ENST00000443726.2_Silent_p.P668P|BCL11B_ENST00000357195.3_Silent_p.P862P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	862						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGACGCTGAAGGGCATCTGGC	0.587000			T	TLX3	T-ALL								12	16					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473545	56473545	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:56473545T>G	ENST00000291971.3	+	4	2226	c.2155T>G	c.(2155-2157)Ttt>Gtt	p.F719V	NLRP8_ENST00000590542.1_Missense_Mutation_p.F719V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	719						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)		GGGGCCTCCTTTTTTGAAGGC	0.488000													42	66					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420886	55420886	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:55420886C>T	ENST00000242994.3	+	2	1041	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	221					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AAACACATCTCCTTCATCTCA	0.493000													31	46					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4609424	4609424	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:4609424C>T	ENST00000261250.3	-	11	1407	c.1320G>A	c.(1318-1320)tcG>tcA	p.S440S	C12orf4_ENST00000545746.1_Silent_p.S440S	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	440										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGATGTTTCCCGATTTCACAT	0.408000													20	27					0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85531398	85531398	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:85531398C>T	ENST00000282111.3	+	7	1057	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	261	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCATGTACTCCCTTCCTCCC	0.612000													20	31					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32663598	32663598	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:32663598C>T	ENST00000335185.5	-	13	1013	c.970G>A	c.(970-972)Gag>Aag	p.E324K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	324										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTACCTTCTCCCTTTGCAGC	0.289000													3	14					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501635	136501635	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:136501635C>T	ENST00000393056.2	+	1	154	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	48					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GAGCCCCCTCCCCTATCACAT	0.642000													22	3					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129962508	129962508	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:129962508C>T	ENST00000222482.4	+	11	1286	c.1258C>T	c.(1258-1260)Ctc>Ttc	p.L420F	CPA4_ENST00000445470.2_Missense_Mutation_p.L387F|CPA4_ENST00000493259.1_Missense_Mutation_p.L316F	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	420					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCGGGACAACCTCTACTAGGC	0.547000													36	50					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425733	88425733	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:88425733C>T	ENST00000393750.3	-	2	233	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	FABP1_ENST00000295834.3_Missense_Mutation_p.E68K|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	68					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						AGCTCACATTCCTCCCCCACC	0.527000													79	123					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613293	72613293	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:72613293C>T	ENST00000392619.1	-	2	468	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CD300E_ENST00000328630.3_Missense_Mutation_p.D118N|CD300E_ENST00000426295.2_Missense_Mutation_p.D159N	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	118						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCGAGGGATCGCGTGACCAT	0.537000													23	54					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236721628	236721628	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:236721628T>A	ENST00000366582.3	-	36	5227	c.5113A>T	c.(5113-5115)Aag>Tag	p.K1705*	HEATR1_ENST00000366581.2_Nonsense_Mutation_p.K1624*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1705					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCTCCTCCTTTCTCTCTGGA	0.522000													24	80					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3595052	3595052	+	Silent	SNP	G	G	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:3595052G>C	ENST00000550383.1	-	2	362	c.174C>G	c.(172-174)gtC>gtG	p.V58V	P2RX5_ENST00000552276.1_Silent_p.V58V|P2RX5_ENST00000552050.1_Silent_p.V22V|P2RX5_ENST00000547178.1_Silent_p.V58V|P2RX5_ENST00000345901.3_Silent_p.V58V|P2RX5_ENST00000435558.1_Silent_p.V58V|P2RX5_ENST00000225328.5_Silent_p.V58V|P2RX5_ENST00000551178.1_Silent_p.V58V																							GGGAGGTGTCGACGTCTTGGT	0.602000													46	79					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78516338	78516338	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:78516338G>A	ENST00000278550.7	-	15	2640	c.2179_splice	c.e15+1	p.I726_splice		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGCATTTACCGATAGAACAGT	0.552000													5	5					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746247	15746247	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:15746247G>A	ENST00000285667.3	-	5	1174	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	HSPA13_ENST00000544452.1_Silent_p.L161L	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	369						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGGTATCAAAGAGTTTCCGTG	0.418000													44	63					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18255881	18255881	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:18255881C>T	ENST00000262811.5	+	23	2794	c.2794C>T	c.(2794-2796)Cgt>Tgt	p.R932C	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	932	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCGTCGTCCCGTGACTCTTC	0.672000													20	72					0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52682454	52682454	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:52682454C>T	ENST00000298181.5	-	2	227	c.69_splice	c.e2+1	p.K23_splice		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GTCACCTCACCTTTTGGATCT	0.562000													71	27					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276716	42276716	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:42276716C>T	ENST00000399518.3	-	19	2790	c.2304G>A	c.(2302-2304)atG>atA	p.M768I	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.M739I	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	756	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)		GGGGGTTCTCCATCAGGTAGC	0.507000													40	32					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113275228	113275228	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:113275228G>A	ENST00000401783.2	-	5	1617	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.S404S|SVEP1_ENST00000302728.8_Silent_p.S427S|SVEP1_ENST00000374461.1_Silent_p.S404S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	427	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCTGAACCGGACCACAAAC	0.443000													27	5					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57269062	57269062	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:57269062C>T	ENST00000339475.5	-	5	561	c.285G>A	c.(283-285)aaG>aaA	p.K95K	OTX2_ENST00000408990.3_Silent_p.K87K|OTX2_ENST00000555006.1_Silent_p.K87K|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	87	Poly-Gln.				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CTCTTCGATTCTTAAACCATA	0.423000													33	61					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664092	169664092	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:169664092G>A	ENST00000483289.2	-	0	3202				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						AAGTCACACAGTAGAAGTCCT	0.502000													15	24					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852251	16852251	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:16852251G>A	ENST00000437538.2	-	2	116	c.108C>T	c.(106-108)ctC>ctT	p.L36L	TNFRSF13B_ENST00000579315.1_Silent_p.L82L|TNFRSF13B_ENST00000583789.1_Silent_p.L36L|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000261652.2_Silent_p.L82L			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	82					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						AGTCCCTCAGGAGATGGTCAT	0.527000									IgA Deficiency, Selective				35	44					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133948193	133948193	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:133948193C>T	ENST00000361069.4	+	19	3521	c.3388C>T	c.(3388-3390)Ctg>Ttg	p.L1130L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1130	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAGGAGATTCTGCATGCAGC	0.637000													7	1					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717507	13717507	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13717507T>A	ENST00000265104.4	-	73	12726	c.12622A>T	c.(12622-12624)Atc>Ttc	p.I4208F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4208	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTAGGGGATATTCCACCCC	0.542000									Kartagener syndrome				10	19					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12698628	12698628	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:12698628T>G	ENST00000388918.5	+	4	1015	c.886T>G	c.(886-888)Tat>Gat	p.Y296D	TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	296					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CTTGGAAGATTATGATACCCT	0.398000									Oculocutaneous Albinism				13	8					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	330160	330160	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:330160G>A	ENST00000343164.4	-	15	1815	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L	SLC6A13_ENST00000445055.2_Missense_Mutation_p.P496L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	588					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGAGGTCCTGGGGGTGGCGGG	0.657000													11	20					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151820083	151820083	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151820083C>T	ENST00000370306.2	+	8	1016	c.996C>T	c.(994-996)atC>atT	p.I332I		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	332						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATATCTATATCCTCGTGTGCT	0.478000													57	19					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638265	176638265	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:176638265T>C	ENST00000439151.2	+	5	2910	c.2865T>C	c.(2863-2865)gtT>gtC	p.V955V	NSD1_ENST00000347982.4_Silent_p.V686V|NSD1_ENST00000354179.4_Silent_p.V686V|NSD1_ENST00000361032.4_Silent_p.V852V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	955					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTCTAAGGTTTTGGTTTCAG	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			11	21					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124036365	124036365	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:124036365A>G	ENST00000368994.2	+	3	332	c.81A>G	c.(79-81)aaA>aaG	p.K27K	BTBD16_ENST00000260723.4_Silent_p.K26K			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	26										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GTTTGCCCAAACAGCCTTTCT	0.507000													32	13					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252337	124252337	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:124252337C>T	ENST00000375013.2	-	1	921	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCAGAGCTTTCCTCAGTGCAA	0.348000													22	3					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79614108	79614108	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:79614108G>A	ENST00000372391.2	-	4	562	c.557C>T	c.(556-558)cCt>cTt	p.P186L	DLG5_ENST00000372388.2_Missense_Mutation_p.P186L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	186					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCATAGTCAGGATTCAGCCT	0.592000													18	6					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120590960	120590960	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:120590960C>T	ENST00000315870.5	+	1	158	c.10C>T	c.(10-12)Cta>Tta	p.L4L	ING3_ENST00000445699.1_Silent_p.L4L|ING3_ENST00000339121.5_Silent_p.L4L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	4					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)					GATGTTGTACCTAGAAGACTA	0.637000													28	47					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44489833	44489833	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:44489833G>C	ENST00000338758.6	+	2	201	c.138G>C	c.(136-138)aaG>aaC	p.K46N	PARVB_ENST00000406477.3_Missense_Mutation_p.K79N|PARVB_ENST00000404989.1_Missense_Mutation_p.K9N|PARVB_ENST00000402876.3_Missense_Mutation_p.K46N|PARVB_ENST00000477795.1_3'UTR	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	46					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				AAGAAGGCAAGAATGCCATCA	0.562000													25	45					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17491611	17491611	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:17491611C>T	ENST00000541323.1	+	6	1273	c.828C>T	c.(826-828)atC>atT	p.I276I	PDGFRL_ENST00000398074.3_Silent_p.I276I|PDGFRL_ENST00000251630.6_Silent_p.I276I|PDGFRL_ENST00000523248.1_3'UTR	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	276	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CAACAACCATCTTGGCTTCTT	0.527000													86	102					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246930	56246930	+	Missense_Mutation	SNP	C	C	T	rs140973320	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:56246930C>T	ENST00000361673.3	-	4	1291	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	360							ATP binding|protein serine/threonine kinase activity	p.D360N(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTTCGTCATCGCTTTCTAAT	0.502000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95816659	95816659	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:95816659G>A	ENST00000376887.4	-	16	2262	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	ABCC4_ENST00000412704.1_Intron|ABCC4_ENST00000431522.1_Silent_p.F716F|ABCC4_ENST00000536256.1_Silent_p.F641F	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	716	ABC transmembrane type-1 2.				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)	GGAGAATAAGGAAAATGAAGA	0.383000													10	44					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767591	181767591	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:181767591G>A	ENST00000526775.1	+	46	6542	c.6377G>A	c.(6376-6378)gGa>gAa	p.G2126E	CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2145E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1752E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2188E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2139E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2077E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2169E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2188					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						CCTGCTGATGGAAGCGAGGAG	0.637000													31	60					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521409	129521409	+	Silent	SNP	C	C	T	rs148231534		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:129521409C>T	ENST00000305031.4	+	3	2932	c.2574C>T	c.(2572-2574)ttC>ttT	p.F858F		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	858						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			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAAGTACTTTCGCCTCAACCA	0.443000													23	34					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38180251	38180251	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38180251T>C	ENST00000417037.2	+	1	283	c.99T>C	c.(97-99)ctT>ctC	p.L33L	MYD88_ENST00000495303.1_Silent_p.L33L|MYD88_ENST00000396334.3_Silent_p.L33L|MYD88_ENST00000443433.2_Silent_p.L33L|MYD88_ENST00000424893.1_Silent_p.L33L	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	20					3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CATCCTCCCTTCCCCTGGCTG	0.706000			Mis		ABC-DLBCL								10	13					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9786133	9786133	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:9786133C>T	ENST00000383829.2	+	9	3265	c.2861C>T	c.(2860-2862)cCc>cTc	p.P954L	BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000457855.1_Missense_Mutation_p.P948L|BRPF1_ENST00000424362.1_Missense_Mutation_p.P947L|BRPF1_ENST00000302054.3_Missense_Mutation_p.P948L	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	948	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GGTAGGAGCCCCCGGCCCAGT	0.647000													12	9					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31614327	31614327	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:31614327G>A	ENST00000319386.3	+	7	1562	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	CCDC129_ENST00000451887.2_Missense_Mutation_p.R216Q|CCDC129_ENST00000409210.1_Missense_Mutation_p.R98Q|CCDC129_ENST00000407970.3_Missense_Mutation_p.R190Q			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	190										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAAAAGCAGCGAATGGACATT	0.527000													13	30					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571801	47571801	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:47571801G>A	ENST00000334194.3	+	9	1072	c.1067_splice	c.e9-1	p.E357_splice	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	357						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCTACCCAGGGAACACCTGAG	0.483000													28	39					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908865	38908865	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38908865G>A	ENST00000450244.1	-	23	4096	c.3898C>T	c.(3898-3900)Ctg>Ttg	p.L1300L	SCN11A_ENST00000444237.2_Silent_p.L1300L|SCN11A_ENST00000456224.3_Silent_p.L1262L|SCN11A_ENST00000302328.3_Silent_p.L1300L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1300					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGAGATTCAGAGTGAAGAAT	0.363000													16	27					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964873	196964873	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196964873C>T	ENST00000367414.5	+	5	762	c.706C>T	c.(706-708)Cct>Tct	p.P236S	CFHR5_ENST00000256785.4_Missense_Mutation_p.P212S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	212	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGGTCCACCTCCTCAACTCTC	0.318000													52	37					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135890479	135890479	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:135890479T>A	ENST00000264158.8	+	14	1294	c.1251T>A	c.(1249-1251)gaT>gaA	p.D417E	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.D417E|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.D373E	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	417						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TATTCCCTGATGCTGTTTCTG	0.308000													17	32					0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153347040	153347040	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:153347040C>T	ENST00000368737.3	-	2	146	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	10					defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	ATTGACAATTCCCTCCAGATG	0.478000													47	109					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33014864	33014864	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:33014864C>T	ENST00000242209.4	+	3	607	c.438C>T	c.(436-438)gaC>gaT	p.D146D	FKBP9_ENST00000538336.1_Silent_p.D199D|FKBP9_ENST00000538443.1_Silent_p.D8D|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	146					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			ATTCTGAAGACCAGGTTCAGA	0.463000													25	33					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026286	16026286	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:16026286C>T	ENST00000350896.3	-	4	508	c.311G>A	c.(310-312)aGc>aAc	p.S104N	MSR1_ENST00000262101.5_Missense_Mutation_p.S104N|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.S122N|MSR1_ENST00000355282.2_Missense_Mutation_p.S104N|MSR1_ENST00000381998.4_Missense_Mutation_p.S104N	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	104	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCCTCTTCGCTGTCATTTCC	0.398000													43	55					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155158006	155158006	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:155158006C>T	ENST00000392825.3	+	9	1627	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.P354S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	354						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						ATACACTTTTCCTGGTGGCAC	0.438000													26	77					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20004618	20004618	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:20004618C>T	ENST00000400230.2	-	17	1336	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	TPTE2_ENST00000400103.2_Missense_Mutation_p.G320E|TPTE2_ENST00000382978.1_Missense_Mutation_p.G391E|TPTE2_ENST00000255310.6_Missense_Mutation_p.G354E|TPTE2_ENST00000382977.4_Missense_Mutation_p.G431E|TPTE2_ENST00000390680.2_Missense_Mutation_p.G354E|TPTE2_ENST00000382975.4_Missense_Mutation_p.G391E|TPTE2_ENST00000457266.2_Missense_Mutation_p.G320E			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	431	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGAACAATTTCCTAATGAAGT	0.328000													5	24					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160294897	160294897	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:160294897G>A	ENST00000392783.2	-	8	1705	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P402S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P404S|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P402S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCAGGAGAAGGAACTATGAGT	0.363000													15	26					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486746	25486746	+	RNA	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:25486746C>T	ENST00000453082.2	+	0	2065					NR_003343.1																						GCCCACTTTTCCTGGGCCAGT	0.602000													11	8					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064399	78064399	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:78064399G>A	ENST00000299642.4	+	3	367	c.282G>A	c.(280-282)ttG>ttA	p.L94L	CLEC3A_ENST00000575655.1_Silent_p.L85L|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	85	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CAGAAGGTTTGAAGCATTTCC	0.438000													14	37					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799718	5799718	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5799718C>T	ENST00000317093.2	-	1	179	c.147G>A	c.(145-147)ggG>ggA	p.G49G	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GACCAAGATTCCCCACAAGGA	0.423000													50	68					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348904	348904	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:348904C>T	ENST00000604971.1	+	4	1375	c.262C>T	c.(262-264)Ccg>Tcg	p.P88S	DUSP22_ENST00000603453.1_Missense_Mutation_p.P88S|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.P191S|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000605315.1_Missense_Mutation_p.P88S			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				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)		GAGCAGTTTTCCGGCACTGGC	0.572000													7	15					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850827	13850827	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:13850827C>T	ENST00000284951.5	-	13	1201	c.1127G>A	c.(1126-1128)gGg>gAg	p.G376E	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G376E			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	376						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGACCAAGCCCATGAAGGCC	0.328000													18	40					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008109	120008109	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:120008109G>A	ENST00000341846.5	-	1	1052	c.631C>T	c.(631-633)Cac>Tac	p.H211Y		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	211					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGCAGCTGGTGGTCTCGGAAG	0.642000													20	5					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30065650	30065650	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:30065650C>T	ENST00000201979.2	+	3	653	c.360C>T	c.(358-360)acC>acT	p.T120T		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	120					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGAGGACCCTCACGGTGG	0.582000													11	12					0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78601371	78601371	+	Missense_Mutation	SNP	G	G	A	rs138793126		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:78601371G>A	ENST00000370759.3	+	6	1085	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	298						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTCCCAGACGAATTTGTCTT	0.423000													14	22					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12618858	12618858	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:12618858C>T	ENST00000425538.1	+	3	344	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MYOCD_ENST00000343344.4_Silent_p.F48F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	48					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)		CAGCTGAATTCCATGAGCAAA	0.413000													11	19					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964900	196964900	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196964900G>A	ENST00000367414.5	+	5	789	c.733G>A	c.(733-735)Gag>Aag	p.E245K	CFHR5_ENST00000256785.4_Missense_Mutation_p.E221K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	221	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGAAGTTAAGGAGATAAGAAA	0.343000													53	35					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565085	58565085	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:58565085G>A	ENST00000282326.1	+	6	1140	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCGACTGTGGGATGGTCTTC	0.632000													67	7					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513772	95513772	+	RNA	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:95513772G>A	ENST00000432432.2	-	0	839					NR_040113.1																						TTTGTCAAATGATGAGAAATA	0.348000													25	351					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286524	71286524	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:71286524C>T	ENST00000283228.2	-	2	744	c.292G>A	c.(292-294)Gcc>Acc	p.A98T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	98					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCATCCATGGCCAGCAGATTG	0.458000													45	70					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25806357	25806357	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:25806357C>T	ENST00000399878.3	-	10	1704	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	SEL1L3_ENST00000264868.5_Missense_Mutation_p.E493K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.E375K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	528						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATACAGATTCATTTTGGTTC	0.388000													9	18					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51057789	51057789	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:51057789A>G	ENST00000441560.2	+	4	894	c.413A>G	c.(412-414)aAa>aGa	p.K138R	ATL1_ENST00000354525.4_Missense_Mutation_p.K138R|ATL1_ENST00000358385.6_Missense_Mutation_p.K138R|ATL1_ENST00000357032.3_Missense_Mutation_p.K138R	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	138					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCTGATGGTAAAAAGGTATGA	0.343000													13	10					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501213	90501213	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:90501213C>T	ENST00000325643.5	+	4	1877	c.1811C>T	c.(1810-1812)cCg>cTg	p.P604L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CAAGAGAGGCCGGCCTCCTGG	0.602000													31	12					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52921820	52921820	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:52921820C>T	ENST00000354452.3	-	15	1869	c.1258G>A	c.(1258-1260)Gga>Aga	p.G420R	TCF4_ENST00000398339.1_Missense_Mutation_p.G522R|TCF4_ENST00000561831.3_Missense_Mutation_p.G260R|TCF4_ENST00000566279.1_Missense_Mutation_p.G360R|TCF4_ENST00000537578.1_Missense_Mutation_p.G396R|TCF4_ENST00000570287.2_Missense_Mutation_p.G260R|TCF4_ENST00000540999.1_Missense_Mutation_p.G396R|TCF4_ENST00000568740.1_Missense_Mutation_p.G395R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564228.1_Missense_Mutation_p.G349R|TCF4_ENST00000566286.1_Missense_Mutation_p.G417R|TCF4_ENST00000565018.2_Missense_Mutation_p.G420R|TCF4_ENST00000544241.2_Missense_Mutation_p.G349R|TCF4_ENST00000567880.1_Missense_Mutation_p.G360R|TCF4_ENST00000356073.4_Missense_Mutation_p.G420R|TCF4_ENST00000537856.3_Missense_Mutation_p.G290R|TCF4_ENST00000561992.1_Missense_Mutation_p.G290R|TCF4_ENST00000568673.1_Missense_Mutation_p.G396R|TCF4_ENST00000564999.1_Missense_Mutation_p.G420R|TCF4_ENST00000543082.1_Missense_Mutation_p.G378R|TCF4_ENST00000457482.3_Missense_Mutation_p.G260R|TCF4_ENST00000564403.2_Missense_Mutation_p.G426R|TCF4_ENST00000570177.2_Missense_Mutation_p.G290R	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	420					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCAATGATTCCATGCATGTCC	0.502000													13	19					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891334	173891334	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:173891334G>A	ENST00000264111.6	+	24	2472	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G610E|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G592E|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G543E|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G610E|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G763E|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G619E|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G763E			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	763					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCAACTGTTGGAACAGTGGGA	0.393000													15	23					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22816548	22816548	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:22816548G>A	ENST00000404138.1	+	3	618	c.107G>A	c.(106-108)aGg>aAg	p.R36K	ZBTB40_ENST00000375647.4_Missense_Mutation_p.R36K|ZBTB40_ENST00000374651.4_Missense_Mutation_p.R36K	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	36	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ATTTACTTCAGGGCTCACAAG	0.547000													57	6					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123160823	123160823	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:123160823A>T	ENST00000264501.4	+	29	4359	c.3986A>T	c.(3985-3987)tAt>tTt	p.Y1329F	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y1329F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y1329F			Q2LD37	K1109_HUMAN	KIAA1109	1329					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTGCTTTCTATGGGGACAAG	0.453000													23	34					0	0	1	0	0
ENTHD2	146705	broad.mit.edu	37	17	79207446	79207446	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:79207446G>A	ENST00000300714.3	-	6	503	c.446C>T	c.(445-447)cCt>cTt	p.P149L	ENTHD2_ENST00000374769.2_5'UTR|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1			ENTH domain containing 2																		ACCTGTGGCAGGCGGGGTCCC	0.667000													11	11					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284183	39284183	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:39284183G>A	ENST00000373229.5	-	5	710	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	KCNK16_ENST00000437525.2_Missense_Mutation_p.R233W|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000373227.4_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	233						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCAGGCTCCGATACACTGAG	0.607000													9	22					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56089711	56089711	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:56089711C>T	ENST00000426658.2	-	6	1928	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	CTCFL_ENST00000539382.1_Missense_Mutation_p.E218K|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000502686.2_Missense_Mutation_p.E161K|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000371196.2_Missense_Mutation_p.E423K|CTCFL_ENST00000433949.2_Missense_Mutation_p.E423K|CTCFL_ENST00000429804.2_Intron|CTCFL_ENST00000423479.2_Missense_Mutation_p.E423K|CTCFL_ENST00000422869.2_Missense_Mutation_p.E423K|CTCFL_ENST00000243914.3_Missense_Mutation_p.E423K			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	423					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.E423K(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGGACATTTTCGCCGTGTTTC	0.488000											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	91					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028361	76028361	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:76028361T>A	ENST00000319211.4	+	2	576	c.311T>A	c.(310-312)tTt>tAt	p.F104Y		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	104					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTGACACTCTTTGTCCCATCT	0.468000													35	71					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33945142	33945142	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:33945142C>T	ENST00000361328.3	+	2	406	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R85C|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	85	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCCGGAGATCCGTCTCAAAGA	0.612000													26	3					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035732	32035732	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32035732C>T	ENST00000375244.3	-	18	6451	c.6250G>A	c.(6250-6252)Gaa>Aaa	p.E2084K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2084K			P22105	TENX_HUMAN	tenascin XB	2156	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATGCTGGGTTCTGTGGGGCTG	0.632000													134	339					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668455	176668455	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:176668455A>C	ENST00000367662.3	+	8	4130	c.2966A>C	c.(2965-2967)gAa>gCa	p.E989A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	989					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCTTGCTGGAAAACAAGGAG	0.552000													67	187					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057639	56057639	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:56057639G>A	ENST00000313022.2	-	1	927	c.900C>T	c.(898-900)ctC>ctT	p.L300L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGACTCTAATGAGAGCATTTT	0.353000													37	60					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155295205	155295205	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:155295205G>A	ENST00000392825.3	+	12	2064	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	GALNT13_ENST00000409237.1_Missense_Mutation_p.M499I|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	499	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCCACCATATGAGAGGAAATC	0.333000													24	34					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267425	124267425	+	Silent	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:124267425T>A	ENST00000395571.3	-	3	1379	c.762A>T	c.(760-762)gcA>gcT	p.A254A	ZHX1_ENST00000297857.2_Silent_p.A254A|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.A254A	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	254					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GAAGAACTGCTGCTGGTGTCA	0.408000													35	43					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361388	70361388	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:70361388G>A	ENST00000305107.6	-	1	238	c.192C>T	c.(190-192)ttC>ttT	p.F64F	UGT2B4_ENST00000512583.1_Silent_p.F64F|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	64					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						TGTTGGGATCGAAAGAAATGG	0.398000													28	45					0	0	1	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247008	26247008	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:26247008C>T	ENST00000244537.4	-	1	251	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	66					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTACCAGATCACATTTTCCA	0.602000													16	32					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204774	56204774	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:56204774C>T	ENST00000361673.3	-	5	2858	c.2645G>A	c.(2644-2646)gGc>gAc	p.G882D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	882							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GACTGAGTTGCCGTCCTTGCT	0.438000													18	26					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101099714	101099714	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:101099714G>A	ENST00000376865.1	+	10	457	c.449_splice	c.e10-1	p.Q150_splice		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	150					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CTTTTTTTAGGATTCAGTGGT	0.338000													9	12					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170079	32170079	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32170079C>T	ENST00000375023.3	-	21	3667	c.3529G>A	c.(3529-3531)Ggg>Agg	p.G1177R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1177					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						CCCTCACACCCCTTGGCTCCG	0.667000													78	230					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160031580	160031580	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:160031580C>T	ENST00000263635.6	+	12	1857	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	TANC1_ENST00000454300.1_Silent_p.D434D	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	540						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTACAGAGACCTTCTGATAA	0.592000													49	75					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681855	189681855	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:189681855G>A	ENST00000319332.5	-	14	2123	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	LEPREL1_ENST00000427335.2_Silent_p.I461I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	642	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGAGAAGCTGATCATGCGCC	0.448000													32	34					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156504511	156504511	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:156504511G>A	ENST00000361170.2	-	29	3532	c.3522C>T	c.(3520-3522)ctC>ctT	p.L1174L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1174	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTAGTACAGGAGGTTCCCGA	0.637000													4	14					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161174018	161174018	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161174018C>T	ENST00000308192.9	+	19	2421	c.2358C>T	c.(2356-2358)cgC>cgT	p.R786R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	786	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCTGTGCACGCCCCAATAAGC	0.473000													10	18					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073519	73073519	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:73073519C>T	ENST00000263674.3	+	14	5086	c.4736C>T	c.(4735-4737)cCg>cTg	p.P1579L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1579					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGACGGCACCGGAGCCCGCC	0.706000													10	19					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82366918	82366918	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:82366918C>T	ENST00000509081.1	-	7	1022	c.801G>A	c.(799-801)ttG>ttA	p.L267L	RASGEF1B_ENST00000335927.7_Silent_p.L226L|RASGEF1B_ENST00000264400.2_Silent_p.L268L			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	268	Ras-GEF.				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						CTGTAGCAACCAAGTAGCTGA	0.363000													10	15					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118123394	118123394	+	Silent	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:118123394T>C	ENST00000365713.2	+	3	1123	c.960T>C	c.(958-960)tgT>tgC	p.C320C	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Silent_p.C105C|LONRF3_ENST00000304778.7_Silent_p.C320C|LONRF3_ENST00000371628.3_Silent_p.C361C			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	361					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCCCACATTGTTCTAGTCAGG	0.502000													30	9					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863813	192863813	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:192863813C>T	ENST00000392314.1	-	6	1049	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	TMEFF2_ENST00000272771.5_Missense_Mutation_p.E220K|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	220	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GACATGACTTCAATTTTCTCC	0.358000													28	49					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46488859	46488859	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:46488859C>T	ENST00000231751.4	-	10	1538	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	LTF_ENST00000417439.1_Missense_Mutation_p.G413R|LTF_ENST00000426532.2_Missense_Mutation_p.G371R	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	415	Transferrin-like 2.			G -> E (in Ref. 4; AAA59511).	cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACATATCCTCCATCCAAACTC	0.502000													54	106					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186460032	186460032	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:186460032G>A	ENST00000265023.4	+	10	2059	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	616					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AAATGTCCTGGACGCCCCTGG	0.408000													41	56					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19384447	19384447	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:19384447G>A	ENST00000263208.5	-	7	773	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	HIRA_ENST00000340170.4_Missense_Mutation_p.H173Y|HIRA_ENST00000541063.1_Missense_Mutation_p.H129Y|HIRA_ENST00000546308.1_Missense_Mutation_p.H129Y	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	173					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.H173Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAGCCAGAATGACCTCTCAGA	0.488000													35	29					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127941	152127941	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:152127941G>A	ENST00000316073.3	-	3	1698	c.1634C>T	c.(1633-1635)tCc>tTc	p.S545F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	545	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAACTCTGGCC	0.527000													468	333					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960037	215960037	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:215960037C>T	ENST00000366943.2	-	52	10748	c.10362G>A	c.(10360-10362)ggG>ggA	p.G3454G	USH2A_ENST00000307340.3_Silent_p.G3454G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3454	Fibronectin type-III 19.				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)		TGTTTACACTCCCTGTATGAA	0.438000										HNSCC(13;0.011)			43	41					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28343131	28343131	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:28343131C>T	ENST00000337532.5	-	18	1870	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	MPP7_ENST00000375719.3_Missense_Mutation_p.E532K|MPP7_ENST00000375732.1_Missense_Mutation_p.E532K|MPP7_ENST00000540098.1_Missense_Mutation_p.E532K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	532	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TATTGACTTTCCATTATCTGT	0.308000													10	2					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974140	35974140	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:35974140T>C	ENST00000297866.5	+	8	1303	c.1237T>C	c.(1237-1239)Ttt>Ctt	p.F413L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	413										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTACTACAGTTTGATCCAGG	0.368000													32	12					0	0	1	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414682	85414682	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:85414682C>T	ENST00000295886.4	-	3	1085	c.864G>A	c.(862-864)cgG>cgA	p.R288R	NKX6-1_ENST00000515820.2_Silent_p.R14R	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	288					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TCCACTTGGTCCGGCGGTTCT	0.617000													20	35					0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37882171	37882171	+	Silent	SNP	G	G	A	rs77701703	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:37882171G>A	ENST00000356998.3	-	1	268	c.45C>T	c.(43-45)acC>acT	p.T15T	MFNG_ENST00000416983.3_Silent_p.T15T	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	15					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TGCACAGGAGGGTGAGGAGGG	0.692000													11	19					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003117	120003117	+	Silent	SNP	G	G	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:120003117G>C	ENST00000354888.5	+	3	549	c.45G>C	c.(43-45)gtG>gtC	p.V15V	STEAP3_ENST00000393107.2_Silent_p.V15V|STEAP3_ENST00000393106.2_Silent_p.V15V|STEAP3_ENST00000425223.2_Silent_p.V15V|STEAP3_ENST00000393110.2_Silent_p.V25V|STEAP3_ENST00000450943.2_Silent_p.V15V|STEAP3_ENST00000409811.1_Silent_p.V15V|STEAP3_ENST00000393108.2_Silent_p.V15V|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	15					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCCACCTGGTGGACAGCGATA	0.617000													17	30					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18413814	18413814	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:18413814C>T	ENST00000440756.2	-	15	2941	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	PSD3_ENST00000286485.8_Missense_Mutation_p.E411K|PSD3_ENST00000327040.8_Missense_Mutation_p.E945K|PSD3_ENST00000428502.2_Missense_Mutation_p.E274K|PSD3_ENST00000523619.1_Missense_Mutation_p.E880K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	946					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCGGCCAGCTCGGTGGTGATC	0.468000													39	55					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223786022	223786022	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:223786022T>C	ENST00000357430.3	+	8	1361	c.830T>C	c.(829-831)tTg>tCg	p.L277S	ACSL3_ENST00000392066.3_Missense_Mutation_p.L277S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	277					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGCAAACCATTGCCCTCAGAT	0.378000			T	ETV1	prostate								33	34					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048175	20048175	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:20048175G>A	ENST00000400230.2	-	6	315	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.L91F|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54F|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91F|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54F|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91F|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	91						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGGCAAGGAGGAGAGTGACA	0.294000													26	59					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507651	155507651	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:155507651A>G	ENST00000302053.3	-	5	1008	c.930T>C	c.(928-930)ccT>ccC	p.P310P	FGA_ENST00000403106.3_Silent_p.P310P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	310					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGAGCTCCCAGGGTTTCGGT	0.572000													51	56					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621102	135621102	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:135621102G>T	ENST00000356140.5	+	5	523	c.387G>T	c.(385-387)atG>atT	p.M129I	ACMSD_ENST00000283054.4_Missense_Mutation_p.M71I|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.M71I	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	129					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TCAAGGAGATGGAGCGCTGTG	0.607000													21	25					7.45023e-12	7.51674e-12	1	1	0
PENK	5179	broad.mit.edu	37	8	57354406	57354406	+	Missense_Mutation	SNP	G	G	A	rs148519224		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:57354406G>A	ENST00000314922.3	-	2	305	c.229C>T	c.(229-231)Cct>Tct	p.P77S	PENK_ENST00000451791.2_Missense_Mutation_p.P77S|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	77					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.P77S(1)		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)			CCATCTTGAGGAAGCTCTGGT	0.483000													44	68					0	0	1	0	0
QRFP	347148	broad.mit.edu	37	9	133769000	133769000	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:133769000T>C	ENST00000343079.1	-	1	225	c.226A>G	c.(226-228)Aca>Gca	p.T76A		NM_198180.1	NP_937823.1	P83859	OX26_HUMAN	pyroglutamylated RFamide peptide	76					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CTGCCCGATGTCTGCAGCCCC	0.667000													31	13					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95757591	95757591	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:95757591C>T	ENST00000311106.3	-	5	850	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PCSK1_ENST00000508626.1_Missense_Mutation_p.E158K|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	205	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.E205*(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACTTGTTCTCGTTTGTGGGA	0.338000													56	69					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179772	124179772	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:124179772C>T	ENST00000357821.2	-	1	961	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGCTTTCTTCACATCCTTAT	0.408000													18	5					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110230181	110230181	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:110230181G>A	ENST00000418703.2	-	11	1972	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	TRPV4_ENST00000346520.2_Silent_p.I566I|TRPV4_ENST00000261740.2_Silent_p.I626I|TRPV4_ENST00000536838.1_Silent_p.I592I|TRPV4_ENST00000544971.1_Silent_p.I519I|TRPV4_ENST00000541794.1_Silent_p.I579I|TRPV4_ENST00000537083.1_Silent_p.I566I|TRPV4_ENST00000392719.2_Silent_p.I579I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	626					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.I626I(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAGCGTAGCCGATCATGAAGA	0.532000													15	27					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781512	52781512	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:52781512C>T	ENST00000245457.5	+	1	400	c.246C>T	c.(244-246)acC>acT	p.T82T	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	82						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGCTCGGGACCTGCCTCATCA	0.687000													20	20					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100379	121100379	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:121100379G>A	ENST00000273666.6	+	23	2930	c.2659_splice	c.e23+1	p.G887_splice	STXBP5L_ENST00000471454.1_Splice_Site_p.G863_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.G861_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.G887_splice|STXBP5L_ENST00000472879.1_Splice_Site_p.G863_splice	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	887					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)		ATTGCCAAGTGGTAAGAGTTT	0.343000													39	41					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198719	55198719	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:55198719G>A	ENST00000340465.2	+	3	379	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	98						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAACTGCTTGGAAAAAAATGT	0.294000													40	57					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98828474	98828474	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:98828474G>A	ENST00000477737.1	+	13	2023	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	VWA3B_ENST00000435344.1_Missense_Mutation_p.D607N|VWA3B_ENST00000451075.2_Missense_Mutation_p.D457N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	607	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTCTGACCGATGGGAGACC	0.483000													23	33					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62197147	62197147	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:62197147G>A	ENST00000467148.1	-	8	3097	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	HELZ2_ENST00000427522.2_Missense_Mutation_p.R441C	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTGATGTCACGGGATGCTGGG	0.682000													4	12					0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397577	49397577	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:49397577C>T	ENST00000548065.1	-	9	1122	c.666G>A	c.(664-666)caG>caA	p.Q222Q	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000316299.5_Silent_p.Q231Q|PRKAG1_ENST00000547306.1_Silent_p.Q171Q|PRKAG1_ENST00000395170.3_Silent_p.Q138Q|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Silent_p.Q190Q			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	222	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						AGACTCGATGCTGTACAAAAA	0.542000													55	80					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2552877	2552877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:2552877G>A	ENST00000402506.1	+	2	260	c.134G>A	c.(133-135)tGg>tAg	p.W45*		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		acggacagatggacagatgga	0.557000													44	279					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516537	140516537	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140516537G>A	ENST00000231134.5	+	1	1738	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		507	Cadherin 5.				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)			CCATCAACGCGGACAACGGCC	0.677000													49	49					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16025993	16025993	+	Nonsense_Mutation	SNP	G	G	A	rs148631001		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:16025993G>A	ENST00000350896.3	-	4	801	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	MSR1_ENST00000262101.5_Nonsense_Mutation_p.Q202*|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Nonsense_Mutation_p.Q220*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.Q202*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.Q202*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	202					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTATTCTCTTGGATTTTGCCA	0.403000													11	31					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151265878	151265878	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:151265878G>A	ENST00000287878.4	-	11	1661	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	PRKAG2_ENST00000433631.2_Missense_Mutation_p.P261L|PRKAG2_ENST00000418337.2_Missense_Mutation_p.P145L|PRKAG2_ENST00000492843.1_Missense_Mutation_p.P262L|PRKAG2_ENST00000392801.2_Missense_Mutation_p.P342L	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	386	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GTCAATAACGGGCAATCTGTG	0.383000													4	20					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243434	46243434	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:46243434T>A	ENST00000334344.6	+	14	1959	c.1787T>A	c.(1786-1788)gTg>gAg	p.V596E	ARID2_ENST00000422737.1_Missense_Mutation_p.V447E|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.V206E	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	596					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATATTCATGTGGTAGGAGTA	0.418000			"""N, S, F"""		hepatocellular carcinoma								36	63					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802718	185802718	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:185802718C>T	ENST00000302277.6	+	4	3189	c.2595C>T	c.(2593-2595)atC>atT	p.I865I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	865						intracellular	zinc ion binding	p.I865I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGCAAAAATCGAAAGGAACT	0.358000													21	23					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242234	87242234	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:87242234C>T	ENST00000297524.3	-	1	376	c.273G>A	c.(271-273)acG>acA	p.T91T	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.T91T	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	91						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAAAAGCAACCGTGGAGCCAA	0.463000													12	23					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886864	55886864	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:55886864G>A	ENST00000379662.1	+	1	718	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.A235T			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AAAGAAAAAAGCCTTTTCTAC	0.338000													21	16					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898195	36898195	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:36898195C>T	ENST00000301807.6	-	12	3133	c.1236G>A	c.(1234-1236)agG>agA	p.R412R	TRANK1_ENST00000429976.2_Silent_p.R962R|TRANK1_ENST00000428977.2_Silent_p.R412R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	962					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						TGACATGCTCCCTGCCCTTCT	0.473000													66	106					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740300	2740300	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:2740300A>G	ENST00000312371.4	+	2	583	c.215A>G	c.(214-216)gAg>gGg	p.E72G	AMZ1_ENST00000407112.1_Missense_Mutation_p.E72G	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	72							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCGACCCGAGGCTCCCGAG	0.672000													26	320					0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954344	64954344	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:64954344G>A	ENST00000394715.1	-	6	1306	c.605C>T	c.(604-606)tCc>tTc	p.S202F	ZBTB25_ENST00000261683.2_Missense_Mutation_p.S202F|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	202						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		CTGCTTGATGGAAACTGGGGG	0.567000													65	106					0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15102817	15102817	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:15102817G>A	ENST00000228945.4	-	3	328	c.184C>T	c.(184-186)Ccg>Tcg	p.P62S	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.P62S|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.P62S	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	62					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GGGGCTTTCGGATCTGCAGGA	0.483000													40	62					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1547058	1547058	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:1547058C>T	ENST00000262319.6	+	4	914	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	212						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCCTCCGTGTCCTTCGTGTCT	0.612000													12	10					0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6066301	6066301	+	Silent	SNP	C	C	T	rs36065822		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:6066301C>T	ENST00000379959.3	-	3	446	c.273G>A	c.(271-273)acG>acA	p.T91T	IL2RA_ENST00000379954.1_Silent_p.T91T|IL2RA_ENST00000256876.6_Silent_p.T91T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	91					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCACTTGTTTCGTTGTGTTCC	0.413000													19	10					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105970251	105970251	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:105970251C>T	ENST00000255499.2	+	1	358	c.108C>T	c.(106-108)tcC>tcT	p.S36S	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	36						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						CACCCGGTTCCCGGGGGGCTG	0.697000													4	3					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15264278	15264278	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:15264278C>T	ENST00000256953.2	-	4	528	c.192_splice	c.e4+1	p.Q64_splice	RERG_ENST00000536465.1_Splice_Site_p.Q64_splice|RERG_ENST00000537647.1_Silent_p.Q64Q|RERG_ENST00000546331.1_Splice_Site_p.Q45_splice|RERG_ENST00000538313.1_Splice_Site_p.Q64_splice	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	64					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTATTCACCTGACCAGCAG	0.353000													20	61					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234040833	234040833	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:234040833C>T	ENST00000366618.3	+	1	155	c.10C>T	c.(10-12)Cga>Tga	p.R4*		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)			TATGGGGATTCGAGAGTTTCC	0.711000													3	2					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183717789	183717789	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:183717789G>A	ENST00000511685.1	+	27	7336		c.e27-1		TENM3_ENST00000406950.2_Splice_Site					teneurin transmembrane protein 3																		TCTTCTCCTAGATGTTAACAG	0.343000													10	24					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22056887	22056887	+	Silent	SNP	A	A	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:22056887A>G	ENST00000256906.4	+	3	634	c.534A>G	c.(532-534)acA>acG	p.T178T	HRH4_ENST00000426880.2_Silent_p.T90T	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	178						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TTGCCATCACATCATTCTTGG	0.413000													46	62					0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122097174	122097174	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:122097174T>G	ENST00000355329.3	-	2	396	c.226A>C	c.(226-228)Acc>Ccc	p.T76P		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	76										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AGGCTGAGGGTGCCGTAGCCG	0.567000													13	49					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32091189	32091189	+	Silent	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:32091189C>T	ENST00000396184.3	-	3	309	c.105G>A	c.(103-105)agG>agA	p.R35R	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Silent_p.R35R|PDE1C_ENST00000396191.1_Silent_p.R35R|PDE1C_ENST00000396182.2_Silent_p.R35R	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	35					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCTTATATTTCCTCCTGTAAG	0.468000													7	18					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	79					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77451871	77451871	+	Silent	SNP	G	G	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:77451871G>T	ENST00000308488.6	-	4	785	c.483C>A	c.(481-483)ctC>ctA	p.L161L	RSF1_ENST00000360355.2_Silent_p.L130L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	161					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)			ACCAGTACATGAGGCCATCTT	0.398000													18	37					1.99824e-07	2.01055e-07	1	1	0
SH3BP1	23616	broad.mit.edu	37	22	38035853	38035853	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38035853G>A	ENST00000357436.4	+	1	372	c.59_splice	c.e1+1	p.R20_splice	SH3BP1_ENST00000442465.2_Splice_Site_p.R20_splice|SH3BP1_ENST00000336738.5_Splice_Site_p.R20_splice	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	20	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGCTTGGGACGGTGAGTGTCA	0.697000													4	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727622	13727622	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13727622G>A	ENST00000265104.4	-	70	12131	c.12027C>T	c.(12025-12027)atC>atT	p.I4009I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4009					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTACCTGGGCGATGGTTCTGT	0.338000									Kartagener syndrome				15	19					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109507818	109507818	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:109507818G>A	ENST00000356711.2	+	11	1336	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	MYO16_ENST00000357550.2_Missense_Mutation_p.D404N|MYO16_ENST00000251041.5_Missense_Mutation_p.D404N	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	404	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCCCCAAACGATGACCTGGC	0.473000													27	18					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556605	52556605	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:52556605G>A	ENST00000262094.5	+	6	1139	c.618G>A	c.(616-618)ttG>ttA	p.L206L	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	206					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTGGAAACTTGGATGGGGAAA	0.393000													11	20					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414258	179414258	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:179414258G>A	ENST00000367618.3	+	16	2104	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	AXDND1_ENST00000457238.2_Missense_Mutation_p.E573K|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	573								p.E573*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GATGCCATCAGAGCGACAGTA	0.348000													27	27					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107822868	107822868	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:107822868C>T	ENST00000375915.2	-	3	1492	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	452						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGAGTTTTCTTCCAGCGTG	0.517000													38	22					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305175	61305175	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:61305175C>T	ENST00000341074.5	-	8	1066	c.951G>A	c.(949-951)atG>atA	p.M317I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.M265I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GGCTCCAGGTCATGCCTGAGA	0.517000													32	48					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46280657	46280657	+	Silent	SNP	G	G	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:46280657G>A	ENST00000600757.1	-	7	1791	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	DMPK_ENST00000291270.4_Silent_p.F358F|DMPK_ENST00000343373.4_Silent_p.F368F|DMPK_ENST00000447742.2_Silent_p.F358F|DMPK_ENST00000458663.2_Silent_p.F358F|DMPK_ENST00000354227.5_Silent_p.F358F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	368	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F358F(1)|p.F368F(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGGCACCTTCGAAATCCGGTG	0.647000													63	7					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978897	247978897	+	Missense_Mutation	SNP	C	C	T	rs140410550		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:247978897C>T	ENST00000357627.1	-	1	134	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGTTGTGATCATGATAATGA	0.393000													18	48					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247319908	247319909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:247319908_247319909insT	ENST00000340684.6	-	4	967_968	c.829_830insA	c.(829-831)tcafs	p.S277fs	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000543802.2_Frame_Shift_Ins_p.S339fs|ZNF124_ENST00000472531.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T277P(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCCAGTATGAGTTTTTTTATGC	0.366													35	34	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196922781	196922781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:196922781delA	ENST00000312428.6	-	2	175	c.75delT	c.(73-75)tcfs	p.S25fs	DNAH7_ENST00000410072.1_Frame_Shift_Del_p.S25fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	25	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATTACCATAGACAGCTGTG	0.308													22	58	---	---	---	---					
DDIT4L	115265	broad.mit.edu	37	4	101109270	101109271	+	In_Frame_Ins	INS	-	-	ATATTACCT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:101109270_101109271insATATTACCT	ENST00000273990.2	-	3	359_360	c.145_146insAGGTAATAT	c.(145-147)tga>AGGTAATATtga	p.48_49insR*Y	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	48					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TGATTCCTCAAATATTACCTCG	0.366													12	58	---	---	---	---					
DHCR7	1717	broad.mit.edu	37	11	71152336	71152339	+	Frame_Shift_Del	DEL	CCAA	CCAA	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:71152336_71152339delCCAA	ENST00000355527.3	-	6	836_839	c.560_563delTTGG	c.(559-564)ccfs	p.LG187fs	DHCR7_ENST00000407721.2_Frame_Shift_Del_p.LG187fs	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	187					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GACGGCATAGCCAAGGATGTTGGC	0.564									Smith-Lemli-Opitz syndrome				25	40	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													7	54	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407164	89407165	+	RNA	INS	-	-	T	rs72449667		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													4	7	---	---	---	---					
RECQL	5965	broad.mit.edu	37	12	21639515	21639515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:21639515delA	ENST00000444129.2	-	5	867	c.399delT	c.(397-399)ttfs	p.F133fs	RECQL_ENST00000421138.2_Frame_Shift_Del_p.F133fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	133	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGACGAGTGTAAAACCTAAAA	0.294								Other identified genes with known or suspected DNA repair function					7	30	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974518	93974519	+	RNA	INS	-	-	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:93974518_93974519insG	ENST00000543286.1	+	0	545																											TTCttttttttttttttttttt	0.446													7	13	---	---	---	---					
CCNF	899	broad.mit.edu	37	16	2493679	2493680	+	In_Frame_Ins	INS	-	-	AAC			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:2493679_2493680insAAC	ENST00000397066.4	+	9	895_896	c.807_808insAAC	c.(805-810)gcacca>gcAACacca	p.269_270AP>ATP		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	269					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GTGCAAATGCAAACCAGCTTGG	0.485													32	60	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064536	9064536	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9064536delT	ENST00000397910.4	-	3	23113	c.22910delA	c.(22909-22911)atfs	p.N7637fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7639	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						TGTGTTCAAATTAAGGGTACT	0.483													58	7	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40376854	40376856	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:40376854_40376856delCTT	ENST00000221347.6	-	24	11573_11575	c.11566_11568delAAG	c.(11566-11568)del	p.K3856del		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3856	VWFD 9.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTCTGATACTTCTTCTCCAGC	0.655													11	14	---	---	---	---