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
SLC16A10	117247	broad.mit.edu	37	6	111409193	111409193	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:111409193T>C	ENST00000368851.5	+	1	413	c.238T>C	c.(238-240)Tgc>Cgc	p.C80R		NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	80					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGCCATGTGGTGCAACGGGTC	0.662000													6	20					0	0	0.248553	0	0
DNAH10	196385	broad.mit.edu	37	12	124341683	124341683	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:124341683G>T	ENST00000409039.3	+	36	6190	c.6165G>T	c.(6163-6165)ttG>ttT	p.L2055F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2055					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)		TCCTTGGTTTGATTTCGGATC	0.532000													6	54					0.00307968	0.00334215	0.278610	1	0
PTBP2	58155	broad.mit.edu	37	1	97272478	97272478	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:97272478C>T	ENST00000236228.6	+	11	1217	c.1135C>T	c.(1135-1137)Cta>Tta	p.L379L	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.L384L|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000426398.2_Silent_p.L379L|PTBP2_ENST00000394184.3_Silent_p.L395L|PTBP2_ENST00000370197.1_Silent_p.L384L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	379	RRM 3.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGACAGCGCTCTAATACAGAT	0.348000													4	52					0	0	0.217242	0	0
TIMD4	91937	broad.mit.edu	37	5	156349204	156349204	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:156349204C>A	ENST00000274532.2	-	7	974	c.918G>T	c.(916-918)atG>atT	p.M306I	TIMD4_ENST00000407087.3_Missense_Mutation_p.M278I|TIMD4_ENST00000406964.1_Missense_Mutation_p.M8I	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	306						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTCATTCTTCATTGACATGG	0.502000													5	28					3.59834e-05	4.21646e-05	0.217242	1	0
NUP88	4927	broad.mit.edu	37	17	5290432	5290432	+	Splice_Site	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:5290432T>C	ENST00000573584.1	-	15	2426		c.e15-2			NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTTTTCATCCTTTAGAAAAGG	0.373000													11	29					0	0	0.361761	0	0
TANC1	85461	broad.mit.edu	37	2	160031502	160031502	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:160031502C>G	ENST00000263635.6	+	12	1779	c.1542C>G	c.(1540-1542)taC>taG	p.Y514*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.Y408*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	514						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						ACAACACGTACACTTGCCTGG	0.577000													46	308					0	0	0.870114	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419778	5419778	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr18:5419778C>T	ENST00000341928.2	-	12	1778	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E498K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E480K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E498K|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E498K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	480	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						tcctcttcctcgtcccgctcc	0.572000													9	46					0	0	0.307466	0	0
ZNF415	55786	broad.mit.edu	37	19	53611805	53611805	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:53611805C>A	ENST00000455735.2	-	7	1957	c.1637G>T	c.(1636-1638)tGt>tTt	p.C546F	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.C546F|ZNF415_ENST00000440291.1_Missense_Mutation_p.C485F|ZNF415_ENST00000421033.1_Missense_Mutation_p.C510F|ZNF415_ENST00000243643.4_Missense_Mutation_p.C498F|ZNF415_ENST00000500065.4_Missense_Mutation_p.C498F|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.C268F|ZNF415_ENST00000597748.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ACACTCATTACATTTGTAAGG	0.413000													25	161					4.87955e-14	6.42755e-14	0.693898	1	0
NCAM2	4685	broad.mit.edu	37	21	22906914	22906914	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:22906914C>A	ENST00000400546.1	+	17	2588	c.2339C>A	c.(2338-2340)aCt>aAt	p.T780N	NCAM2_ENST00000284894.7_Missense_Mutation_p.T638N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	780					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAAAGAGTTACTAATCACGAA	0.398000													8	32					0.00448238	0.00483692	0.307466	1	0
TPTE	7179	broad.mit.edu	37	21	10920139	10920139	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:10920139C>T	ENST00000298232.7	-	18	1428	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	TPTE_ENST00000342420.5_Missense_Mutation_p.R334K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R372K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	372	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)		ATCTGTTCGCCTTTCTCCAAA	0.378000													15	131					0	0	0.539581	0	0
RPL36	25873	broad.mit.edu	37	19	5691434	5691434	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:5691434C>A	ENST00000577222.1	+	5	742	c.198C>A	c.(196-198)gaC>gaA	p.D66E	RPL36_ENST00000347512.3_Missense_Mutation_p.D66E|RPL36_ENST00000394580.2_Missense_Mutation_p.D66E|RPL36_ENST00000579649.1_Missense_Mutation_p.D66E|RPL36_ENST00000579446.1_Missense_Mutation_p.D66E			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	66					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						TCTCCAAGGACAAACGGGCCC	0.627000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	77					0.00185496	0.00203619	0.435327	1	0
STK10	6793	broad.mit.edu	37	5	171517330	171517330	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:171517330G>A	ENST00000176763.5	-	10	1934	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	531							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAAATTTGCGTGTCCGCTTG	0.502000													7	188					0	0	0.278610	0	0
XIST	7503	broad.mit.edu	37	X	73064328	73064328	+	RNA	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chrX:73064328T>C	ENST00000429829.1	-	0	8260					NR_001564.2																						TAGGACTTTATTCAAATAGGA	0.428000													6	17					0	0	0.217242	0	0
ABCA6	23460	broad.mit.edu	37	17	67111520	67111520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:67111520C>A	ENST00000284425.2	-	12	1777	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	535	ABC transporter 1.				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)					TACTCACCTTCTGTTGGAACA	0.358000													16	85					1.02788e-11	1.32653e-11	0.520397	1	0
SYNE1	23345	broad.mit.edu	37	6	152529258	152529258	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:152529258A>T	ENST00000367255.5	-	125	23274	c.22673T>A	c.(22672-22674)aTt>aAt	p.I7558N	SYNE1_ENST00000341594.5_Missense_Mutation_p.I7170N|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7487N|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2082N|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7487N|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7558N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7558					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)		CTGGCTGTCAATGATCCCCCG	0.502000										HNSCC(10;0.0054)			4	39					0	0	0.184627	0	0
ARHGAP5	394	broad.mit.edu	37	14	32586346	32586346	+	Splice_Site	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:32586346C>T	ENST00000345122.3	+	3	4033	c.3717_splice	c.e3-1	p.Q1240_splice	ARHGAP5_ENST00000432921.1_Intron|ARHGAP5_ENST00000556611.1_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Splice_Site_p.Q1240_splice|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1240	Lys-rich.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTCTTATAGCAGAAAAAGAA	0.323000													9	38					0	0	0.307466	0	0
USH2A	7399	broad.mit.edu	37	1	215940123	215940123	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:215940123C>G	ENST00000366943.2	-	56	11333	c.10947G>C	c.(10945-10947)caG>caC	p.Q3649H	USH2A_ENST00000307340.3_Missense_Mutation_p.Q3649H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3649	Fibronectin type-III 21.				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)		TGGTGTATGGCTGGAGACCTA	0.423000										HNSCC(13;0.011)			11	50					0	0	0.411799	0	0
CLVS1	157807	broad.mit.edu	37	8	62212794	62212794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:62212794C>A	ENST00000519846.1	+	3	880	c.408C>A	c.(406-408)taC>taA	p.Y136*	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Nonsense_Mutation_p.Y136*|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443000													9	28					2.17888e-05	2.56892e-05	0.335167	1	0
GLDN	342035	broad.mit.edu	37	15	51696913	51696913	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:51696913T>C	ENST00000335449.6	+	10	1674	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	GLDN_ENST00000396399.2_Missense_Mutation_p.Y416H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	540	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTTAATGCTTTATCCTGTGCA	0.413000													19	99					0	0	0.557998	0	0
COL22A1	169044	broad.mit.edu	37	8	139649017	139649017	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:139649017C>T	ENST00000303045.6	-	48	3969	c.3523G>A	c.(3523-3525)Gca>Aca	p.A1175T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A1155T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1175	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCACCATCTGCACCACGTTCT	0.393000										HNSCC(7;0.00092)			33	162					0	0	0.769981	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214151	3214151	+	RNA	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:3214151G>C	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CTTCTACTGTGACCTCCCACA	0.517000													24	96					0	0	0.681144	0	0
SMEK2	57223	broad.mit.edu	37	2	55808822	55808822	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:55808822T>A	ENST00000272313.5	-	8	1573	c.1246A>T	c.(1246-1248)Att>Ttt	p.I416F	SMEK2_ENST00000345102.5_Missense_Mutation_p.I416F|SMEK2_ENST00000407823.3_Missense_Mutation_p.I416F	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	416						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACATTAATAAGAAGAATA	0.373000													12	48					0	0	0.411799	0	0
COL6A6	131873	broad.mit.edu	37	3	130287412	130287412	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:130287412G>C	ENST00000358511.6	+	5	2396	c.2365G>C	c.(2365-2367)Gat>Cat	p.D789H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D789H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	789	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCGCATTGAAGATGATCTTGT	0.463000													8	85					0	0	0.307466	0	0
NCAN	1463	broad.mit.edu	37	19	19338426	19338426	+	Missense_Mutation	SNP	C	C	T	rs111534277	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:19338426C>T	ENST00000252575.5	+	8	2040	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	NCAN_ENST00000538881.1_Missense_Mutation_p.T117M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	666					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCACCGCCACGGCTCCACCC	0.612000													20	108					0	0	0.592651	0	0
UPF1	5976	broad.mit.edu	37	19	18966828	18966828	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:18966828A>G	ENST00000262803.5	+	12	1911	c.1639A>G	c.(1639-1641)Aag>Gag	p.K547E	UPF1_ENST00000599848.1_Missense_Mutation_p.K558E	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	558					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTCTGCGCCAAGAGCCGTGA	0.612000													5	18					0	0	0.217242	0	0
EYS	346007	broad.mit.edu	37	6	66094289	66094289	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:66094289C>A	ENST00000503581.1	-	8	1826	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	EYS_ENST00000370616.2_Missense_Mutation_p.G430V|EYS_ENST00000370618.3_Missense_Mutation_p.G430V|EYS_ENST00000393380.2_Missense_Mutation_p.G430V|EYS_ENST00000370621.3_Missense_Mutation_p.G430V|EYS_ENST00000342421.5_Missense_Mutation_p.G430V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	430					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTGAATCTTCCAATTATATT	0.308000													5	42					0.0215528	0.0221321	0.217242	1	0
DNMBP	23268	broad.mit.edu	37	10	101731794	101731794	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr10:101731794C>T	ENST00000342239.3	-	2	179	c.88G>A	c.(88-90)Gag>Aag	p.E30K	DNMBP_ENST00000324109.4_Missense_Mutation_p.E30K			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	30	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCCAGCACCTCAATAATATCT	0.468000													32	103					0	0	0.760397	0	0
MED13L	23389	broad.mit.edu	37	12	116445306	116445306	+	Silent	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:116445306A>G	ENST00000281928.3	-	11	2354	c.2148T>C	c.(2146-2148)taT>taC	p.Y716Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	716					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTTCAAAGGTATATGGGTCAT	0.433000													23	135					0	0	0.639603	0	0
DUS2	54920	broad.mit.edu	37	16	68112759	68112759	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:68112759G>A	ENST00000565263.1	+	17	1846	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	DUS2L_ENST00000432752.1_Missense_Mutation_p.R416Q|DUS2L_ENST00000358896.6_Missense_Mutation_p.R451Q|RP11-67A1.2_ENST00000548144.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		451					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TTGCACAAGCGAAAGAGGGAG	0.627000													13	57					0	0	0.411799	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444997	81444997	+	RNA	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr10:81444997T>C	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							ACAACAATTTTCGGGCTTGCA	0.612000													2	5					0	0	0.115264	0	0
CUL3	8452	broad.mit.edu	37	2	225365129	225365129	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:225365129T>A	ENST00000264414.4	-	11	1899	c.1561A>T	c.(1561-1563)Aag>Tag	p.K521*	CUL3_ENST00000409096.1_Nonsense_Mutation_p.K497*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.K455*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.K497*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	521					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATGTTGCACTTTGGTGTGGCT	0.413000													20	105					0	0	0.592651	0	0
ARPP21	10777	broad.mit.edu	37	3	35730853	35730853	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:35730853T>A	ENST00000187397.4	+	7	917	c.461T>A	c.(460-462)aTt>aAt	p.I154N	ARPP21_ENST00000458225.1_Missense_Mutation_p.I154N|ARPP21_ENST00000337271.5_Missense_Mutation_p.I154N|ARPP21_ENST00000417925.1_Missense_Mutation_p.I154N|ARPP21_ENST00000444190.1_Missense_Mutation_p.I154N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	154						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAGTTTCTGATTAACACATTA	0.343000													13	53					0	0	0.411799	0	0
ENPP2	5168	broad.mit.edu	37	8	120595959	120595959	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:120595959C>G	ENST00000427067.2	-	17	1709	c.1529G>C	c.(1528-1530)tGt>tCt	p.C510S	ENPP2_ENST00000075322.6_Missense_Mutation_p.C514S|ENPP2_ENST00000259486.6_Missense_Mutation_p.C566S|ENPP2_ENST00000522826.1_Missense_Mutation_p.C514S|ENPP2_ENST00000522167.1_Missense_Mutation_p.C153S			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	514					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGACTTACCACACATAACATT	0.318000													10	63					0	0	0.335167	0	0
MYO18B	84700	broad.mit.edu	37	22	26194047	26194047	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr22:26194047C>T	ENST00000335473.7	+	12	2754	c.2504C>T	c.(2503-2505)gCg>gTg	p.A835V	MYO18B_ENST00000536101.1_Missense_Mutation_p.A835V|MYO18B_ENST00000407587.2_Missense_Mutation_p.A835V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	835	Myosin head-like.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A835E(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCTGGGTGCGGCGGGGGCC	0.662000													9	17					0	0	0.457914	0	0
DNAH17	8632	broad.mit.edu	37	17	76540009	76540009	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:76540009C>A	ENST00000389840.5	-	17	2586	c.2462G>T	c.(2461-2463)aGa>aTa	p.R821I	DNAH17_ENST00000585328.1_Missense_Mutation_p.R821I					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)			GTTGGCAATTCTTCCATCCAA	0.498000													29	175					6.38683e-12	8.29854e-12	0.729181	1	0
TTLL4	9654	broad.mit.edu	37	2	219609873	219609873	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:219609873A>G	ENST00000392102.1	+	6	2043	c.1703A>G	c.(1702-1704)gAg>gGg	p.E568G	TTLL4_ENST00000442769.1_Missense_Mutation_p.E568G|TTLL4_ENST00000258398.4_Missense_Mutation_p.E568G|TTLL4_ENST00000457313.1_Missense_Mutation_p.E403G	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	568					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCCAATCATGAGAAAGTTGTC	0.473000													30	94					0	0	0.750413	0	0
C4orf21	55345	broad.mit.edu	37	4	113468532	113468532	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:113468532T>G	ENST00000505019.1	-	24	5632	c.5507A>C	c.(5506-5508)gAt>gCt	p.D1836A		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.D1836V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGTTTGGGATCCCCAACAAG	0.358000													3	19					0	0	0.115264	0	0
EYS	346007	broad.mit.edu	37	6	66094290	66094290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:66094290C>A	ENST00000503581.1	-	8	1825	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*	EYS_ENST00000370616.2_Nonsense_Mutation_p.G430*|EYS_ENST00000370618.3_Nonsense_Mutation_p.G430*|EYS_ENST00000393380.2_Nonsense_Mutation_p.G430*|EYS_ENST00000370621.3_Nonsense_Mutation_p.G430*|EYS_ENST00000342421.5_Nonsense_Mutation_p.G430*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	430					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGAATCTTCCAATTATATTG	0.308000													5	45					0.0215528	0.0221321	0.217242	1	0
IRF2	3660	broad.mit.edu	37	4	185310135	185310135	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:185310135C>T	ENST00000393593.3	-	9	1034	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	276					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G276D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGACGCCATGCCGGGCAGCAG	0.552000													4	156					0	0	0.150653	0	0
C11orf53	341032	broad.mit.edu	37	11	111156591	111156591	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:111156591G>A	ENST00000280325.4	+	4	670	c.523G>A	c.(523-525)Ggg>Agg	p.G175R		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	175										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCACACTCCGGGGTACCCTAC	0.622000													24	103					0	0	0.667858	0	0
USH2A	7399	broad.mit.edu	37	1	216373318	216373318	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:216373318T>A	ENST00000366943.2	-	17	3848	c.3462A>T	c.(3460-3462)ttA>ttT	p.L1154F	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.L1154F|USH2A_ENST00000366942.3_Missense_Mutation_p.L1154F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1154	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATATAACTTAAAGTCAAGT	0.423000										HNSCC(13;0.011)			16	95					0	0	0.539581	0	0
TNN	63923	broad.mit.edu	37	1	175046803	175046803	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:175046803C>T	ENST00000239462.4	+	2	362	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	83					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGAACAGAACATCATCTTCA	0.617000													17	50					0	0	0.500413	0	0
OR6V1	346517	broad.mit.edu	37	7	142749510	142749510	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:142749510C>T	ENST00000418316.1	+	1	94	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCAGGCCCTTCTGTATGGCCC	0.512000													4	154					0	0	0.184627	0	0
TMEM205	374882	broad.mit.edu	37	19	11456289	11456289	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:11456289C>T	ENST00000354882.5	-	1	433	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMEM205_ENST00000587948.1_Missense_Mutation_p.E3K|TMEM205_ENST00000589555.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586590.1_Missense_Mutation_p.E3K|CCDC159_ENST00000587100.1_Intron|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000588790.1_Intron|TMEM205_ENST00000593256.2_Missense_Mutation_p.E3K|TMEM205_ENST00000588560.1_Missense_Mutation_p.E3K|TMEM205_ENST00000447337.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586956.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586218.1_Intron			Q6UW68	TM205_HUMAN	transmembrane protein 205	3						integral to membrane				endometrium(1)|lung(1)	2						TTCCCGCCTTCCTCCATCTTG	0.587000													3	31					0	0	0.150653	0	0
ZNF646	9726	broad.mit.edu	37	16	31087784	31087784	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:31087784C>G	ENST00000394979.2	+	1	562	c.139C>G	c.(139-141)Ccc>Gcc	p.P47A	ZNF646_ENST00000300850.5_Missense_Mutation_p.P47A			O15015	ZN646_HUMAN	zinc finger protein 646	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CATCCCTCGGCCCTACCGTTG	0.632000													13	81					0	0	0.435327	0	0
NCOA3	8202	broad.mit.edu	37	20	46254145	46254145	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:46254145G>A	ENST00000372004.3	+	5	493	c.277G>A	c.(277-279)Gat>Aat	p.D93N	NCOA3_ENST00000341724.6_Missense_Mutation_p.D93N|NCOA3_ENST00000371997.3_Missense_Mutation_p.D93N|NCOA3_ENST00000371998.3_Missense_Mutation_p.D93N	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	93					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTCCAATGATGATGATGTTCA	0.368000													18	45					0	0	0.608945	0	0
GABRG1	2565	broad.mit.edu	37	4	46043265	46043265	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:46043265G>T	ENST00000295452.4	-	9	1305	c.1138C>A	c.(1138-1140)Cct>Act	p.P380T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	380					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGGAGACCAGGAGTCATCTGA	0.393000													5	24					8.12818e-05	9.35231e-05	0.248553	1	0
TTN	7273	broad.mit.edu	37	2	179598558	179598558	+	Silent	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:179598558G>T	ENST00000589042.1	-	53	15782	c.15558C>A	c.(15556-15558)acC>acA	p.T5186T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T4869T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T3942T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4869	Ig-like 32.						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)			CAGCTTGCAGGGTAACGGTTT	0.413000													14	72					1.3612e-06	1.65599e-06	0.479597	1	0
HIST1H1B	3009	broad.mit.edu	37	6	27834730	27834730	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:27834730G>T	ENST00000331442.3	-	1	629	c.578C>A	c.(577-579)cCc>cAc	p.P193H		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	193					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A191_A195delAKPKA(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AACTGCCTTGGGCTTGGCAGG	0.572000													19	77					1.2644e-06	1.54808e-06	0.592651	1	0
KIF9	64147	broad.mit.edu	37	3	47277951	47277951	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:47277951G>A	ENST00000335044.2	-	18	2440	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	KIF9_ENST00000352910.4_Missense_Mutation_p.R537C|KIF9_ENST00000265529.3_Missense_Mutation_p.R695C|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Missense_Mutation_p.R630C|KIF9_ENST00000452770.2_Missense_Mutation_p.R695C	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	695					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGCGGTGGCGACACTGATCC	0.592000													11	31					0	0	0.479597	0	0
GZMH	2999	broad.mit.edu	37	14	25076508	25076508	+	Silent	SNP	A	A	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:25076508A>C	ENST00000216338.4	-	4	488	c.444T>G	c.(442-444)ggT>ggG	p.G148G	RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	148	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TTGAGACATAACCCCAGCCAG	0.557000													10	65					0	0	0.693898	0	0
FBXL7	23194	broad.mit.edu	37	5	15928334	15928334	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:15928334A>T	ENST00000504595.1	+	3	944	c.463A>T	c.(463-465)Agg>Tgg	p.R155W	FBXL7_ENST00000329673.7_Missense_Mutation_p.R143W|FBXL7_ENST00000510662.1_Missense_Mutation_p.R108W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	155	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCGGCTCTGGAGGACTATCCG	0.657000													4	8					0	0	0.150653	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060815	35060815	+	Missense_Mutation	SNP	G	G	A	rs141000110	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:35060815G>A	ENST00000373913.3	+	3	1175	c.695G>A	c.(694-696)cGc>cAc	p.R232H	DLGAP4_ENST00000401952.2_Missense_Mutation_p.R232H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R232H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R232H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	232					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACACTAGGCCGCCAGGCAGAA	0.597000													9	85					0	0	0.361761	0	0
ATP9B	374868	broad.mit.edu	37	18	76873335	76873335	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr18:76873335A>G	ENST00000426216.2	+	4	556	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000586722.1_Missense_Mutation_p.Y180C|ATP9B_ENST00000307671.7_Missense_Mutation_p.Y180C|ATP9B_ENST00000458297.2_Missense_Mutation_p.Y128C	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	180					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCTATCTCTACACCTACTGG	0.289000													6	39					0	0	0.278610	0	0
NF1	4763	broad.mit.edu	37	17	29548868	29548868	+	Splice_Site	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:29548868G>T	ENST00000358273.4	+	15	2025	c.1641_splice	c.e15-1	p.A548_splice	NF1_ENST00000356175.3_Splice_Site_p.A548_splice|NF1_ENST00000431387.4_Splice_Site_p.A548_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	548					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)		AAAAATTCAGGCTCTGCTGGT	0.313000			"""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)			4	40					0.00909568	0.00954547	0.150653	1	0
PHACTR3	116154	broad.mit.edu	37	20	58330263	58330263	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:58330263G>A	ENST00000371015.1	+	4	852	c.385G>A	c.(385-387)Gat>Aat	p.D129N	PHACTR3_ENST00000355648.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D88N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D126N|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D88N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D88N	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	129						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTGCAACCCCGATGGAGGACC	0.567000													9	30					0	0	0.335167	0	0
CLDN6	9074	broad.mit.edu	37	16	3065430	3065430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:3065430G>A	ENST00000396925.1	-	3	1021	c.593C>T	c.(592-594)gCc>gTc	p.A198V	CLDN6_ENST00000328796.4_Missense_Mutation_p.A198V|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	198					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAGTAGCGGGCCATGTAATG	0.652000													13	60					0	0	0.435327	0	0
LY9	4063	broad.mit.edu	37	1	160769743	160769743	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:160769743A>T	ENST00000263285.5	+	2	355	c.325A>T	c.(325-327)Atc>Ttc	p.I109F	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.I109F|LY9_ENST00000368039.2_Missense_Mutation_p.I109F|LY9_ENST00000368041.2_Missense_Mutation_p.I69F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	109	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGACTAGACATCACCAAGTG	0.453000													21	74					0	0	0.624587	0	0
C7orf33	202865	broad.mit.edu	37	7	148288032	148288032	+	Silent	SNP	T	T	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:148288032T>G	ENST00000307003.2	+	1	376	c.15T>G	c.(13-15)gtT>gtG	p.V5V		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	5										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGTGGAAGTTCAAAGCCTCA	0.537000													10	37					0	0	0.361761	0	0
FABP7	2173	broad.mit.edu	37	6	123101594	123101594	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:123101594G>T	ENST00000356535.4	+	2	268	c.232G>T	c.(232-234)Gat>Tat	p.D78Y	FABP7_ENST00000368444.3_Missense_Mutation_p.D78Y			O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	78					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	CACTGCAGATGATAGAAACTG	0.413000													3	29					0.004672	0.00501321	0.115264	1	0
SEC16A	9919	broad.mit.edu	37	9	139345823	139345823	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:139345823G>C	ENST00000313050.7	-	21	6270	c.6197C>G	c.(6196-6198)cCa>cGa	p.P2066R	SEC16A_ENST00000371706.3_Missense_Mutation_p.P1888R|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1888R|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1888R	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCCACCCTGGGGGGGCCTC	0.632000													3	23					0	0	0.115264	0	0
FSTL5	56884	broad.mit.edu	37	4	162697070	162697070	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:162697070G>T	ENST00000306100.5	-	5	1002	c.566C>A	c.(565-567)gCa>gAa	p.A189E	FSTL5_ENST00000427802.2_Missense_Mutation_p.A188E|FSTL5_ENST00000536695.1_Missense_Mutation_p.A188E|FSTL5_ENST00000379164.4_Missense_Mutation_p.A188E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	189	EF-hand 1.					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)		ATTACTGTCTGCATCAAAATA	0.294000													10	50					5.50884e-06	6.65942e-06	0.411799	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647000													3	78					0	0	0.248553	0	0
IL20RB	53833	broad.mit.edu	37	3	136714353	136714353	+	Silent	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:136714353G>T	ENST00000329582.4	+	6	1029	c.780G>T	c.(778-780)ctG>ctT	p.L260L	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	260						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGGGCCGGCTGCTCCAGTACT	0.522000													11	472					3.86212e-05	4.49796e-05	0.361761	1	0
MYH2	4620	broad.mit.edu	37	17	10432731	10432731	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:10432731T>A	ENST00000245503.5	-	25	3569	c.3185A>T	c.(3184-3186)gAg>gTg	p.E1062V	MYH2_ENST00000397183.2_Missense_Mutation_p.E1062V|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1062					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						CAAGTCACCCTCAAGTTTCCT	0.373000													8	62					0	0	0.335167	0	0
PDE11A	50940	broad.mit.edu	37	2	178936794	178936794	+	Missense_Mutation	SNP	C	C	T	rs149522660	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:178936794C>T	ENST00000286063.5	-	1	688	c.371G>A	c.(370-372)aGt>aAt	p.S124N	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	124					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCGGGCAAAACTCTTCCTTAG	0.612000									Primary Pigmented Nodular Adrenocortical Disease, Familial				17	54					0	0	0.520397	0	0
INVS	27130	broad.mit.edu	37	9	103046750	103046750	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:103046750C>T	ENST00000262457.2	+	13	2118	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	INVS_ENST00000541287.1_Missense_Mutation_p.P549S|INVS_ENST00000262456.2_Missense_Mutation_p.P645S	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	645					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAAGCAGCCTCCTGCTGGCAA	0.652000													9	40					0	0	0.335167	0	0
ZZZ3	26009	broad.mit.edu	37	1	78099026	78099026	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:78099026C>T	ENST00000370801.3	-	5	489	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACGAGTAGATCGGGAAGCAGC	0.403000													4	28					0	0	0.184627	0	0
FOXG1	2290	broad.mit.edu	37	14	29237527	29237527	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:29237527A>C	ENST00000382535.3	+	2	1411	c.1042A>C	c.(1042-1044)Aac>Cac	p.N348H	FOXG1_ENST00000313071.4_Missense_Mutation_p.N348H			P55316	FOXG1_HUMAN	forkhead box G1	348					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTGACTCAGAACTCGCTGGG	0.657000													18	117					0	0	0.575678	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602250	48602250	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:48602250G>T	ENST00000323776.5	+	13	1939	c.1777G>T	c.(1777-1779)Gcc>Tcc	p.A593S	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A556S	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	556					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAGCTGACTGCCCATGAGGC	0.582000													19	80					5.03518e-11	6.41147e-11	0.557998	1	0
CPS1	1373	broad.mit.edu	37	2	211532931	211532931	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:211532931A>T	ENST00000233072.5	+	34	4220	c.4024A>T	c.(4024-4026)Att>Ttt	p.I1342F	CPS1_ENST00000451903.2_Missense_Mutation_p.I891F|CPS1_ENST00000430249.2_Missense_Mutation_p.I1348F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1342					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGTGAAGGTATTCATACAGC	0.378000													14	56					0	0	0.500413	0	0
ATP4A	495	broad.mit.edu	37	19	36051747	36051747	+	Missense_Mutation	SNP	C	C	T	rs148572774	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:36051747C>T	ENST00000262623.3	-	5	536	c.508G>A	c.(508-510)Gcc>Acc	p.A170T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	170					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTAAAGCTGGCGATGATGTTG	0.562000													13	95					0	0	0.411799	0	0
SPOPL	339745	broad.mit.edu	37	2	139316682	139316682	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:139316682G>T	ENST00000280098.4	+	6	950	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	191						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGAAGATTTAGGTAATCTCTG	0.368000													27	100					2.48779e-11	3.18905e-11	0.693898	1	0
RELN	5649	broad.mit.edu	37	7	103207056	103207056	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:103207056G>C	ENST00000428762.1	-	32	4898	c.4739C>G	c.(4738-4740)cCg>cGg	p.P1580R	RELN_ENST00000343529.5_Missense_Mutation_p.P1580R|RELN_ENST00000424685.2_Missense_Mutation_p.P1580R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1580					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	p.P1580L(1)		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)		ACCATGTTGCGGTTGCCACCA	0.483000													14	43					0	0	0.457914	0	0
HSD17B4	3295	broad.mit.edu	37	5	118810155	118810155	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:118810155G>A	ENST00000414835.2	+	0	291				HSD17B4_ENST00000510025.1_Splice_Site_p.D70_splice|HSD17B4_ENST00000515320.1_Splice_Site_p.D76_splice|HSD17B4_ENST00000504811.1_Splice_Site_p.D119_splice|HSD17B4_ENST00000256216.6_Splice_Site_p.D94_splice			P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						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)	TGGAAGAATAGGTGATGTTTC	0.388000													12	82					0	0	0.479597	0	0
TTN	7273	broad.mit.edu	37	2	179640610	179640610	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:179640610G>A	ENST00000589042.1	-	28	6205	c.5981C>T	c.(5980-5982)tCg>tTg	p.S1994L	TTN_ENST00000360870.5_Missense_Mutation_p.S1994L|TTN_ENST00000359218.5_Missense_Mutation_p.S1948L|TTN_ENST00000342175.6_Missense_Mutation_p.S1948L|TTN_ENST00000591111.1_Missense_Mutation_p.S1994L|TTN_ENST00000460472.2_Missense_Mutation_p.S1948L|TTN_ENST00000342992.6_Missense_Mutation_p.S1994L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1747							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)			CAGCTCTTCCGACTCTTCAGG	0.438000													21	126					0	0	0.592651	0	0
FZD1	8321	broad.mit.edu	37	7	90895658	90895658	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:90895658G>T	ENST00000287934.2	+	1	1876	c.1463G>T	c.(1462-1464)cGt>cTt	p.R488L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	488					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)			GACGCGCTGCGTGGCTTCGTG	0.622000													32	165					6.00712e-18	8.08e-18	0.760397	1	0
PRSS45	377047	broad.mit.edu	37	3	46786154	46786154	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:46786154G>T	ENST00000442359.2	-	1	91	c.92C>A	c.(91-93)aCt>aAt	p.T31N	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	31	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GTGGGCCGCAGTCACCACCCA	0.602000													3	19					0.115264	0.116484	0.115264	1	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													4	132					0	0	0.184627	0	0
NXPE1	120400	broad.mit.edu	37	11	114393075	114393075	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:114393075G>C	ENST00000536271.1	-	4	1650	c.407C>G	c.(406-408)cCt>cGt	p.P136R	NXPE1_ENST00000424269.1_Missense_Mutation_p.P420R|NXPE1_ENST00000251921.2_Missense_Mutation_p.P278R					neurexophilin and PC-esterase domain family, member 1																		AATTTCCCGAGGGATATAATC	0.433000													23	92					0	0	0.667858	0	0
ABCA6	23460	broad.mit.edu	37	17	67094145	67094145	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:67094145C>T	ENST00000284425.2	-	23	3210	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1012					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)					CATCCGGCAACCCAGTCCAGA	0.368000													6	27					0	0	0.217242	0	0
CD163L1	283316	broad.mit.edu	37	12	7527960	7527960	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:7527960T>A	ENST00000313599.3	-	11	2975	c.2918A>T	c.(2917-2919)gAg>gTg	p.E973V	CD163L1_ENST00000416109.2_Missense_Mutation_p.E983V|CD163L1_ENST00000396630.1_Missense_Mutation_p.E973V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	973	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGAAGTGACTCATTCCCTAA	0.458000													10	45					0	0	0.335167	0	0
ZNF646	9726	broad.mit.edu	37	16	31087829	31087829	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:31087829A>G	ENST00000394979.2	+	1	607	c.184A>G	c.(184-186)Agc>Ggc	p.S62G	ZNF646_ENST00000300850.5_Missense_Mutation_p.S62G			O15015	ZN646_HUMAN	zinc finger protein 646	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCACCCCGGGAGCCTGGTTAA	0.602000													13	61					0	0	0.411799	0	0
APOB	338	broad.mit.edu	37	2	21255246	21255246	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:21255246C>T	ENST00000233242.1	-	10	1459	c.1332G>A	c.(1330-1332)gcG>gcA	p.A444A	APOB_ENST00000399256.4_Silent_p.A444A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	444	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A444A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGTGGCTCAGCGCATACAAGG	0.547000													4	75					0	0	0.217242	0	0
CSMD3	114788	broad.mit.edu	37	8	114449052	114449052	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:114449052G>C	ENST00000297405.5	-	1	276	c.32C>G	c.(31-33)gCa>gGa	p.A11G	CSMD3_ENST00000455883.2_Missense_Mutation_p.A11G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A11G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	11						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATTCCTTTGCTCGGCTTTC	0.517000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	79					0	0	0.592651	0	0
ZNF136	7695	broad.mit.edu	37	19	12297983	12297983	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:12297983C>T	ENST00000343979.4	+	4	930	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	ZNF136_ENST00000398616.2_Silent_p.L198L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	264					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTTTCATTCTCTGAGTTCATT	0.388000													24	47					0	0	0.654019	0	0
SPOPL	339745	broad.mit.edu	37	2	139316683	139316683	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:139316683G>T	ENST00000280098.4	+	6	951	c.572G>T	c.(571-573)gGt>gTt	p.G191V		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	191						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAAGATTTAGGTAATCTCTGG	0.368000													27	104					2.79863e-10	3.53999e-10	0.681144	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098950	178098950	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:178098950A>C	ENST00000397062.3	-	2	649	c.95T>G	c.(94-96)gTa>gGa	p.V32G	NFE2L2_ENST00000464747.1_Missense_Mutation_p.V16G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.V16G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.V16G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.V16G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	32					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V32G(2)|p.V32del(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTCTCGACTTACTCCAAGATC	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			6	34					0	0	0.217242	0	0
COL1A2	1278	broad.mit.edu	37	7	94058730	94058730	+	Silent	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:94058730A>G	ENST00000297268.6	+	51	4413	c.3942A>G	c.(3940-3942)gtA>gtG	p.V1314V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1314	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGTTCTTGTAGATGGCTGCT	0.478000										HNSCC(75;0.22)			7	59					0	0	0.248553	0	0
NEK5	341676	broad.mit.edu	37	13	52682493	52682493	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr13:52682493G>T	ENST00000355568.4	-	8	654	c.515C>A	c.(514-516)tCc>tAc	p.S172Y		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	172	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GATCTCTGGGGACAGGTAGTA	0.338000													24	53					1.5548e-18	2.10615e-18	0.693898	1	0
TOPBP1	11073	broad.mit.edu	37	3	133372361	133372361	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:133372361C>T	ENST00000260810.5	-	7	881	c.750G>A	c.(748-750)aaG>aaA	p.K250K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	250	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CACACTCATACTTCTGACCTG	0.348000								Other conserved DNA damage response genes					7	27					0	0	0.278610	0	0
FGA	2243	broad.mit.edu	37	4	155505421	155505421	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:155505421C>G	ENST00000302053.3	-	6	2534	c.2456G>C	c.(2455-2457)gGa>gCa	p.G819A		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	819	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	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)	GTAGTAGATTCCATTGAGATT	0.493000													26	85					0	0	0.681144	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852192	20852192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:20852192G>A	ENST00000382148.3	-	2	523	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	KCNIP4_ENST00000382152.2_Nonsense_Mutation_p.Q88*|KCNIP4_ENST00000382150.4_Nonsense_Mutation_p.Q67*|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Nonsense_Mutation_p.Q26*|KCNIP4_ENST00000509207.1_Nonsense_Mutation_p.Q26*|KCNIP4_ENST00000447367.2_Nonsense_Mutation_p.Q54*	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	88	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TAAAGGATCTGAAGCTCTTTC	0.458000													16	79					0	0	0.520397	0	0
ZIC4	84107	broad.mit.edu	37	3	147113980	147113980	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:147113980A>T	ENST00000383075.3	-	3	859	c.347T>A	c.(346-348)tTc>tAc	p.F116Y	ZIC4_ENST00000525172.2_Missense_Mutation_p.F166Y|ZIC4_ENST00000425731.3_Missense_Mutation_p.F154Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.F116Y|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.F116Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	116						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTAGCGGAAGAAAGCGCCAGG	0.677000													8	72					0	0	0.307466	0	0
CELSR2	1952	broad.mit.edu	37	1	109812137	109812137	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:109812137G>T	ENST00000271332.3	+	21	6965	c.6904G>T	c.(6904-6906)Gtc>Ttc	p.V2302F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2302					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGACAAACCCGTCACGGTGCA	0.607000													8	32					0.000157383	0.00017893	0.278610	1	0
EPHA6	285220	broad.mit.edu	37	3	96533606	96533606	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:96533606G>T	ENST00000389672.5	+	1	177	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	EPHA6_ENST00000470610.2_Missense_Mutation_p.G47W	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						GGGGCGCCCCGGGACACCCCC	0.711000													5	26					1.23904e-05	1.4791e-05	0.184627	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151152187	151152187	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:151152187G>C	ENST00000367328.1	+	16	2252	c.1940G>C	c.(1939-1941)gGg>gCg	p.G647A	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G647A	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	647					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACTCCCTTTGGGTCATCCATA	0.448000													7	34					0	0	0.248553	0	0
SYNE1	23345	broad.mit.edu	37	6	152501328	152501328	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:152501328G>T	ENST00000367255.5	-	129	24004	c.23403C>A	c.(23401-23403)agC>agA	p.S7801R	SYNE1_ENST00000341594.5_Missense_Mutation_p.S7413R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7730R|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2325R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7730R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7801R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7801					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)		GAGAAACTTTGCTTTCCATTT	0.403000										HNSCC(10;0.0054)			18	75					1.99824e-07	2.46234e-07	0.520397	1	0
EPB41L2	2037	broad.mit.edu	37	6	131191188	131191188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:131191188C>T	ENST00000337057.3	-	15	2303	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E708K|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E86K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000528282.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	708					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)		CCATTCATTTCTTCTGTGATT	0.458000													5	64					0	0	0.248553	0	0
MACROD2	140733	broad.mit.edu	37	20	15210612	15210612	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:15210612G>T	ENST00000217246.4	+	6	840	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	MACROD2_ENST00000310348.4_Missense_Mutation_p.A149S|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	149	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGGCCAATAGCCAGGGGCCA	0.358000													5	31					2.7689e-08	3.4566e-08	0.248553	1	0
LATS2	26524	broad.mit.edu	37	13	21562740	21562740	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr13:21562740G>A	ENST00000382592.4	-	4	1584	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	LATS2_ENST00000542899.1_Silent_p.H393H	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	393					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGAAGGCCACGTGCGCGCGCG	0.736000													3	7					0	0	0.217242	0	0
FERMT2	10979	broad.mit.edu	37	14	53345312	53345312	+	Silent	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:53345312A>G	ENST00000395631.2	-	7	1167	c.951T>C	c.(949-951)ttT>ttC	p.F317F	FERMT2_ENST00000399304.3_Silent_p.F317F|FERMT2_ENST00000553373.1_Silent_p.F317F|FERMT2_ENST00000343279.4_Silent_p.F317F|FERMT2_ENST00000341590.3_Silent_p.F317F			Q96AC1	FERM2_HUMAN	fermitin family member 2	317	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GCAGGGCTGCAAACATCATCA	0.413000													26	80					0	0	0.717897	0	0
RFTN1	23180	broad.mit.edu	37	3	16475413	16475413	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:16475413C>T	ENST00000334133.4	-	3	549	c.277G>A	c.(277-279)Gag>Aag	p.E93K	RFTN1_ENST00000432519.1_Missense_Mutation_p.E57K	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	93						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGCGTCTTCTCCCGCTCATGG	0.632000													23	86					0	0	0.654019	0	0
SPG11	80208	broad.mit.edu	37	15	44900683	44900683	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:44900683T>C	ENST00000261866.7	-	19	3428	c.3412A>G	c.(3412-3414)Agt>Ggt	p.S1138G	SPG11_ENST00000558319.1_Missense_Mutation_p.S1138G|SPG11_ENST00000427534.2_Missense_Mutation_p.S1138G|SPG11_ENST00000535302.2_Missense_Mutation_p.S1138G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1138					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGCAGGACACTAGGAGGAGTG	0.423000													12	54					0	0	0.457914	0	0
TEKT5	146279	broad.mit.edu	37	16	10788235	10788235	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr16:10788235T>C	ENST00000283025.2	-	1	567	c.496A>G	c.(496-498)Aac>Gac	p.N166D		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	166					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGTTCTGGTTCTCAGTCAGA	0.607000													49	249					0	0	0.870114	0	0
ZIC4	84107	broad.mit.edu	37	3	147109007	147109007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:147109007C>T	ENST00000383075.3	-	4	1227	c.715G>A	c.(715-717)Gag>Aag	p.E239K	ZIC4_ENST00000525172.2_Missense_Mutation_p.E289K|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.E277K|ZIC4_ENST00000484399.1_Missense_Mutation_p.E239K|ZIC4_ENST00000491672.1_Missense_Mutation_p.E33K|ZIC4_ENST00000473123.1_Missense_Mutation_p.E239K	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	239						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCGCAGCCCTCGAACTCGCAT	0.617000													6	38					0	0	0.217242	0	0
PRDM5	11107	broad.mit.edu	37	4	121742406	121742406	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:121742406T>A	ENST00000264808.3	-	4	635	c.395A>T	c.(394-396)gAg>gTg	p.E132V	PRDM5_ENST00000428209.2_Missense_Mutation_p.E132V|PRDM5_ENST00000515109.1_Missense_Mutation_p.E132V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	132					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGTTCTTCCTCCTCAGCCTC	0.403000													28	94					0	0	0.717897	0	0
C2CD2	25966	broad.mit.edu	37	21	43332500	43332500	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:43332500C>A	ENST00000380486.3	-	7	1135	c.894G>T	c.(892-894)agG>agT	p.R298S	C2CD2_ENST00000329623.7_Missense_Mutation_p.R143S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	298	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGCTGGAGAACCTCTGAACAG	0.488000													4	18					0.00909568	0.00954547	0.150653	1	0
ZNF254	9534	broad.mit.edu	37	19	24309534	24309534	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:24309534C>A	ENST00000357002.4	+	4	847	c.732C>A	c.(730-732)aaC>aaA	p.N244K	ZNF254_ENST00000342944.6_Missense_Mutation_p.N159K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	244					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAGAATATAACAAATCTCCTA	0.328000													6	34					0.0215528	0.0221321	0.217242	1	0
ABHD11	83451	broad.mit.edu	37	7	73151996	73151996	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:73151996T>A	ENST00000222800.3	-	3	427	c.358A>T	c.(358-360)Agc>Tgc	p.S120C	ABHD11_ENST00000458339.1_Missense_Mutation_p.S120C|ABHD11_ENST00000395147.4_Missense_Mutation_p.S120C|ABHD11_ENST00000437775.2_Missense_Mutation_p.S113C	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	120							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGGTCCTGGCTCATGATCTCG	0.637000													4	31					0	0	0.150653	0	0
ANO2	57101	broad.mit.edu	37	12	5908715	5908715	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:5908715C>T	ENST00000546188.1	-	10	1075	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	ANO2_ENST00000356134.5_Missense_Mutation_p.R335H|ANO2_ENST00000327087.8_Missense_Mutation_p.R334H			Q9NQ90	ANO2_HUMAN	anoctamin 2	339						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.R335H(1)		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						CACTCCATAGCGCGCCCATTC	0.418000													4	32					0	0	0.184627	0	0
EYA4	2070	broad.mit.edu	37	6	133783834	133783834	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:133783834G>T	ENST00000367895.5	+	9	1120	c.656G>T	c.(655-657)tGc>tTc	p.C219F	EYA4_ENST00000430974.2_Missense_Mutation_p.C165F|EYA4_ENST00000531901.1_Missense_Mutation_p.C219F|EYA4_ENST00000355286.6_Missense_Mutation_p.C196F|EYA4_ENST00000525849.1_Missense_Mutation_p.C196F|EYA4_ENST00000355167.3_Missense_Mutation_p.C219F|EYA4_ENST00000452339.2_Missense_Mutation_p.C165F|EYA4_ENST00000431403.2_Missense_Mutation_p.C219F	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	219					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGAGTGGCTGCCTCAGTTAC	0.468000													13	46					6.49762e-13	8.50031e-13	0.539581	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576173	33576173	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr5:33576173C>T	ENST00000504830.1	-	19	4293	c.3958G>A	c.(3958-3960)Gga>Aga	p.G1320R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1235R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1320	TSP type-1 5.				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						CTCCAGTTTCCGACGATCCAG	0.448000										HNSCC(64;0.19)			18	60					0	0	0.520397	0	0
CCDC132	55610	broad.mit.edu	37	7	92905556	92905556	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:92905556A>T	ENST00000544910.1	+	13	1011	c.791A>T	c.(790-792)gAa>gTa	p.E264V	CCDC132_ENST00000317751.6_Missense_Mutation_p.E25V|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.E294V|CCDC132_ENST00000305866.5_Missense_Mutation_p.E294V|CCDC132_ENST00000541136.1_Missense_Mutation_p.E105V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	294										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTATGTGGAACTATGTGCA	0.378000													29	90					0	0	0.706142	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221839	118221839	+	Silent	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chrX:118221839C>A	ENST00000402510.2	-	11	3353	c.3354G>T	c.(3352-3354)ctG>ctT	p.L1118L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1118										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTCTGGGAAGCAGCTGCTCCT	0.488000													6	77					0.00116845	0.00129002	0.217242	1	0
CHRNB1	1140	broad.mit.edu	37	17	7350422	7350422	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:7350422C>T	ENST00000306071.2	+	5	481	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CHRNB1_ENST00000536404.2_Silent_p.S66S|CHRNB1_ENST00000576360.1_Silent_p.S66S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	138					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CCGACGGCTCCGTGCGTTGGC	0.582000													9	37					0	0	0.361761	0	0
TPTE	7179	broad.mit.edu	37	21	10944746	10944746	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:10944746G>T	ENST00000298232.7	-	10	801	c.434C>A	c.(433-435)aCt>aAt	p.T145N	TPTE_ENST00000342420.5_Missense_Mutation_p.T125N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.T163N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	163					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)		AATAATGGCAGTATCTAAAAT	0.318000													10	189					2.17888e-05	2.56892e-05	0.335167	1	0
PKHD1	5314	broad.mit.edu	37	6	51923195	51923195	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:51923195G>T	ENST00000371117.3	-	16	1713	c.1438C>A	c.(1438-1440)Cct>Act	p.P480T	PKHD1_ENST00000340994.4_Missense_Mutation_p.P480T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	480					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCACATCAGGATTCAGCCAG	0.552000													29	94					3.65163e-15	4.84348e-15	0.706142	1	0
RACGAP1	29127	broad.mit.edu	37	12	50386143	50386143	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:50386143T>G	ENST00000434422.1	-	15	1764	c.1463A>C	c.(1462-1464)cAt>cCt	p.H488P	RACGAP1_ENST00000547905.1_Missense_Mutation_p.H488P|RACGAP1_ENST00000551016.1_Missense_Mutation_p.H488P|RACGAP1_ENST00000427314.2_Missense_Mutation_p.H488P|RACGAP1_ENST00000454520.2_Missense_Mutation_p.H488P|RACGAP1_ENST00000312377.5_Missense_Mutation_p.H488P			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	488	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CATTTTAGTATGTGGACTCTG	0.393000													8	46					0	0	0.307466	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225151	26225151	+	Silent	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:26225151T>C	ENST00000056233.3	+	4	2092	c.1833T>C	c.(1831-1833)tgT>tgC	p.C611C		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	611	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ATGATGTATGTAACTTGCAAG	0.353000													9	58					0	0	0.335167	0	0
PPP1R10	5514	broad.mit.edu	37	6	30574254	30574254	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:30574254G>A	ENST00000376511.2	-	8	1177	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	209	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCAGTGGAACGGAACTTGGCA	0.567000													12	78					0	0	0.457914	0	0
TP53	7157	broad.mit.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:7574034C>A	ENST00000420246.2	-	11	1259		c.e11-1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCACGGATCTGCAGCAACA	0.512000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	15					0.000602214	0.000668738	0.184627	1	0
STOX2	56977	broad.mit.edu	37	4	184938290	184938290	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:184938290C>T	ENST00000308497.4	+	4	4069	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	878					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TTGAAAGTAACCGTCGTCAGA	0.498000													4	14					0	0	0.184627	0	0
RNF213	57674	broad.mit.edu	37	17	78318661	78318661	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:78318661C>A	ENST00000582970.1	+	29	6669	c.6526C>A	c.(6526-6528)Caa>Aaa	p.Q2176K	RNF213_ENST00000508628.2_Missense_Mutation_p.Q2225K|RNF213_ENST00000336301.6_Missense_Mutation_p.Q249K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1113										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGATTCAATCAAAACCAAGA	0.493000													16	53					6.94344e-10	8.72498e-10	0.539581	1	0
MUC5B	727897	broad.mit.edu	37	11	1263968	1263968	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:1263968C>T	ENST00000447027.1	+	31	5925	c.5867C>T	c.(5866-5868)gCc>gTc	p.A1956V	MUC5B_ENST00000529681.1_Missense_Mutation_p.A1953V|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1953	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			S -> F (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTCCAAAGCCACTCCCTCC	0.632000													25	94					0	0	0.654019	0	0
PHF3	23469	broad.mit.edu	37	6	64416739	64416739	+	Silent	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:64416739A>G	ENST00000262043.3	+	13	4024	c.3684A>G	c.(3682-3684)gtA>gtG	p.V1228V	PHF3_ENST00000393387.1_Silent_p.V1228V			Q92576	PHF3_HUMAN	PHD finger protein 3	1228					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTATCCAGTATCTGGCTCCC	0.398000													29	102					0	0	0.750413	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_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	57					0	0	0.150653	0	0
TLN1	7094	broad.mit.edu	37	9	35707795	35707795	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:35707795T>A	ENST00000314888.9	-	35	4918	c.4565A>T	c.(4564-4566)aAg>aTg	p.K1522M	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.K1522M	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1522	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAACTGGCGCTTGGCAGTAGG	0.547000													73	132					0	0	0.870114	0	0
LILRA1	11024	broad.mit.edu	37	19	55106221	55106221	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:55106221G>A	ENST00000453777.1	+	4	332	c.162G>A	c.(160-162)gaG>gaA	p.E54E	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Silent_p.E54E	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	54	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGATCCTGGAGACCCAGGAGT	0.582000													15	85					0	0	0.479597	0	0
ZNF91	7644	broad.mit.edu	37	19	23544891	23544891	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:23544891T>A	ENST00000300619.7	-	4	1095	c.890A>T	c.(889-891)gAa>gTa	p.E297V	ZNF91_ENST00000397082.2_Missense_Mutation_p.E265V|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	297						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCCACATTCTTCACATTTGTA	0.393000													18	86					0	0	0.557998	0	0
OR5M11	219487	broad.mit.edu	37	11	56309937	56309937	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:56309937G>T	ENST00000528616.2	-	1	820	c.797C>A	c.(796-798)aCt>aAt	p.T266N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTCCTCAACAGTCTTATCTGT	0.423000													7	54					0.0293803	0.0298492	0.248553	1	0
RPAP1	26015	broad.mit.edu	37	15	41819777	41819777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:41819777C>T	ENST00000304330.4	-	12	1571	c.1455G>A	c.(1453-1455)tgG>tgA	p.W485*	RPAP1_ENST00000561603.1_Nonsense_Mutation_p.W485*	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	485						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCCATGGTACCAAGAGAAGG	0.552000													3	19					0	0	0.115264	0	0
C8orf37	157657	broad.mit.edu	37	8	96259940	96259940	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:96259940G>A	ENST00000286688.5	-	6	540	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	177										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					GCATATGCCCGTGTTCCTTTC	0.393000													7	45					0	0	0.248553	0	0
CREB3L2	64764	broad.mit.edu	37	7	137567275	137567275	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:137567275G>A	ENST00000330387.6	-	11	1721	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	457					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAGCAGGGAGGAACCTCTATC	0.582000			T	FUS	fibromyxoid sarcoma								6	42					0	0	0.217242	0	0
GAD1	2571	broad.mit.edu	37	2	171686090	171686090	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:171686090G>T	ENST00000358196.3	+	4	801	c.251G>T	c.(250-252)cGg>cTg	p.R84L	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.R84L|GAD1_ENST00000344257.5_Missense_Mutation_p.R84L	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	84					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AACAGCGACCGGGATGCCCGC	0.547000													4	89					0.000602214	0.000668738	0.184627	1	0
WNK4	65266	broad.mit.edu	37	17	40940808	40940808	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:40940808C>A	ENST00000246914.5	+	11	2171	c.2150C>A	c.(2149-2151)gCt>gAt	p.A717D		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	717					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGATTGCAGCTGCCATGGTG	0.537000													11	51					0.000151284	0.000173026	0.435327	1	0
NCOA2	10499	broad.mit.edu	37	8	71036232	71036232	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:71036232T>A	ENST00000452400.2	-	21	4361	c.4180A>T	c.(4180-4182)Atg>Ttg	p.M1394L	NCOA2_ENST00000267974.4_Missense_Mutation_p.M482L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1394					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGGTCGCCATGGACACATTG	0.517000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	30					0	0	0.217242	0	0
SPOPL	339745	broad.mit.edu	37	2	139316621	139316621	+	Silent	SNP	A	A	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:139316621A>C	ENST00000280098.4	+	6	889	c.510A>C	c.(508-510)atA>atC	p.I170I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	170						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CAGTAAACATATCAGGACATA	0.353000													14	77					0	0	0.479597	0	0
ZNF219	51222	broad.mit.edu	37	14	21561411	21561411	+	Silent	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr14:21561411C>A	ENST00000360947.3	-	3	456	c.45G>T	c.(43-45)ccG>ccT	p.P15P	ZNF219_ENST00000451119.2_Silent_p.P15P|ZNF219_ENST00000421093.2_Silent_p.P15P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	15					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CCGGCGGCGACGGCGCTAAGT	0.657000											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	16					0.0293803	0.0298492	0.248553	1	0
KIAA1549	57670	broad.mit.edu	37	7	138604033	138604033	+	Silent	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:138604033C>T	ENST00000440172.1	-	2	387	c.339G>A	c.(337-339)ccG>ccA	p.P113P	KIAA1549_ENST00000422774.1_Silent_p.P113P|KIAA1549_ENST00000242365.4_Silent_p.P63P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	113						integral to membrane		p.P113P(1)|p.P63P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAGTGGCAGACGGCGGGGCTG	0.517000			O	BRAF	pilocytic astrocytoma								11	95					0	0	0.387290	0	0
RPLP0	6175	broad.mit.edu	37	12	120634606	120634606	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:120634606G>A	ENST00000551150.1	-	7	1239	c.924C>T	c.(922-924)gaC>gaT	p.D308D	RPLP0_ENST00000552292.1_Silent_p.D98D|RPLP0_ENST00000228306.4_Silent_p.D308D|RPLP0_ENST00000546989.1_Silent_p.D272D|RPLP0_ENST00000392514.4_Silent_p.D308D|RPLP0_ENST00000313104.5_Silent_p.D246D			P05388	RLA0_HUMAN	ribosomal protein, large, P0	308					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATATCCTCGTCCGACTCCT	0.488000													10	50					0	0	0.335167	0	0
C20orf26	26074	broad.mit.edu	37	20	20150070	20150070	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr20:20150070G>A	ENST00000245957.5	+	13	1427	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	C20orf26_ENST00000377306.1_Missense_Mutation_p.D451N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D451N|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	451										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTCGAGCAGGACCTCTACGT	0.493000													14	71					0	0	0.479597	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008629	73008629	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:73008629G>A	ENST00000313375.3	-	16	2462	c.2415C>T	c.(2413-2415)taC>taT	p.Y805Y	MLXIPL_ENST00000429400.2_Silent_p.Y786Y|MLXIPL_ENST00000414749.2_Silent_p.Y803Y|MLXIPL_ENST00000434326.1_Silent_p.Y711Y|MLXIPL_ENST00000395189.1_Silent_p.Y712Y|MLXIPL_ENST00000354613.1_Silent_p.Y784Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	805					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGAGAGCAGTACTGGTCCA	0.627000													14	56					0	0	0.435327	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463264	25463264	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:25463264G>A	ENST00000264709.3	-	19	2566	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	DNMT3A_ENST00000402667.1_Silent_p.P520P|DNMT3A_ENST00000380746.4_Silent_p.P554P|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.P743P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	743					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCCTCCTTGGGCCGCGCAT	0.567000			"""Mis, F, N, S"""		AML								22	85					0	0	0.624587	0	0
APAF1	317	broad.mit.edu	37	12	99065373	99065373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:99065373C>T	ENST00000357310.1	+	12	2246	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	APAF1_ENST00000547045.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Nonsense_Mutation_p.R546*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.R557*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.R546*	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	557					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CCTTCTTGGACGACAGCCATT	0.413000													10	110					0	0	0.387290	0	0
BCL3	602	broad.mit.edu	37	19	45262845	45262845	+	Silent	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:45262845C>A	ENST00000164227.5	+	9	1582	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	446	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GGCCGGTGCCCCCCTCCCCAG	0.667000			T	IGH@	CLL								19	60					2.94398e-08	3.6513e-08	0.557998	1	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343000													8	102					0	0	0.278610	0	0
IRGC	56269	broad.mit.edu	37	19	44222644	44222644	+	Splice_Site	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:44222644G>A	ENST00000244314.5	+	2	133		c.e2-1			NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema							membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTCCTCTGCAGGCGCTGAGGA	0.627000													20	64					0	0	0.592651	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350798	79350798	+	Missense_Mutation	SNP	C	C	T	rs150686548		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:79350798C>T	ENST00000419573.3	-	3	683	c.409G>A	c.(409-411)Gag>Aag	p.E137K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E137K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	137					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTAATGCCTCATGCTCTGTG	0.572000													5	45					0	0	0.278610	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459975	107459975	+	Silent	SNP	G	G	A	rs142520495		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr2:107459975G>A	ENST00000409382.3	-	2	1069	c.459C>T	c.(457-459)ccC>ccT	p.P153P	ST6GAL2_ENST00000361686.4_Silent_p.P153P|ST6GAL2_ENST00000409087.3_Silent_p.P153P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	153					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P153P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTGGCTCCCCGGGGGAAGGGA	0.622000													16	252					0	0	0.500413	0	0
TF	7018	broad.mit.edu	37	3	133495987	133495987	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:133495987G>A	ENST00000402696.3	+	16	2452	c.1967G>A	c.(1966-1968)tGt>tAt	p.C656Y	TF_ENST00000264998.3_Missense_Mutation_p.C529Y	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	656	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GACACAGTATGTTTGGCCAAA	0.433000													5	75					0	0	0.217242	0	0
ACOX1	51	broad.mit.edu	37	17	73956445	73956445	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:73956445C>T	ENST00000537812.1	-	3	815	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000301608.4_Intron|ACOX1_ENST00000293217.5_Missense_Mutation_p.R94Q	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	94					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						AGGCCGCCCTCGGTGCACAAA	0.532000													5	20					0	0	0.217242	0	0
TRIM14	9830	broad.mit.edu	37	9	100862405	100862405	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:100862405G>A	ENST00000341469.2	-	3	354	c.345C>T	c.(343-345)ttC>ttT	p.F115F	TRIM14_ENST00000375098.3_Silent_p.F115F|TRIM14_ENST00000342043.3_Silent_p.F115F	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	115						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				TGAGTTCAGTGAATTTCCCCT	0.438000													14	71					0	0	0.435327	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724315	50724315	+	Silent	SNP	G	G	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr10:50724315G>A	ENST00000515869.1	-	6	2370	c.2250C>T	c.(2248-2250)tgC>tgT	p.C750C	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Silent_p.C282C|PGBD3_ENST00000603152.1_Silent_p.C750C|ERCC6-PGBD3_ENST00000447839.2_Silent_p.C750C|PGBD3_ENST00000508005.2_Silent_p.C282C	NM_001277059.1	NP_001263988.1																					TAAATTGTTTGCACCCGTGAC	0.413000													7	30					0	0	0.278610	0	0
COL6A6	131873	broad.mit.edu	37	3	130283942	130283942	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:130283942G>T	ENST00000358511.6	+	3	797	c.766G>T	c.(766-768)Gta>Tta	p.V256L	COL6A6_ENST00000453409.2_Missense_Mutation_p.V256L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	256	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAAGAAAGTGTATCTGCCCT	0.408000													32	181					1.08312e-15	1.44668e-15	0.740014	1	0
VPS52	6293	broad.mit.edu	37	6	33236966	33236966	+	Splice_Site	SNP	G	G	A	rs148755872	byFrequency	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:33236966G>A	ENST00000445902.2	-	6	591	c.372_splice	c.e6-1	p.R125_splice	VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	125					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGCTCCATTCGCTGTAGGGAG	0.498000													7	99					0	0	0.248553	0	0
SPATC1	375686	broad.mit.edu	37	8	145095233	145095233	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:145095233A>T	ENST00000377470.3	+	2	737	c.635A>T	c.(634-636)aAc>aTc	p.N212I	SPATC1_ENST00000447830.2_Missense_Mutation_p.N212I	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	212										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCTCTCAGAACCTGCTGGCC	0.687000													5	56					0	0	0.184627	0	0
GPR149	344758	broad.mit.edu	37	3	154138953	154138953	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:154138953T>C	ENST00000389740.2	-	3	1597	c.1498A>G	c.(1498-1500)Att>Gtt	p.I500V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	500						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)			TCATAGTTAATATCACCTCCT	0.398000													35	201					0	0	0.812448	0	0
PAX4	5078	broad.mit.edu	37	7	127251714	127251714	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr7:127251714A>G	ENST00000341640.2	-	8	969	c.764T>C	c.(763-765)gTg>gCg	p.V255A	PAX4_ENST00000378740.2_Missense_Mutation_p.V255A|PAX4_ENST00000338516.3_Silent_p.C244C|PAX4_ENST00000463946.1_Missense_Mutation_p.V253A	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	263					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGCTGTGGGCACACTGCCAGG	0.582000													15	71					0	0	0.479597	0	0
CHIC2	26511	broad.mit.edu	37	4	54915177	54915177	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr4:54915177C>A	ENST00000263921.3	-	3	664	c.275G>T	c.(274-276)tGt>tTt	p.C92F	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Missense_Mutation_p.C92F	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	92						plasma membrane	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCAGCAGCAACAAAGGCAGCC	0.373000			T	ETV6	AML								5	11					0.000602214	0.000668738	0.184627	1	0
OLFM3	118427	broad.mit.edu	37	1	102270200	102270200	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:102270200A>G	ENST00000370103.4	-	6	1184	c.971T>C	c.(970-972)tTc>tCc	p.F324S	OLFM3_ENST00000338858.5_Missense_Mutation_p.F344S|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	344	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGTCAGAGAATCCACCCCA	0.453000													13	37					0	0	0.411799	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													3	4	---	---	---	---					
CNTN6	27255	broad.mit.edu	37	3	1363354	1363355	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr3:1363354_1363355insGA	ENST00000446702.2	+	8	1409_1410	c.782_783insGA	c.(781-783)tagfs	p.*261fs	CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.*189fs|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.*261fs			Q9UQ52	CNTN6_HUMAN	contactin 6	261	Ig-like C2-type 3.				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)		GATATTAGTTGGAGAAGGTTGG	0.416													20	124	---	---	---	---					
LPA	4018	broad.mit.edu	37	6	161027646	161027647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr6:161027646_161027647insC	ENST00000447678.1	-	18	2767_2768	c.2647_2648insG	c.(2647-2649)cccfs	p.P883fs	LPA_ENST00000316300.5_Frame_Shift_Ins_p.P883fs	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3391	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)	ACAATAAGGGGCTGCCACAGGA	0.525													9	168	---	---	---	---					
ZNF7	7553	broad.mit.edu	37	8	146054833	146054834	+	In_Frame_Ins	INS	-	-	TCC			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr8:146054833_146054834insTCC	ENST00000446747.2	+	3	103_104	c.7_8insTCC	c.(7-9)cct>TCCcct	p.2_3insS	ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000544249.1_Intron|ZNF7_ENST00000528372.1_Intron|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000528130.1_Intron|ZNF7_ENST00000325217.5_In_Frame_Ins_p.2_3insS			P17097	ZNF7_HUMAN	zinc finger protein 7	0					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CACCCAGGGATTCCTGGGGTGC	0.624													45	258	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974764	21974775	+	In_Frame_Del	DEL	GGCCGCGGCCGT	GGCCGCGGCCGT	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:21974764_21974775delGGCCGCGGCCGT	ENST00000304494.5	-	1	322_333	c.52_63delACGGCCGCGGCC	c.(52-63)del	p.TAAA18del	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.TAAA18del|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.TAAA18del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.TAAA18del|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	18					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A21D(2)|p.A20A(2)|p.T18P(2)|p.A20T(2)|p.S12fs*6(1)|p.A20E(1)|p.0(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.A20fs*26(1)|p.R22fs*14(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.T18M(1)|p.A20_A21del(1)|p.A20S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCGACCCCGGGCCGCGGCCGTGGCCAGCCAG	0.745		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	48	---	---	---	---					
RUSC2	9853	broad.mit.edu	37	9	35555308	35555309	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr9:35555308_35555309insG	ENST00000455600.1	+	3	2835_2836	c.2266_2267insG	c.(2266-2268)agcfs	p.S756fs		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	756						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ATCCACTCCCCGAGCCACTGGC	0.663													9	65	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													25	7	---	---	---	---					
ALDH1L2	160428	broad.mit.edu	37	12	105434423	105434423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr12:105434423delC	ENST00000258494.9	-	16	2053	c.1913delG	c.(1912-1914)gcfs	p.G638fs	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	638	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						CTTTGGAAAGCCTGCTTTCAC	0.483													36	420	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGGTGAGACCGAAGAAGACTTGC	0.581													3	4	---	---	---	---					
WDR72	256764	broad.mit.edu	37	15	53889325	53889325	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr15:53889325delC	ENST00000396328.1	-	18	3338	c.3099delG	c.(3097-3099)tgfs	p.W1033fs	WDR72_ENST00000557913.1_Frame_Shift_Del_p.W1030fs|WDR72_ENST00000360509.5_Frame_Shift_Del_p.W1033fs|WDR72_ENST00000559418.1_Frame_Shift_Del_p.W1043fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1033										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTCTTCTGTCCATTCCAGCT	0.393													40	231	---	---	---	---					
SLC38A10	124565	broad.mit.edu	37	17	79220027	79220028	+	Frame_Shift_Ins	INS	-	-	C	rs35020977		TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr17:79220027_79220028insC	ENST00000374759.3	-	16	3071_3072	c.2688_2689insG	c.(2686-2691)ggaggafs	p.G897fs		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	897					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCACCTCCTTCCCAGGTTTTT	0.634													8	168	---	---	---	---					
NPHS1	4868	broad.mit.edu	37	19	36330419	36330420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:36330419_36330420insG	ENST00000378910.5	-	21	2904_2905	c.2905_2906insC	c.(2905-2907)gccfs	p.A969fs	NPHS1_ENST00000353632.6_Frame_Shift_Ins_p.A969fs	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	969	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCTGTGGCAGGCCCCCATCA	0.594													15	116	---	---	---	---					
ZNF132	7691	broad.mit.edu	37	19	58945525	58945526	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr19:58945525_58945526insT	ENST00000254166.3	-	3	1685_1686	c.1285_1286insA	c.(1285-1287)accfs	p.T429fs		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	429						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCATACGGTCTTTCTCCAGTG	0.465													9	95	---	---	---	---					
HMGXB4	10042	broad.mit.edu	37	22	35689036	35689037	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CN-6019-01A-11D-1683-08	TCGA-CN-6019-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00769a89-ffc5-46f5-a42e-25b3eae886c2	424fb678-3744-4165-b4b3-daffa0319990	g.chr22:35689036_35689037delTG	ENST00000216106.5	+	10	1818_1819	c.1690_1691delTG	c.(1690-1692)tfs	p.C564fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.C455fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	564					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATTATCTGTGCCCTTGGC	0.490													12	76	---	---	---	---					
