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
SPAG17	200162	broad.mit.edu	37	1	118629569	118629569	+	Silent	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:118629569G>A	ENST00000336338.5	-	11	1487	c.1422C>T	c.(1420-1422)gaC>gaT	p.D474D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	474						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGTCTAGCCCGTCTGCTCTGG	0.517000													28	59					0	0	0.006320	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388776	119388776	+	Silent	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:119388776A>G	ENST00000326624.2	+	2	1734	c.1506A>G	c.(1504-1506)tcA>tcG	p.S502S	ZBTB33_ENST00000557385.1_Silent_p.S502S	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	502	Interaction with CTNND1 (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCAAAAGGTCATATGTCTGTC	0.383000													12	115					0	0	0.013537	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657851	144657851	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:144657851C>T	ENST00000449291.2	-	9	1423	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S	NAPRT1_ENST00000435154.3_Missense_Mutation_p.G377S|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.G377S|NAPRT1_ENST00000276844.7_Missense_Mutation_p.G377S|NAPRT1_ENST00000460623.1_5'UTR			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	377					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGCCAATGCCAATGACATTC	0.667000													5	7					0	0	0.014758	0	0
C18orf54	162681	broad.mit.edu	37	18	51892104	51892104	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:51892104C>T	ENST00000300091.5	+	5	1088	c.756C>T	c.(754-756)ccC>ccT	p.P252P	C18orf54_ENST00000578138.1_Silent_p.P31P|C18orf54_ENST00000382911.4_Silent_p.P413P|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	252						extracellular region		p.P252P(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CTCCTGTTCCCGTTAACTCTG	0.333000													39	120					0	0	0.011902	0	0
SENP7	57337	broad.mit.edu	37	3	101066766	101066766	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:101066766T>C	ENST00000394095.2	-	13	1840	c.1787A>G	c.(1786-1788)tAt>tGt	p.Y596C	SENP7_ENST00000394091.1_Missense_Mutation_p.Y432C|SENP7_ENST00000314261.7_Missense_Mutation_p.Y530C|SENP7_ENST00000358203.3_Missense_Mutation_p.Y432C|SENP7_ENST00000348610.3_Missense_Mutation_p.Y563C|SENP7_ENST00000394094.2_Missense_Mutation_p.Y531C	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	596					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTCTTGAAGATAATCTGAAGA	0.338000													19	71					0	0	0.012319	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	45					0	0	0.021553	0	0
MAP1B	4131	broad.mit.edu	37	5	71492289	71492289	+	Missense_Mutation	SNP	C	C	T	rs145156470	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:71492289C>T	ENST00000296755.7	+	5	3405	c.3107C>T	c.(3106-3108)cCg>cTg	p.P1036L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1036						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAATATGAGCCGGAAAAAATG	0.522000													21	49					0	0	0.012319	0	0
ATRN	8455	broad.mit.edu	37	20	3543984	3543984	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr20:3543984C>T	ENST00000262919.5	+	10	1828	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	ATRN_ENST00000446916.2_Missense_Mutation_p.S587F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	587					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAATGCTTCTCTTCAGATTTC	0.428000													9	163					0	0	0.006214	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88203249	88203249	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:88203249A>C	ENST00000357081.3	-	21	3011	c.2867T>G	c.(2866-2868)gTc>gGc	p.V956G	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.V916G|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.V968G|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	956					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TAACATAGGGACAATTTTAAA	0.348000													13	30					0	0	0.016723	0	0
CACHD1	57685	broad.mit.edu	37	1	65047921	65047921	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:65047921C>T	ENST00000371073.2	+	3	344	c.344C>T	c.(343-345)aCg>aTg	p.T115M	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.T64M			Q5VU97	CAHD1_HUMAN	cache domain containing 1	115					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCATCCTATACGGCTCACCTA	0.428000													29	70					0	0	0.010818	0	0
ZNF335	63925	broad.mit.edu	37	20	44581029	44581029	+	Silent	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr20:44581029G>A	ENST00000322927.2	-	20	3046	c.2946C>T	c.(2944-2946)tgC>tgT	p.C982C	ZNF335_ENST00000426788.1_Silent_p.C827C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	982					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGTCCCCTACGCAGTGGGTCT	0.662000													20	39					0	0	0.010504	0	0
TMEM72	643236	broad.mit.edu	37	10	45430313	45430313	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:45430313A>G	ENST00000544540.1	+	4	689	c.205A>G	c.(205-207)Aag>Gag	p.K69E	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	187						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CATCCACATGAAGAGTATCCT	0.602000													46	156					0	0	0.014410	0	0
FGF13	2258	broad.mit.edu	37	X	137791006	137791006	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:137791006C>T	ENST00000315930.6	-	2	933	c.272G>A	c.(271-273)gGc>gAc	p.G91D	FGF13_ENST00000370603.3_Missense_Mutation_p.G101D|FGF13_ENST00000305414.4_Missense_Mutation_p.G38D|FGF13_ENST00000541469.1_Missense_Mutation_p.G45D|FGF13_ENST00000441825.2_Missense_Mutation_p.G72D	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	91					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTGGTGCCATCAATGGT	0.393000													38	167					0	0	0.007835	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	50					0	0	0.004672	0	0
HSP90B1	7184	broad.mit.edu	37	12	104340443	104340443	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:104340443C>T	ENST00000299767.5	+	15	2257	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	692					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCCAGACACCCGCTGATCAGA	0.323000													14	60					0	0	0.020292	0	0
PSAP	5660	broad.mit.edu	37	10	73578462	73578462	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:73578462G>A	ENST00000394936.3	-	13	1598	c.1451C>T	c.(1450-1452)tCg>tTg	p.S484L	PSAP_ENST00000394934.1_Missense_Mutation_p.S486L			P07602	SAP_HUMAN	prosaposin	484	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CTTATGGGCCGAGGGGCAGGC	0.488000													8	125					0	0	0.003080	0	0
TNR	7143	broad.mit.edu	37	1	175375720	175375720	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:175375720G>A	ENST00000367674.1	-	3	839	c.131C>T	c.(130-132)tCa>tTa	p.S44L	TNR_ENST00000263525.2_Missense_Mutation_p.S44L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	44					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCCTCCACTGACTGTCTCTG	0.517000													19	115					0	0	0.014323	0	0
RP1	6101	broad.mit.edu	37	8	55539978	55539978	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:55539978T>C	ENST00000220676.1	+	4	3684	c.3536T>C	c.(3535-3537)tTg>tCg	p.L1179S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1179					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTGATGACTTGAAAGCTGCT	0.408000													3	176					0	0	0.004672	0	0
NAGS	162417	broad.mit.edu	37	17	42083499	42083499	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:42083499T>A	ENST00000293404.3	+	3	927	c.809T>A	c.(808-810)gTg>gAg	p.V270E		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	270					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CGCCGCTCCGTGCTTCTCGAC	0.667000													10	16					0	0	0.006214	0	0
EPHB1	2047	broad.mit.edu	37	3	134880873	134880873	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:134880873T>G	ENST00000398015.3	+	7	1806	c.1436T>G	c.(1435-1437)tTc>tGc	p.F479C	EPHB1_ENST00000493838.1_Missense_Mutation_p.F40C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	479	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAATGAGTTCAACTCCTCC	0.547000													3	73					0	0	0.009096	0	0
GGN	199720	broad.mit.edu	37	19	38877088	38877088	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:38877088C>T	ENST00000334928.6	-	3	946	c.814G>A	c.(814-816)Gga>Aga	p.G272R	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	272	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCGCCTCCGCCGCCCCCC	0.647000													8	41					0	0	0.004482	0	0
STK26	51765	broad.mit.edu	37	X	131205199	131205199	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:131205199G>A	ENST00000394334.2	+	8	1139	c.886G>A	c.(886-888)Gca>Aca	p.A296T	MST4_ENST00000481105.1_Missense_Mutation_p.A318T|MST4_ENST00000496850.1_Missense_Mutation_p.A234T|MST4_ENST00000354719.6_Missense_Mutation_p.A296T|MST4_ENST00000394335.2_Missense_Mutation_p.A219T	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		296					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GAGATGGAAGGCAGAAGGACA	0.328000													35	97					0	0	0.027894	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514030	113514030	+	Silent	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:113514030A>G	ENST00000541405.1	-	4	946	c.423T>C	c.(421-423)aaT>aaC	p.N141N	CKAP2L_ENST00000302450.6_Silent_p.N306N			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	306						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATTGACTCCTATTAACCTTTA	0.408000													22	72					0	0	0.010504	0	0
CHD1	1105	broad.mit.edu	37	5	98233025	98233025	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:98233025C>T	ENST00000284049.3	-	10	1515		c.e10-1			NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTTTTAATACCTTTAGTAGAA	0.308000													17	54					0	0	0.007413	0	0
FGD5	152273	broad.mit.edu	37	3	14862067	14862067	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:14862067G>A	ENST00000285046.5	+	1	1599	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	FGD5_ENST00000543601.1_Missense_Mutation_p.V256I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	497					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCAGAAACCGTCCCTGAAGA	0.642000													5	36					0	0	0.014758	0	0
BSPRY	54836	broad.mit.edu	37	9	116132021	116132021	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:116132021G>A	ENST00000374183.4	+	6	847	c.808G>A	c.(808-810)Gac>Aac	p.D270N	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	270	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GGAGCGCTTCGACCACTGGCC	0.577000													15	51					0	0	0.020292	0	0
SP110	3431	broad.mit.edu	37	2	231067413	231067413	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:231067413C>T	ENST00000258381.6	-	9	1007	c.930G>A	c.(928-930)aaG>aaA	p.K310K	SP110_ENST00000540870.1_Silent_p.K316K|SP110_ENST00000358662.4_Silent_p.K310K|SP110_ENST00000258382.5_Silent_p.K310K|SP110_ENST00000392048.3_Silent_p.K308K|SP110_ENST00000338556.3_Intron	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	310					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTTTGAGCTTCTTTTGGATTC	0.458000													27	84					0	0	0.009535	0	0
ACTB	60	broad.mit.edu	37	7	5567491	5567491	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr7:5567491A>G	ENST00000331789.5	-	6	1207	c.1016T>C	c.(1015-1017)gTg>gCg	p.V339A	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	339					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GCCGATCCACACGGAGTACTT	0.622000													9	36					0	0	0.004990	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264049	140264049	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:140264049C>T	ENST00000289272.2	+	1	2196	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.C732C|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGCGCGTGCGCGCCGGGCA	0.672000													28	64					0	0	0.023175	0	0
OBSL1	23363	broad.mit.edu	37	2	220422717	220422717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:220422717C>T	ENST00000404537.1	-	11	3674	c.3618G>A	c.(3616-3618)tgG>tgA	p.W1206*	OBSL1_ENST00000265318.4_Nonsense_Mutation_p.W1114*|OBSL1_ENST00000265317.5_Nonsense_Mutation_p.W197*|OBSL1_ENST00000603926.1_Nonsense_Mutation_p.W1206*|OBSL1_ENST00000373876.1_Nonsense_Mutation_p.W1206*	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1206	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CATTGTGGCTCCAGACCACGG	0.687000													4	12					0	0	0.014758	0	0
POLR2A	5430	broad.mit.edu	37	17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:7399844G>A	ENST00000322644.6	+	4	848	c.449G>A	c.(448-450)gGc>gAc	p.G150D	POLR2A_ENST00000572844.1_Missense_Mutation_p.G150D	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	150					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537000													4	158					0	0	0.009096	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999367	72999367	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:72999367G>A	ENST00000322038.5	+	2	2454	c.1870G>A	c.(1870-1872)Gct>Act	p.A624T	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A669T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	669						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCTGGCCAAGGCTGCGTCCCC	0.572000													14	31					0	0	0.016723	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCTCCTGGCGCAGGGCCTGC	0.642000									Familial Hyperaldosteronism type I				93	81					0	0	0.014410	0	0
LIFR	3977	broad.mit.edu	37	5	38506632	38506632	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:38506632C>T	ENST00000263409.4	-	8	1256	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R365H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	365	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCTTGTAGCACGTGGGCCCAC	0.423000			T	PLAG1	salivary adenoma								31	51					0	0	0.010818	0	0
AHCYL1	10768	broad.mit.edu	37	1	110563392	110563392	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:110563392C>T	ENST00000369799.5	+	16	1872	c.1505C>T	c.(1504-1506)gCc>gTc	p.A502V	AHCYL1_ENST00000359172.3_Missense_Mutation_p.A455V|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A455V	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	502					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TCATTTGATGCCCACCTTACA	0.433000													4	153					0	0	0.009096	0	0
NCAPG	64151	broad.mit.edu	37	4	17827167	17827167	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:17827167G>A	ENST00000251496.2	+	11	1812	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	546					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TGAAATTAAAGAAGTCCACAT	0.308000													6	48					0	0	0.001984	0	0
SLC26A8	116369	broad.mit.edu	37	6	35919019	35919019	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:35919019C>A	ENST00000490799.1	-	19	2746	c.2393G>T	c.(2392-2394)aGg>aTg	p.R798M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R798M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R693M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	798	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TATGACCTTCCTTGACAAGGC	0.493000													15	43					4.14922e-12	4.81691e-12	0.028581	1	0
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:7577142C>T	ENST00000420246.2	-	8	928	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		CTGTTCCGTCCCAGTAGATTA	0.517000		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)			6	11					0	0	0.001984	0	0
ZIC4	84107	broad.mit.edu	37	3	147113851	147113851	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:147113851G>A	ENST00000383075.3	-	3	988	c.476C>T	c.(475-477)aCc>aTc	p.T159I	ZIC4_ENST00000425731.3_Missense_Mutation_p.T197I|ZIC4_ENST00000473123.1_Missense_Mutation_p.T159I|ZIC4_ENST00000484399.1_Missense_Mutation_p.T159I|ZIC4_ENST00000525172.2_Missense_Mutation_p.T209I|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	159						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						GTGCTCCACGGTGACGTGCGT	0.612000													4	128					0	0	0.009096	0	0
TLL1	7092	broad.mit.edu	37	4	167020437	167020437	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:167020437G>A	ENST00000061240.2	+	20	3312	c.2665G>A	c.(2665-2667)Gga>Aga	p.G889R	TLL1_ENST00000507499.1_Missense_Mutation_p.G912R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	889	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGAGTGTGGCGGACGATTGAA	0.418000													12	48					0	0	0.013537	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762359	92762359	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr7:92762359C>T	ENST00000318238.4	-	5	4142	c.2926G>A	c.(2926-2928)Gtt>Att	p.V976I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.V976I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.V976I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	976										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCTGCAACTTCTGTTTTT	0.383000													18	47					0	0	0.006122	0	0
PYGM	5837	broad.mit.edu	37	11	64521023	64521023	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:64521023C>T	ENST00000164139.3	-	11	1769	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	PYGM_ENST00000377432.3_Silent_p.A369A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	457					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGTGGATGCGCGCCACGCCGT	0.652000													3	5					0	0	0.004672	0	0
GCN1L1	10985	broad.mit.edu	37	12	120621395	120621395	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:120621395G>T	ENST00000300648.6	-	5	415	c.403C>A	c.(403-405)Caa>Aaa	p.Q135K		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	135					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTCTCCTTGTCGCTTGGCT	0.542000													3	73					0.00909568	0.00977302	0.009096	1	0
ILF3	3609	broad.mit.edu	37	19	10791116	10791116	+	Silent	SNP	G	G	A	rs150021624	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:10791116G>A	ENST00000449870.1	+	9	1271	c.954G>A	c.(952-954)gcG>gcA	p.A318A	ILF3_ENST00000250241.8_Silent_p.A318A|ILF3_ENST00000589998.1_Silent_p.A318A|ILF3_ENST00000318511.3_Silent_p.A318A|ILF3_ENST00000420083.1_Silent_p.A318A|ILF3_ENST00000407004.3_Silent_p.A318A|ILF3_ENST00000592763.1_Silent_p.A318A|ILF3_ENST00000588657.1_Silent_p.A318A|ILF3_ENST00000590261.1_Silent_p.A318A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	318	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CACAGAGTGCGCAGGTATAGT	0.507000													5	33					0	0	0.014758	0	0
FEZ1	9638	broad.mit.edu	37	11	125359382	125359382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:125359382C>A	ENST00000278919.3	-	2	526	c.292G>T	c.(292-294)Gag>Tag	p.E98*	FEZ1_ENST00000366139.3_Nonsense_Mutation_p.E98*|FEZ1_ENST00000524435.1_Nonsense_Mutation_p.E98*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	98	Poly-Glu.				axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TGAAGGGTCTCCTCCTCCTCT	0.493000													7	61					0.00198382	0.00220182	0.001984	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (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)		tgtggaggctgtggctctggc	0.716000													8	23					0.00448238	0.00486796	0.004482	1	0
SUV39H1	6839	broad.mit.edu	37	X	48558589	48558589	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:48558589G>A	ENST00000453214.2	+	3	300	c.85G>A	c.(85-87)Gga>Aga	p.G29R	SUV39H1_ENST00000337852.6_Silent_p.K102K|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000376687.3_Silent_p.K91K			O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	0	Interaction with SIRT1.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTTCCACAAGGACTTAGAAA	0.567000													3	9					0	0	0.009096	0	0
TH	7054	broad.mit.edu	37	11	2191095	2191095	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:2191095G>A	ENST00000381178.1	-	3	208	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	TH_ENST00000352909.3_Missense_Mutation_p.R33W|TH_ENST00000381175.1_Missense_Mutation_p.R60W|TH_ENST00000333684.5_Missense_Mutation_p.R37W	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	64					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAATGAACCGCGGGGACTGT	0.721000													3	10					0	0	0.004672	0	0
DUSP22	56940	broad.mit.edu	37	6	348266	348266	+	Missense_Mutation	SNP	G	G	T	rs147464089	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:348266G>T	ENST00000604971.1	+	3	1231	c.118G>T	c.(118-120)Gtc>Ttc	p.V40F	DUSP22_ENST00000603453.1_Missense_Mutation_p.V40F|DUSP22_ENST00000605863.1_Missense_Mutation_p.V40F|DUSP22_ENST00000605035.1_Missense_Mutation_p.V40F|DUSP22_ENST00000344450.5_Missense_Mutation_p.V143F|DUSP22_ENST00000419235.2_Missense_Mutation_p.V143F|DUSP22_ENST00000605315.1_Missense_Mutation_p.V40F			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	143					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GAAGCATGAGGTCCATCAGGT	0.582000													4	46					2.56e-06	2.90517e-06	0.009096	1	0
OMD	4958	broad.mit.edu	37	9	95177520	95177520	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:95177520C>T	ENST00000375550.4	-	3	1455	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	394	Asp/Glu-rich (acidic).				cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCAGGATCATCGTGATCTTCA	0.368000			T	USP6	aneurysmal bone cysts								26	38					0	0	0.006320	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686477	53686477	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:53686477C>A	ENST00000262135.4	-	15	2215	c.2122G>T	c.(2122-2124)Ggc>Tgc	p.G708C	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.G708C|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.G708C|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.G708C	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	708	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AATATTCGGCCGCTTTTTTCA	0.348000													14	38					0.00316338	0.00347284	0.024245	1	0
DSG1	1828	broad.mit.edu	37	18	28934345	28934345	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:28934345C>T	ENST00000257192.4	+	15	2398	c.2186C>T	c.(2185-2187)cCt>cTt	p.P729L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.P88L	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	729					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTAGGTTCCCCTGCTGGCTCT	0.453000													32	54					0	0	0.010818	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775641	77775641	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:77775641A>G	ENST00000521891.2	+	11	10139	c.9691A>G	c.(9691-9693)Aaa>Gaa	p.K3231E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K3182E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K3186E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K3205E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGTTGGGCAAAGTTGTAGG	0.438000										HNSCC(33;0.089)			13	144					0	0	0.020292	0	0
DNAH5	1767	broad.mit.edu	37	5	13701428	13701428	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr5:13701428A>T	ENST00000265104.4	-	77	13560	c.13456T>A	c.(13456-13458)Ttt>Att	p.F4486I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4486					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGGGGTTAAAAAAACCCGTC	0.423000									Kartagener syndrome				63	84					0	0	0.014410	0	0
PSMD11	5717	broad.mit.edu	37	17	30796051	30796051	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:30796051C>T	ENST00000261712.3	+	6	746	c.483C>T	c.(481-483)gaC>gaT	p.D161D	PSMD11_ENST00000457654.2_Silent_p.D161D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AAAAGATGGACGACAAAGCTC	0.448000													14	33					0	0	0.020292	0	0
PPP5C	5536	broad.mit.edu	37	19	46879819	46879819	+	Silent	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:46879819A>G	ENST00000012443.4	+	4	724	c.621A>G	c.(619-621)aaA>aaG	p.K207K	PPP5C_ENST00000391919.1_Silent_p.K101K	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	207	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGCACCGGAAATGTGCCTACC	0.547000													10	25					0	0	0.013537	0	0
PHKB	5257	broad.mit.edu	37	16	47644777	47644777	+	Silent	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:47644777G>A	ENST00000455779.1	+	15	1568	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	PHKB_ENST00000566044.1_Silent_p.Q461Q|PHKB_ENST00000299167.8_Silent_p.Q468Q|PHKB_ENST00000323584.5_Silent_p.Q468Q			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	468					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATCCTGTCCAGCGCTATGTCC	0.368000													13	34					0	0	0.024245	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958773	88958773	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:88958773G>T	ENST00000268679.4	-	4	896	c.500C>A	c.(499-501)cCa>cAa	p.P167Q	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.P91Q|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P142Q|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P81Q|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P81Q	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	167	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCCGCAGGCTGGGGGCAGGTG	0.647000			T	RUNX1	AML								18	23					4.35082e-09	4.99355e-09	0.010504	1	0
ZNF711	7552	broad.mit.edu	37	X	84523345	84523345	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:84523345C>T	ENST00000360700.4	+	8	1986	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	ZNF711_ENST00000542798.1_Missense_Mutation_p.S163L|ZNF711_ENST00000373165.3_Missense_Mutation_p.S321L|ZNF711_ENST00000395402.1_Intron|ZNF711_ENST00000276123.3_Missense_Mutation_p.S321L			Q9Y462	ZN711_HUMAN	zinc finger protein 711	321					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGTCAAGCATCAGGTAAGAGA	0.303000													14	26					0	0	0.028581	0	0
SAA2	6289	broad.mit.edu	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E					serum amyloid A2									p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572000													4	51					0	0	0.009096	0	0
DNAH3	55567	broad.mit.edu	37	16	20999384	20999384	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:20999384C>T	ENST00000261383.3	-	45	6604	c.6605G>A	c.(6604-6606)cGa>cAa	p.R2202Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2202	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCGAGTGAATCGTCCTGGGGA	0.453000													14	46					0	0	0.024245	0	0
RBM47	54502	broad.mit.edu	37	4	40440251	40440251	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr4:40440251C>T	ENST00000319592.4	-	4	1369	c.660G>A	c.(658-660)caG>caA	p.Q220Q	RBM47_ENST00000514014.1_Silent_p.Q182Q|RBM47_ENST00000381795.6_Silent_p.Q220Q|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Silent_p.Q220Q|RBM47_ENST00000295971.7_Silent_p.Q220Q			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	220	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGCCCCACAGCTGGATGCGGC	0.647000													26	44					0	0	0.027356	0	0
NCBP2	22916	broad.mit.edu	37	3	196669371	196669371	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr3:196669371A>T	ENST00000321256.5	-	1	97	c.4T>A	c.(4-6)Tcg>Acg	p.S2T	NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Missense_Mutation_p.S2T	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	2					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		AGGCCACCCGACATAGTGCAG	0.682000											OREG0016012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	0.009096	0	0
LPCAT3	10162	broad.mit.edu	37	12	7087504	7087504	+	Splice_Site	SNP	G	G	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:7087504G>T	ENST00000261407.4	-	9	1124	c.1040_splice	c.e9+1	p.R347_splice	LPCAT3_ENST00000535021.1_Intron|U47924.19_ENST00000564245.1_RNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	347					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GCAGCTCACCGGGCCACCCAG	0.577000													4	228					0.014758	0.0156901	0.014758	1	0
RALYL	138046	broad.mit.edu	37	8	85799858	85799858	+	Silent	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:85799858G>A	ENST00000521268.1	+	8	1810	c.705G>A	c.(703-705)ttG>ttA	p.L235L	RALYL_ENST00000522455.1_Silent_p.L235L|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Silent_p.L224L|RALYL_ENST00000517638.1_Silent_p.L248L|RALYL_ENST00000521695.1_Silent_p.L235L|RALYL_ENST00000523850.1_Silent_p.L162L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	235							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGAAGCAATTGGAAGAGAGTC	0.488000													10	108					0	0	0.010729	0	0
LRRC30	339291	broad.mit.edu	37	18	7231400	7231400	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr18:7231400C>T	ENST00000383467.2	+	1	278	c.264C>T	c.(262-264)ccC>ccT	p.P88P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	88								p.P88P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCTCCCTCCCGAGGTGGGGA	0.587000													9	24					0	0	0.006214	0	0
ACTA1	58	broad.mit.edu	37	1	229568748	229568748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:229568748G>A	ENST00000366684.3	-	2	217	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	ACTA1_ENST00000366683.2_Missense_Mutation_p.R39C	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	39					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGTCGGGGGCGGCCCACGATG	0.726000													5	33					0	0	0.001984	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696765	153696765	+	Silent	SNP	C	C	T	rs140160422	byFrequency	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:153696765C>T	ENST00000369682.3	+	23	4258	c.4083C>T	c.(4081-4083)cgC>cgT	p.R1361R		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1361					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCGCGACCGCGGCACCGTGG	0.667000													9	24					0	0	0.004482	0	0
TSSK2	23617	broad.mit.edu	37	22	19119046	19119046	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr22:19119046G>A	ENST00000399635.2	+	1	726	c.134G>A	c.(133-135)cGc>cAc	p.R45H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	45	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ATCATCGACCGCAAGAAAACA	0.488000													3	31					0	0	0.004672	0	0
ZNF208	7757	broad.mit.edu	37	19	22157207	22157207	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:22157207A>G	ENST00000397126.4	-	4	777	c.629T>C	c.(628-630)tTt>tCt	p.F210S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGACCAGTTAAAAGCTTTGCC	0.368000													18	49					0	0	0.007413	0	0
FEM1B	10116	broad.mit.edu	37	15	68582025	68582025	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr15:68582025A>G	ENST00000306917.4	+	2	944	c.329A>G	c.(328-330)cAt>cGt	p.H110R		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	110					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTAGTCAGCCATGGAGCCAAC	0.448000													10	24					0	0	0.008291	0	0
ARL3	403	broad.mit.edu	37	10	104445679	104445679	+	Missense_Mutation	SNP	G	G	A	rs150077149		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr10:104445679G>A	ENST00000260746.5	-	5	526	c.395C>T	c.(394-396)aCa>aTa	p.T132I		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	132					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		AGGGGCTGCTGTGAGCAAATC	0.507000													15	43					0	0	0.020292	0	0
SEC16A	9919	broad.mit.edu	37	9	139371059	139371059	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:139371059G>A	ENST00000313050.7	-	1	1082	c.1009C>T	c.(1009-1011)Ctc>Ttc	p.L337F	SEC16A_ENST00000371706.3_Missense_Mutation_p.L159F|SEC16A_ENST00000431893.2_Missense_Mutation_p.L159F|SEC16A_ENST00000290037.6_Missense_Mutation_p.L159F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	159					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)		CCCCGGGCGAGGGGGTTCACA	0.617000													7	39					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9010979	9010979	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:9010979G>T	ENST00000397910.4	-	37	39142	c.38939C>A	c.(38938-38940)cCc>cAc	p.P12980H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12982					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGCTGGTGGGGGCCACAGA	0.517000													25	66					6.12954e-19	7.19864e-19	0.024334	1	0
RSPO3	84870	broad.mit.edu	37	6	127476478	127476478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr6:127476478C>T	ENST00000356698.4	+	4	1118	c.529C>T	c.(529-531)Cga>Tga	p.R177*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.R177*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	177	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AACACGGGTCCGAGAAATAAT	0.463000													28	58					0	0	0.006320	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161160954	161160954	+	Missense_Mutation	SNP	G	G	A	rs114728887	by1000genomes	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:161160954G>A	ENST00000367996.4	-	9	2916	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	830	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGGCGCCGCCGAAGGATC	0.637000													11	26					0	0	0.013537	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													3	66					0	0	0.009096	0	0
KSR2	283455	broad.mit.edu	37	12	118199176	118199176	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr12:118199176T>C	ENST00000425217.1	-	4	593	c.539A>G	c.(538-540)tAt>tGt	p.Y180C	KSR2_ENST00000339824.5_Missense_Mutation_p.Y209C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	209					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGACAATAGTGCTGGAC	0.687000													7	19					0	0	0.003080	0	0
WDFY1	57590	broad.mit.edu	37	2	224749380	224749380	+	Silent	SNP	C	C	G	rs140777534		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr2:224749380C>G	ENST00000233055.4	-	9	1020	c.918G>C	c.(916-918)acG>acC	p.T306T		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	306						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TTAGCCCCAGCGTCTTGGTGT	0.453000													57	208					0	0	0.014410	0	0
ZNF648	127665	broad.mit.edu	37	1	182026983	182026983	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr1:182026983G>A	ENST00000339948.3	-	2	370	c.163C>T	c.(163-165)Cca>Tca	p.P55S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTGCCCCTTGGACAGGCCACC	0.562000													9	58					0	0	0.008291	0	0
TUSC3	7991	broad.mit.edu	37	8	15601052	15601052	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr8:15601052G>A	ENST00000382020.4	+	8	1076	c.868G>A	c.(868-870)Gct>Act	p.A290T	TUSC3_ENST00000503731.1_Missense_Mutation_p.A290T|TUSC3_ENST00000506802.1_Missense_Mutation_p.A290T	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	290					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.A290T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGCAGATGCCGCTATCACCAT	0.393000													45	46					0	0	0.014410	0	0
ZNF616	90317	broad.mit.edu	37	19	52619805	52619805	+	Silent	SNP	C	C	T			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr19:52619805C>T	ENST00000600228.1	-	4	873	c.612G>A	c.(610-612)caG>caA	p.Q204Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATGTATCCTCTGATGATTAA	0.393000													42	93					0	0	0.008740	0	0
AHNAK	79026	broad.mit.edu	37	11	62290908	62290908	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr11:62290908T>C	ENST00000378024.4	-	5	11255	c.10981A>G	c.(10981-10983)Atg>Gtg	p.M3661V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3661					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCAGGCATCTTGAACTTG	0.468000													55	177					0	0	0.014410	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38493127	38493127	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr22:38493127G>A	ENST00000381669.3	-	7	668	c.524C>T	c.(523-525)gCg>gTg	p.A175V	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A175V	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	175	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CAATTCAGCCGCCCGCTGACT	0.607000													10	33					0	0	0.010729	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971045	21971059	+	In_Frame_Del	DEL	CCAGCCGCGCCCCGG	CCAGCCGCGCCCCGG	-	rs137854598		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr9:21971045_21971059delCCAGCCGCGCCCCGG	ENST00000579755.1	-	2	634_648	c.342_356delCCGGGGCGCGGCTGG	c.(340-357)gga>gg	p.GRGAAG114del	CDKN2A_ENST00000530628.2_In_Frame_Del_p.GRGAAG114del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.AGARLD100del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.AGARLD100del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.GRGAAG155del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.AGARLD49del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.AGARLD49del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.AGARLD100del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.AGARLD100del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.AGARLD49del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.AGARLD49del|CDKN2A_ENST00000479692.2_In_Frame_Del_p.AGARLD49del|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	130			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.G101G(3)|p.A102V(3)|p.L104fs*42(2)|p.D105fs*41(2)|p.A102A(2)|p.A102E(2)|p.H83fs*2(2)|p.R103Q(1)|p.R103R(1)|p.T93_D105del(1)|p.A100V(1)|p.G101fs*17(1)|p.A68fs*3(1)|p.0(1)|p.A102fs*18(1)|p.R103fs*43(1)|p.G101W(1)|p.D105N(1)|p.A102P(1)|p.A102T(1)|p.A102fs*42(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)		TCGCGCACGTCCAGCCGCGCCCCGGCCCGGTGCAG	0.758		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			21	30	---	---	---	---					
TMEM255B	348013	broad.mit.edu	37	13	114503876	114503957	+	Splice_Site	DEL	CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	-	rs9577890	by1000genomes	TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr13:114503876_114503957delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	ENST00000375353.3	+	6	527_536	c.509_splice	c.e6+1	p.167_splice		NM_182614.2	NP_872420.1			transmembrane protein 255B																		GACCTCTATGCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACACCTGCGGGAG	0.652													7	11	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81161713	81161713	+	RNA	DEL	A	A	-	rs113658800		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr16:81161713delA	ENST00000533478.1	-	0	4099				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAATCAAAATAATCTTAACAC	0.438													4	2	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													7	3	---	---	---	---					
KRT17	3872	broad.mit.edu	37	17	39780387	39780388	+	Frame_Shift_Ins	INS	-	-	G	rs139279688		TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chr17:39780387_39780388insG	ENST00000311208.8	-	1	441_442	c.374_375insC	c.(373-375)cggfs	p.R125fs	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	125	Linker 1.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGGCGGGCCCCGGGGCCTGCCT	0.634													13	177	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53562382	53562384	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:53562382_53562384delCTT	ENST00000342160.3	-	80	13067_13069	c.12610_12612delAAG	c.(12610-12612)del	p.K4204del	HUWE1_ENST00000262854.6_In_Frame_Del_p.K4204del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4204	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.K4094del(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTACATACTCCTTCTTATTCTCC	0.438													19	61	---	---	---	---					
HEPH	9843	broad.mit.edu	37	X	65393494	65393495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5330-01A-01D-1683-08	TCGA-CQ-5330-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ce7e702-9b62-459e-b2b4-a26cabba3a93	690340f2-8307-43ea-ac77-21828b243e05	g.chrX:65393494_65393495insC	ENST00000519389.1	+	4	817_818	c.638_639insC	c.(637-639)gagfs	p.E213fs	HEPH_ENST00000441993.2_Frame_Shift_Ins_p.E162fs|HEPH_ENST00000343002.2_Frame_Shift_Ins_p.E159fs|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.E162fs|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.E162fs			Q9BQS7	HEPH_HUMAN	hephaestin	159					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCCCGGGGGGCAGCCATATCT	0.535													10	20	---	---	---	---