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
SNX30	401548	broad.mit.edu	37	9	115598545	115598545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:115598545G>T	ENST00000374232.3	+	5	834	c.670G>T	c.(670-672)Gag>Tag	p.E224*		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	224					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAGAATGGGCGAGTCAGTCAA	0.507000													56	194					5.82089e-37	6.47717e-37	0.870114	1	0
DVL3	1857	broad.mit.edu	37	3	183873499	183873499	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:183873499G>A	ENST00000313143.3	+	1	324	c.76G>A	c.(76-78)Gag>Aag	p.E26K	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Missense_Mutation_p.E26K	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	26	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCCCGCCGAGCGCGTCAC	0.617000													24	84					0	0	0.693898	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52902547	52902547	+	Missense_Mutation	SNP	C	C	A	rs149301397	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:52902547C>A	ENST00000371544.3	-	26	4301	c.4039G>T	c.(4039-4041)Gat>Tat	p.D1347Y	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D1348Y	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1347					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCTCGAGTATCGTGGAGGTCT	0.473000													5	271					0.184627	0.188786	0.184627	1	0
DYRK1B	9149	broad.mit.edu	37	19	40319149	40319149	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:40319149C>A	ENST00000593685.1	-	6	1063	c.595G>T	c.(595-597)Gac>Tac	p.D199Y	DYRK1B_ENST00000597639.1_Missense_Mutation_p.D199Y|DYRK1B_ENST00000323039.5_Missense_Mutation_p.D199Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D199Y|DYRK1B_ENST00000348817.3_Missense_Mutation_p.D199Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	199	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCAGGAGGTCGTACAGGTTG	0.622000													6	10					0.00116845	0.00121668	0.217242	1	0
C1orf177	163747	broad.mit.edu	37	1	55277720	55277720	+	Splice_Site	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:55277720G>A	ENST00000358193.3	+	6	674	c.618_splice	c.e6-1	p.G207_splice	C1orf177_ENST00000371273.3_Splice_Site_p.G207_splice	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	207										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GTGCTCTAGGGGAGTGGTCTG	0.627000													53	164					0	0	0.870114	0	0
TRIM62	55223	broad.mit.edu	37	1	33625294	33625294	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:33625294G>A	ENST00000291416.5	-	3	989	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.S131S	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	252						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CTTACCGCTCGGACAGTGAGG	0.682000													14	31					0	0	0.479597	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99339876	99339876	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:99339876G>T	ENST00000408927.3	+	10	1221	c.1108G>T	c.(1108-1110)Gta>Tta	p.V370L	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V279L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V322L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V321L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V371L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	370							binding|GTPase activator activity	p.V371L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GGACAGACATGTAGAAGATGG	0.378000			T	NUP98	T-ALL								4	83					0.014758	0.0151587	0.184627	1	0
NIPBL	25836	broad.mit.edu	37	5	36986340	36986340	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:36986340A>G	ENST00000282516.8	+	10	3557	c.3058A>G	c.(3058-3060)Aga>Gga	p.R1020G	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R1020G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1020					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTAAAGATAGAGAGGACAA	0.299000													53	156					0	0	0.870114	0	0
ZNF99	7652	broad.mit.edu	37	19	22939037	22939037	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:22939037A>T	ENST00000397104.3	-	8	3083	c.3084T>A	c.(3082-3084)caT>caA	p.H1028Q						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAATTATCTTATGTTTAGTAA	0.333000													52	135					0	0	0.870114	0	0
HTR1F	3355	broad.mit.edu	37	3	88039929	88039929	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:88039929C>G	ENST00000319595.4	+	1	84	c.30C>G	c.(28-30)aaC>aaG	p.N10K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	10					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CTGATCAAAACTTGACCTCAG	0.373000													45	107					0	0	0.870114	0	0
FLG	2312	broad.mit.edu	37	1	152278060	152278060	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:152278060G>C	ENST00000368799.1	-	3	9337	c.9302C>G	c.(9301-9303)tCa>tGa	p.S3101*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3101	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGGATGCTGAGTGCCTGGA	0.582000									Ichthyosis				110	485					0	0	0.870114	0	0
NPHP3	27031	broad.mit.edu	37	3	132407968	132407968	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:132407968G>A	ENST00000337331.5	-	20	2919	c.2833C>T	c.(2833-2835)Ctt>Ttt	p.L945F	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	945					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTTCATAAAGATCAGCTAAG	0.448000													31	220					0	0	0.796494	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229433	140229433	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140229433C>T	ENST00000378122.3	+	1	2077	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.N451N|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCACCAGCGT	0.672000													6	155					0	0	0.217242	0	0
YWHAB	7529	broad.mit.edu	37	20	43530177	43530177	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:43530177G>A	ENST00000372839.3	+	3	277	c.3G>A	c.(1-3)atG>atA	p.M1I	YWHAB_ENST00000353703.4_Start_Codon_SNP_p.M1I|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	1					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TCTAGGGAATGACAATGGATA	0.473000													20	91					0	0	0.557998	0	0
FNIP2	57600	broad.mit.edu	37	4	159791528	159791528	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:159791528C>T	ENST00000264433.6	+	14	2931	c.2856C>T	c.(2854-2856)tgC>tgT	p.C952C	FNIP2_ENST00000379346.3_Silent_p.C975C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	952					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGGCTACTGCCCCACATACA	0.522000													4	110					0	0	0.184627	0	0
PPP6R1	22870	broad.mit.edu	37	19	55752732	55752732	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:55752732T>C	ENST00000412770.2	-	9	1602	c.1036A>G	c.(1036-1038)Atg>Gtg	p.M346V	PPP6R1_ENST00000587283.1_Missense_Mutation_p.M346V	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	346	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						GGAGCCAGCATGCCCCATGTC	0.667000													12	40					0	0	0.539581	0	0
C19orf18	147685	broad.mit.edu	37	19	58472909	58472909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:58472909G>A	ENST00000314391.3	-	5	483	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	128						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCCTCAGCCTGTGCCAGTCGA	0.428000													50	147					0	0	0.870114	0	0
ETNPPL	64850	broad.mit.edu	37	4	109667991	109667991	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:109667991T>A	ENST00000296486.3	-	10	1253	c.1099A>T	c.(1099-1101)Att>Ttt	p.I367F	ETNPPL_ENST00000512646.1_Missense_Mutation_p.I309F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.I327F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I361F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TCAATTCCAATAAAAAGGCCA	0.448000													67	202					0	0	0.870114	0	0
CHD3	1107	broad.mit.edu	37	17	7810280	7810280	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:7810280T>C	ENST00000380358.4	+	30	4775	c.4774T>C	c.(4774-4776)Tct>Cct	p.S1592P	CHD3_ENST00000330494.7_Missense_Mutation_p.S1533P|CHD3_ENST00000358181.4_Missense_Mutation_p.S1533P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1533	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGAGCCTCCTCTCCTACCAA	0.562000													61	260					0	0	0.870114	0	0
IDUA	3425	broad.mit.edu	37	4	996877	996877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:996877G>T	ENST00000453894.1	+	7	1610	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	IDUA_ENST00000514224.1_Nonsense_Mutation_p.E354*|IDUA_ENST00000247933.4_Nonsense_Mutation_p.E486*			P35475	IDUA_HUMAN	iduronidase, alpha-L-	486					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CCCCGACGGCGAGTGGCGGCG	0.771000													3	10					0.217242	0.221139	0.217242	1	0
CLPX	10845	broad.mit.edu	37	15	65472462	65472462	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:65472462G>A	ENST00000300107.3	-	2	348	c.160C>T	c.(160-162)Ctt>Ttt	p.L54F		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	54					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AAGGATCTAAGAGGAGCTCTT	0.363000													32	154					0	0	0.750413	0	0
MDH1B	130752	broad.mit.edu	37	2	207611051	207611051	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:207611051C>T	ENST00000374412.3	-	8	1591	c.1316G>A	c.(1315-1317)aGt>aAt	p.S439N	MDH1B_ENST00000454776.2_Missense_Mutation_p.S439N|MDH1B_ENST00000392214.2_Missense_Mutation_p.S226N|MDH1B_ENST00000449792.1_Missense_Mutation_p.S341N	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	439					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TATTTGTTCACTTATTTCAAC	0.393000													32	74					0	0	0.740014	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													3	75					0	0	0.115264	0	0
GH2	2689	broad.mit.edu	37	17	61957832	61957832	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:61957832G>A	ENST00000423893.2	-	5	564	c.503C>T	c.(502-504)tCc>tTc	p.S168F	GH2_ENST00000456543.2_Missense_Mutation_p.P167S|GH2_ENST00000449787.2_Missense_Mutation_p.S153F|GH2_ENST00000332800.7_Silent_p.V252V			P01242	SOM2_HUMAN	growth hormone 2	168						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CTTGCTGTAGGACTGATTGAA	0.542000													38	133					0	0	0.788014	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	70					0	0	0.184627	0	0
MYH13	8735	broad.mit.edu	37	17	10222179	10222179	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:10222179C>T	ENST00000418404.3	-	26	3829	c.3666G>A	c.(3664-3666)gaG>gaA	p.E1222E	MYH13_ENST00000570743.1_Silent_p.E1222E|MYH13_ENST00000252172.4_Silent_p.E1222E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1222					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTCTCCTTCTCCAGCTTCT	0.557000													27	168					0	0	0.717897	0	0
OXA1L	5018	broad.mit.edu	37	14	23235906	23235906	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:23235906G>A	ENST00000285848.5	+	1	176	c.176G>A	c.(175-177)gGc>gAc	p.G59D	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CCTCTTCCGGGCAAAATGGCG	0.612000													5	253					0	0	0.184627	0	0
TPTE	7179	broad.mit.edu	37	21	10934945	10934945	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr21:10934945T>A	ENST00000298232.7	-	14	1161	c.794A>T	c.(793-795)aAt>aTt	p.N265I	TPTE_ENST00000342420.5_Missense_Mutation_p.N245I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.N283I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	283	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCATAGATTGTAGACTCG	0.328000													15	237					0	0	0.520397	0	0
SYNE2	23224	broad.mit.edu	37	14	64464044	64464044	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:64464044A>G	ENST00000358025.3	+	25	3408	c.3178A>G	c.(3178-3180)Aga>Gga	p.R1060G	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R1060G|SYNE2_ENST00000554584.1_Missense_Mutation_p.R1060G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1060					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCTGAGAATAGAGGAGGGGA	0.383000													6	32					0	0	0.278610	0	0
DROSHA	29102	broad.mit.edu	37	5	31515178	31515178	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:31515178C>T	ENST00000511367.2	-	7	1451	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	DROSHA_ENST00000442743.1_Missense_Mutation_p.E366K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E366K|DROSHA_ENST00000344624.3_Missense_Mutation_p.E403K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	403					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCTTCTTCTTCCTCCTCATTC	0.468000													37	192					0	0	0.819951	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133858	21133858	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr22:21133858C>T	ENST00000215727.5	+	2	541	c.258C>T	c.(256-258)ttC>ttT	p.F86F	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.F86F|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	86	2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like).				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AGAAGATATTCAGTGAAGACG	0.527000													29	76					0	0	0.760397	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760530	79760530	+	Splice_Site	SNP	C	C	T	rs140151474	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:79760530C>T	ENST00000305428.3	+	4	2630	c.2553_splice	c.e4-1	p.T852_splice		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	852						integral to membrane		p.T852M(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGCTTTTAGACGCAAGAATCT	0.378000													18	36					0	0	0.520397	0	0
SLIT2	9353	broad.mit.edu	37	4	20619158	20619158	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:20619158T>A	ENST00000504154.1	+	36	4485	c.4233T>A	c.(4231-4233)gaT>gaA	p.D1411E	SLIT2_ENST00000273739.5_Missense_Mutation_p.D1424E|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1407E|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1403E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1411					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAGGAGGATCTGTTTAACC	0.552000													16	51					0	0	0.479597	0	0
DSCAML1	57453	broad.mit.edu	37	11	117302401	117302401	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:117302401C>T	ENST00000321322.6	-	31	5404	c.5403G>A	c.(5401-5403)cgG>cgA	p.R1801R	DSCAML1_ENST00000527706.1_Silent_p.R1531R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1741					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGTACCGGTTCCGGGTGCTGT	0.612000													48	130					0	0	0.870114	0	0
MGRN1	23295	broad.mit.edu	37	16	4731639	4731639	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:4731639C>T	ENST00000399577.5	+	13	1313	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L	MGRN1_ENST00000586183.1_Missense_Mutation_p.S385L|MGRN1_ENST00000262370.7_Missense_Mutation_p.S407L|MGRN1_ENST00000588994.1_Missense_Mutation_p.S385L|MGRN1_ENST00000415496.1_Missense_Mutation_p.S386L	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	407					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GCCATCCCCTCGGCCCCTCTT	0.637000													6	128					0	0	0.217242	0	0
ACRC	93953	broad.mit.edu	37	X	70830641	70830641	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:70830641G>A	ENST00000373695.1	+	10	2259	c.1722G>A	c.(1720-1722)caG>caA	p.Q574Q	ACRC_ENST00000373696.3_Silent_p.Q574Q|ACRC_ENST00000471950.1_3'UTR			Q96QF7	ACRC_HUMAN	acidic repeat containing	574						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCAAGATCCAGATTGGCTTGA	0.507000													8	33					0	0	0.435327	0	0
LRP1B	53353	broad.mit.edu	37	2	142238095	142238095	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:142238095C>T	ENST00000389484.3	-	3	1184	c.213G>A	c.(211-213)gaG>gaA	p.E71E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	71					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCTACCTCCTCGGGACCTG	0.388000										TSP Lung(27;0.18)			24	89					0	0	0.706142	0	0
TBL1X	6907	broad.mit.edu	37	X	9673050	9673050	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:9673050G>A	ENST00000217964.7	+	13	1772	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	TBL1X_ENST00000536365.1_Missense_Mutation_p.D327N|TBL1X_ENST00000407597.2_Missense_Mutation_p.D378N|TBL1X_ENST00000380961.1_Missense_Mutation_p.D327N|TBL1X_ENST00000424279.1_Missense_Mutation_p.D327N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	378					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCTTGATGTGGACTGGCAGAA	0.527000													47	152					0	0	0.870114	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													4	36					0	0	0.387290	0	0
ZNF808	388558	broad.mit.edu	37	19	53057763	53057763	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:53057763C>G	ENST00000359798.4	+	5	1774	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCATCGTAGACTTCACACTCT	0.413000													59	251					0	0	0.870114	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1756596	1756596	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:1756596G>A	ENST00000250894.4	+	1	413	c.256G>A	c.(256-258)Gac>Aac	p.D86N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D86N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	86					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCTGCGCGAGGACAACGAGCA	0.682000													3	13					0	0	0.115264	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536980	140536980	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140536980C>T	ENST00000539533.1	+	1	1404	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A																								ACAGCCCCGCCCTGCACATCG	0.632000													42	180					0	0	0.870114	0	0
ASTN1	460	broad.mit.edu	37	1	176915237	176915237	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:176915237G>A	ENST00000367654.2	-	13	2111	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	ASTN1_ENST00000367657.3_Missense_Mutation_p.L692F|ASTN1_ENST00000361833.2_Missense_Mutation_p.L692F|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.L692F			O14525	ASTN1_HUMAN	astrotactin 1	700	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACACCAAGCTTGTAGTCC	0.517000													6	116					0	0	0.217242	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135757211	135757211	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:135757211C>T	ENST00000250617.6	-	19	3195	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E510K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E510K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E537K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	664					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CAGTAGGCTTCGATCACTTTA	0.413000													16	76					0	0	0.539581	0	0
THSD7A	221981	broad.mit.edu	37	7	11630143	11630143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:11630143C>T	ENST00000423059.3	-	4	1648	c.1397G>A	c.(1396-1398)tGc>tAc	p.C466Y		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	466	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCCTGCACGCAGTACACCTC	0.532000										HNSCC(18;0.044)			19	76					0	0	0.575678	0	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185431231	185431231	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:185431231G>C	ENST00000296270.1	+	1	152	c.16G>C	c.(16-18)Gat>Cat	p.D6H	IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000346192.3_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AACACCACTAGATAACTGTCT	0.463000													4	77					0	0	0.217242	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CCGGTTCATGCCGCCCATGCA	0.582000		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)			28	42					1.22384e-17	1.34208e-17	0.769981	1	0
FGD1	2245	broad.mit.edu	37	X	54492271	54492271	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:54492271C>T	ENST00000375135.3	-	7	2088	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	452	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCAATGCGTGGATAGCG	0.557000													16	82					0	0	0.575678	0	0
RSPO2	340419	broad.mit.edu	37	8	109001434	109001434	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:109001434A>G	ENST00000276659.5	-	3	753	c.133T>C	c.(133-135)Tct>Cct	p.S45P	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	45					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TTTGAACAAGACAAACAACCC	0.378000													19	92					0	0	0.608945	0	0
ALKBH5	54890	broad.mit.edu	37	17	18110247	18110247	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:18110247C>T	ENST00000399138.4	+	3	975	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	324						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GAAACCCAAGCGGTCCCACCG	0.587000													75	319					0	0	0.870114	0	0
MALAT1	378938	broad.mit.edu	37	11	65269788	65269788	+	RNA	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:65269788A>G	ENST00000534336.1	+	0	4556					NR_002819.2																						TAAAACTACTATAGAAACTGC	0.318000													22	24					0	0	0.592651	0	0
BACH1	571	broad.mit.edu	37	21	30693761	30693761	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr21:30693761G>A	ENST00000399921.1	+	2	403	c.160G>A	c.(160-162)Gca>Aca	p.A54T	BACH1_ENST00000286800.3_Missense_Mutation_p.A54T	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	54	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CGTGCTGGCGGCATGCAGCAG	0.517000													4	150					0	0	0.184627	0	0
PASD1	139135	broad.mit.edu	37	X	150844493	150844493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:150844493G>T	ENST00000370357.4	+	16	2445	c.2200G>T	c.(2200-2202)Gag>Tag	p.E734*		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	734						nucleus	signal transducer activity	p.E734*(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGTAGGAGTCGAGGGACCTCC	0.532000													56	261					2.78941e-39	3.13463e-39	0.870114	1	0
ALKBH4	54784	broad.mit.edu	37	7	102097843	102097843	+	Nonstop_Mutation	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:102097843A>T	ENST00000292566.3	-	3	946	c.907T>A	c.(907-909)Tga>Aga	p.*303R		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	0						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GAGGCGGTTCACACGGGTCTT	0.602000													20	95					0	0	0.608945	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475977	140475977	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140475977G>A	ENST00000194155.4	+	1	1751	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		535	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCGCAGACCG	0.692000													16	90					0	0	0.479597	0	0
PEX14	5195	broad.mit.edu	37	1	10659313	10659313	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:10659313T>C	ENST00000356607.4	+	4	268	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	63					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GATGAAGAGATTGATATGGCC	0.542000													3	125					0	0	0.115264	0	0
SCD	6319	broad.mit.edu	37	10	102116451	102116451	+	Silent	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr10:102116451C>G	ENST00000370355.2	+	5	1191	c.810C>G	c.(808-810)ctC>ctG	p.L270L		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	270					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CTGCCCACCTCTTCGGATATC	0.488000													3	139					0	0	0.115264	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323643	44323643	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr21:44323643C>T	ENST00000354250.2	+	3	590	c.521C>T	c.(520-522)aCt>aTt	p.T174I	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TCAGAGGTCACTCCTCGAGTG	0.532000													65	181					0	0	0.870114	0	0
EGFL8	80864	broad.mit.edu	37	6	32134330	32134330	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:32134330T>C	ENST00000395512.1	+	3	262	c.157T>C	c.(157-159)Tac>Cac	p.Y53H	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.Y53H			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	53	EMI.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CAACGAGTCCTACAGCCAACC	0.592000													30	128					0	0	0.740014	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963607	73963607	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:73963607T>G	ENST00000373468.1	-	3	1436	c.785A>C	c.(784-786)gAg>gCg	p.E262A	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E262A			Q5QGS0	K2022_HUMAN	KIAA2022	262					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATAAAAGTCTCGAAGTAACC	0.393000													10	303					0	0	0.361761	0	0
HSD17B11	51170	broad.mit.edu	37	4	88312201	88312201	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:88312201G>A	ENST00000358290.4	-	1	337	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	HSD17B11_ENST00000507286.1_Missense_Mutation_p.L8F	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	8					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGAAGCAGGAGGATGTCCAGA	0.443000													18	57					0	0	0.520397	0	0
ATP7A	538	broad.mit.edu	37	X	77254135	77254135	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:77254135C>T	ENST00000341514.6	+	5	1652	c.1497C>T	c.(1495-1497)tgC>tgT	p.C499C	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.C499C	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	499	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GCATGACTTGCGCTTCCTGTG	0.408000													71	250					0	0	0.870114	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987995	15987995	+	Silent	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:15987995T>C	ENST00000345034.1	+	1	1632	c.1632T>C	c.(1630-1632)ccT>ccC	p.P544P	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	544					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTCTGTCCTGATGCTTCGA	0.423000													5	262					0	0	0.184627	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821252	35821252	+	Silent	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:35821252G>C	ENST00000399989.1	+	2	1218	c.939G>C	c.(937-939)ctG>ctC	p.L313L	MAGEB16_ENST00000399988.1_Silent_p.L313L|MAGEB16_ENST00000399985.1_Silent_p.L313L|MAGEB16_ENST00000399992.1_Silent_p.L345L|MAGEB16_ENST00000399987.1_Silent_p.L313L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	313										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CGGAAGCTCTGAAAGAGGAAG	0.493000													7	27					0	0	0.248553	0	0
AKAP11	11215	broad.mit.edu	37	13	42876708	42876708	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:42876708A>G	ENST00000025301.2	+	8	4001	c.3826A>G	c.(3826-3828)Aaa>Gaa	p.K1276E		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1276					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAAATAGCAAAAGTCCGAAA	0.373000													26	95					0	0	0.667858	0	0
OR4N5	390437	broad.mit.edu	37	14	20612693	20612693	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:20612693G>T	ENST00000333629.1	+	1	799	c.799G>T	c.(799-801)Gct>Tct	p.A267S		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCTTTCCCAGCTGACAAGGT	0.428000													106	402					1.98007e-57	2.2362e-57	0.870114	1	0
C17orf67	339210	broad.mit.edu	37	17	54872507	54872507	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:54872507C>T	ENST00000397861.2	-	7	1470	c.191G>A	c.(190-192)cGc>cAc	p.R64H	C17orf67_ENST00000575658.1_Missense_Mutation_p.R88H|C17orf67_ENST00000397862.2_Missense_Mutation_p.R88H			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	88						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					CTCCTCAGCGCGATGCTCCAG	0.547000													13	49					0	0	0.457914	0	0
ANKRD17	26057	broad.mit.edu	37	4	73990709	73990709	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:73990709T>A	ENST00000358602.4	-	18	3529	c.3413A>T	c.(3412-3414)aAt>aTt	p.N1138I	ANKRD17_ENST00000330838.6_Missense_Mutation_p.N887I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.N1025I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1138					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCTGCACCATTGTCCAGCAA	0.463000													67	172					0	0	0.870114	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639448	149639448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:149639448G>A	ENST00000370401.2	+	4	1913	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	MAMLD1_ENST00000455522.2_Missense_Mutation_p.E16K|MAMLD1_ENST00000262858.5_Missense_Mutation_p.E535K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E510K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.E510K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	535					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGCCACGGAGCCATTTAC	0.537000													57	164					0	0	0.870114	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904837	205904837	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:205904837G>A	ENST00000367135.3	-	2	225	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38C|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38C|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	38						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.R38C(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAGGCATTGCGAAGTTTCTCT	0.552000													50	152					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179606186	179606186	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179606186A>T	ENST00000589042.1	-	48	11998	c.11774T>A	c.(11773-11775)gTg>gAg	p.V3925E	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V3608E|TTN_ENST00000359218.5_Missense_Mutation_p.V3687E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3562E|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V3754E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3608							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATTTTGCCACTGCTGATTC	0.433000													82	230					0	0	0.870114	0	0
PTPRC	5788	broad.mit.edu	37	1	198703458	198703458	+	Splice_Site	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:198703458T>C	ENST00000367376.2	+	22	2346	c.2173_splice	c.e22-1	p.G725_splice	PTPRC_ENST00000348564.6_Splice_Site_p.G566_splice|PTPRC_ENST00000352140.3_Splice_Site_p.G677_splice|PTPRC_ENST00000594404.1_Splice_Site_p.G564_splice|PTPRC_ENST00000442510.2_Splice_Site_p.G727_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	725	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCTCCTAGGTCCCAGGGATG	0.338000													15	725					0	0	0.520397	0	0
EP400	57634	broad.mit.edu	37	12	132546772	132546772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:132546772C>T	ENST00000333577.4	+	47	8219	c.8110C>T	c.(8110-8112)Cga>Tga	p.R2704*	EP400_ENST00000389561.2_Nonsense_Mutation_p.R2668*|EP400_ENST00000332482.4_Nonsense_Mutation_p.R2631*|EP400_ENST00000389562.2_Nonsense_Mutation_p.R2667*|EP400_ENST00000330386.6_Nonsense_Mutation_p.R2587*			Q96L91	EP400_HUMAN	E1A binding protein p400	2704	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCAGGGTGTTCGAGCGGTCAC	0.667000													28	109					0	0	0.750413	0	0
PYGB	5834	broad.mit.edu	37	20	25239913	25239913	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:25239913C>T	ENST00000216962.4	+	2	394	c.284C>T	c.(283-285)aCg>aTg	p.T95M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	95					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ATGGGTCGCACGCTGCAGAAC	0.498000													31	102					0	0	0.788014	0	0
SYT1	6857	broad.mit.edu	37	12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000552744.1_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527000													17	53					0	0	0.624587	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													10	97					0	0	0.457914	0	0
DOCK10	55619	broad.mit.edu	37	2	225670158	225670158	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:225670158C>T	ENST00000409592.3	-	35	3998	c.3885G>A	c.(3883-3885)gaG>gaA	p.E1295E	DOCK10_ENST00000258390.7_Silent_p.E1301E			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1301							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACTGCTCTTCTCATTGGTAC	0.423000													16	69					0	0	0.479597	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825682	64825682	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:64825682C>T	ENST00000358658.3	-	2	253	c.226G>A	c.(226-228)Gat>Aat	p.D76N	NAALADL1_ENST00000356632.3_Missense_Mutation_p.D76N|NAALADL1_ENST00000339885.2_Missense_Mutation_p.D76N|NAALADL1_ENST00000340252.4_Missense_Mutation_p.D76N|NAALADL1_ENST00000355369.2_Missense_Mutation_p.D76N|NAALADL1_ENST00000355721.3_Missense_Mutation_p.D76N	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	76					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						AGGTCCTCATCCCGAGGGCTG	0.677000													14	42					0	0	0.500413	0	0
ITGA10	8515	broad.mit.edu	37	1	145535761	145535761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:145535761C>T	ENST00000369304.3	+	16	2124	c.1949C>T	c.(1948-1950)cCa>cTa	p.P650L	ITGA10_ENST00000539363.1_Missense_Mutation_p.P507L|ITGA10_ENST00000538811.1_Missense_Mutation_p.P519L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	650					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCTGACCCCATCACTGGAG	0.562000													7	301					0	0	0.307466	0	0
FAM179B	23116	broad.mit.edu	37	14	45473350	45473350	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:45473350A>T	ENST00000361462.2	+	4	2608	c.2425A>T	c.(2425-2427)Agt>Tgt	p.S809C	FAM179B_ENST00000361577.3_Missense_Mutation_p.S809C|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.S809C			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	809							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCAAAATCCAAGTCCAGGAGC	0.398000													4	89					0	0	0.150653	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439257	110439257	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:110439257G>A	ENST00000378402.5	+	25	2976	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	958					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAGCTGCAGATCTGCAGTT	0.562000										HNSCC(38;0.096)			35	194					0	0	0.812448	0	0
SNX2	6643	broad.mit.edu	37	5	122135441	122135441	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:122135441C>T	ENST00000379516.2	+	3	389	c.281C>T	c.(280-282)tCg>tTg	p.S94L	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_5'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	94					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		ATCCTATCCTCGGAACCTTCT	0.438000													60	233					0	0	0.870114	0	0
KDM4D	55693	broad.mit.edu	37	11	94731017	94731017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:94731017C>T	ENST00000335080.5	+	3	1313	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	KDM4D_ENST00000536741.1_Nonsense_Mutation_p.Q161*	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	161	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGAACAATTCAGGACCTGCT	0.448000													32	93					0	0	0.750413	0	0
AK2	204	broad.mit.edu	37	1	33480136	33480136	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:33480136G>C	ENST00000373449.2	-	5	526	c.485C>G	c.(484-486)cCc>cGc	p.P162R	AK2_ENST00000354858.6_Missense_Mutation_p.P162R|AK2_ENST00000480134.1_Silent_p.A130A|AK2_ENST00000548033.1_Missense_Mutation_p.P120R|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000467905.1_Missense_Mutation_p.P162R	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	162					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCTTTCATGGGCTCTTTTGG	0.413000													70	398					0	0	0.870114	0	0
PAX3	5077	broad.mit.edu	37	2	223163270	223163270	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:223163270C>A	ENST00000350526.4	-	1	201	c.65G>T	c.(64-66)cGt>cTt	p.R22L	CCDC140_ENST00000295226.1_Intron|PAX3_ENST00000344493.4_Missense_Mutation_p.R22L|PAX3_ENST00000409828.3_Missense_Mutation_p.R22L|PAX3_ENST00000409551.3_Missense_Mutation_p.R22L|PAX3_ENST00000336840.6_Missense_Mutation_p.R22L|PAX3_ENST00000392069.2_Missense_Mutation_p.R22L|PAX3_ENST00000258387.5_Missense_Mutation_p.R22L|PAX3_ENST00000392070.2_Missense_Mutation_p.R22L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	22					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAACCCGCTACGCGGGTAGTT	0.701000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						6	18					0.00116845	0.00121668	0.217242	1	0
RBMXL2	27288	broad.mit.edu	37	11	7110534	7110534	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:7110534C>T	ENST00000306904.5	+	1	370	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	61	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCCGCAGACGCCAAGGCCG	0.617000													4	28					0	0	0.150653	0	0
TG	7038	broad.mit.edu	37	8	134042151	134042151	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:134042151C>T	ENST00000220616.4	+	41	7162	c.7122C>T	c.(7120-7122)ggC>ggT	p.G2374G	TG_ENST00000377869.1_Silent_p.G2317G|TG_ENST00000519543.1_Silent_p.G507G|TG_ENST00000542445.1_Silent_p.G744G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2374					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGATTTGGCGGGGACCCTC	0.652000													17	40					0	0	0.654019	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525520	176525520	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:176525520C>T	ENST00000367662.3	+	2	1226	c.62C>T	c.(61-63)tCt>tTt	p.S21F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S21F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	21					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTCTGTTCTGCCAACTCT	0.512000													49	170					0	0	0.870114	0	0
EML4	27436	broad.mit.edu	37	2	42557335	42557335	+	Silent	SNP	G	G	A	rs147316565		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:42557335G>A	ENST00000318522.5	+	23	3196	c.2934G>A	c.(2932-2934)tcG>tcA	p.S978S	EML4_ENST00000402711.2_Silent_p.S920S|EML4_ENST00000401738.3_Silent_p.S989S|EML4_ENST00000453191.2_Silent_p.S242S	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	978			S -> L (in dbSNP:rs28364731).		microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAGACCCTTCGCCCTCGTCCT	0.517000			T	ALK	NSCLC								18	45					0	0	0.520397	0	0
F8	2157	broad.mit.edu	37	X	154194878	154194878	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:154194878T>C	ENST00000360256.4	-	8	1294	c.1094A>G	c.(1093-1095)tAt>tGt	p.Y365C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	365			Y -> C (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Y365C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCATCATCATAGTCTTCCGC	0.423000													40	165					0	0	0.840704	0	0
VWF	7450	broad.mit.edu	37	12	6173440	6173440	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6173440G>A	ENST00000261405.5	-	12	1658	c.1404C>T	c.(1402-1404)ggC>ggT	p.G468G		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	468	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGACGTCCTGGCCATCCATGG	0.632000													17	70					0	0	0.539581	0	0
NELFE	7936	broad.mit.edu	37	6	31922355	31922355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:31922355C>T	ENST00000375429.3	-	7	945	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	NELFE_ENST00000375425.5_Missense_Mutation_p.R247Q|NELFE_ENST00000444811.2_Missense_Mutation_p.R210Q	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		Ctctcggtctcggtctcgatc	0.577000													15	38					0	0	0.500413	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149312	70149312	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:70149312C>T	ENST00000550536.1	+	2	629	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	RAB3IP_ENST00000247833.7_Missense_Mutation_p.R42W|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R42W|RAB3IP_ENST00000483530.2_Missense_Mutation_p.R42W|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R58W|RAB3IP_ENST00000325555.9_5'UTR	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	58					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTCATCTACCGGCCACACCC	0.468000													31	106					0	0	0.812448	0	0
PLCG1	5335	broad.mit.edu	37	20	39792085	39792085	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:39792085G>T	ENST00000373272.2	+	9	1262	c.857G>T	c.(856-858)cGa>cTa	p.R286L	PLCG1_ENST00000244007.3_Missense_Mutation_p.R286L|PLCG1_ENST00000373271.1_Missense_Mutation_p.R286L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	286					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GACCCCTTACGAGAGATCGAG	0.567000													17	61					4.35082e-09	4.68074e-09	0.592651	1	0
AKAP11	11215	broad.mit.edu	37	13	42876731	42876731	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:42876731C>T	ENST00000025301.2	+	8	4024	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1283					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTATGCTTTTCAAGCAAAAGA	0.383000													25	94					0	0	0.667858	0	0
KLF3	51274	broad.mit.edu	37	4	38691484	38691484	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:38691484C>T	ENST00000261438.5	+	4	984	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.Q227*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	227	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GTCCCCCCCGCAAGCATTGTT	0.428000													61	205					0	0	0.870114	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175526	143175526	+	Silent	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:143175526C>A	ENST00000408916.1	+	1	561	c.561C>A	c.(559-561)gtC>gtA	p.V187V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	187					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGAAACTGGTCATCTGGTCAA	0.378000													20	93					5.03518e-11	5.46884e-11	0.557998	1	0
CXorf48	54967	broad.mit.edu	37	X	134305035	134305035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:134305035G>A	ENST00000344129.2	-	1	287	c.61C>T	c.(61-63)Cga>Tga	p.R21*	CXorf48_ENST00000276241.6_Nonsense_Mutation_p.R21*	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GGGCCCTGTCGCTCTGCAGGG	0.642000													45	117					0	0	0.870114	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711947	140711947	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140711947G>A	ENST00000517417.1	+	1	1696	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A566T	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667000													78	201					0	0	0.870114	0	0
NMB	4828	broad.mit.edu	37	15	85201301	85201301	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:85201301C>T	ENST00000394588.3	-	1	493	c.83G>A	c.(82-84)aGc>aAc	p.S28N	NMB_ENST00000360476.3_Missense_Mutation_p.S28N	NM_021077.3|NM_205858.1	NP_066563.2|NP_995580.1	P08949	NMB_HUMAN	neuromedin B	28					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity			endometrium(1)	1				all cancers(203;3.5e-06)		GAGATCCCAGCTGAGCGGGGC	0.726000													9	17					0	0	0.307466	0	0
FAM81B	153643	broad.mit.edu	37	5	94764361	94764361	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:94764361G>A	ENST00000283357.5	+	6	757	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	237										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAGGCAAGAGCACCGGCAAA	0.408000													7	240					0	0	0.248553	0	0
FGD3	89846	broad.mit.edu	37	9	95765216	95765216	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:95765216C>G	ENST00000375482.3	+	4	959	c.463C>G	c.(463-465)Ccc>Gcc	p.P155A	FGD3_ENST00000337352.6_Missense_Mutation_p.P155A|FGD3_ENST00000416701.2_Missense_Mutation_p.P155A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	155					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCACTCTGGCCCCCAGAAGCT	0.617000													44	306					0	0	0.870114	0	0
IPO13	9670	broad.mit.edu	37	1	44422613	44422613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:44422613G>A	ENST00000372343.3	+	5	1898	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	412					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGGATTCTGGTCCTCAGACG	0.507000													34	90					0	0	0.796494	0	0
GABRA5	2558	broad.mit.edu	37	15	27193231	27193231	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:27193231G>A	ENST00000335625.5	+	11	2128	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	GABRA5_ENST00000400081.3_Missense_Mutation_p.E414K|GABRA5_ENST00000355395.5_Missense_Mutation_p.E414K	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	414					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAGACTTCTGAAAGCAAAAA	0.448000													7	18					0	0	0.248553	0	0
ATL3	25923	broad.mit.edu	37	11	63403702	63403702	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:63403702G>A	ENST00000398868.3	-	9	1231	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	ATL3_ENST00000538786.1_Missense_Mutation_p.R301W|ATL3_ENST00000332645.4_Missense_Mutation_p.R346W	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	319					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGTAGTCCCCGACAGGTGACC	0.358000											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	186					0	0	0.870114	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794626	140794626	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140794626C>T	ENST00000398610.2	+	1	1884	c.1884C>T	c.(1882-1884)ggC>ggT	p.G628G	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACACGGGCGAGGTGCGCA	0.697000													28	104					0	0	0.693898	0	0
LHX3	8022	broad.mit.edu	37	9	139090820	139090820	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:139090820G>A	ENST00000371746.3	-	4	673	c.555C>T	c.(553-555)ccC>ccT	p.P185P	LHX3_ENST00000371748.5_Silent_p.P180P	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	180					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCGCCGGCTTGGGCGAGGTGT	0.731000													8	23					0	0	0.335167	0	0
KRT36	8689	broad.mit.edu	37	17	39643670	39643670	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:39643670G>A	ENST00000393986.2	-	6	982	c.770C>T	c.(769-771)aCg>aTg	p.T257M	KRT36_ENST00000328119.6_Missense_Mutation_p.T307M			O76013	KRT36_HUMAN	keratin 36	307	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GATGATCTCCGTCTGGCAGCA	0.612000													3	44					0	0	0.115264	0	0
CMYA5	202333	broad.mit.edu	37	5	79031362	79031362	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:79031362C>T	ENST00000446378.2	+	2	6805	c.6774C>T	c.(6772-6774)gaC>gaT	p.D2258D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2258						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATCTGGTGACGGTCAAAACG	0.338000													29	123					0	0	0.717897	0	0
RGS22	26166	broad.mit.edu	37	8	101020655	101020655	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:101020655A>G	ENST00000360863.6	-	15	2503	c.2309T>C	c.(2308-2310)cTt>cCt	p.L770P	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L758P|RGS22_ENST00000523287.1_Missense_Mutation_p.L589P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	770	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGGCTCAAGAAGGAGGAGAAG	0.378000													6	230					0	0	0.217242	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963606	73963606	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:73963606C>G	ENST00000373468.1	-	3	1437	c.786G>C	c.(784-786)gaG>gaC	p.E262D	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E262D			Q5QGS0	K2022_HUMAN	KIAA2022	262					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E262D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAATAAAAGTCTCGAAGTAAC	0.388000													10	304					0	0	0.361761	0	0
PIK3C3	5289	broad.mit.edu	37	18	39584503	39584503	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:39584503G>A	ENST00000262039.4	+	10	1254	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	PIK3C3_ENST00000398870.3_Missense_Mutation_p.E327K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	390					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGCCGATGATGAGGTGCATTA	0.443000										TSP Lung(28;0.18)			14	39					0	0	0.479597	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886033	88886033	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:88886033C>A	ENST00000319675.3	-	1	263	c.167G>T	c.(166-168)aGg>aTg	p.R56M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	56										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GACCTTTTTCCTCTGCATGCA	0.507000													70	99					1.26778e-28	1.40383e-28	0.870114	1	0
DDX21	9188	broad.mit.edu	37	10	70741337	70741337	+	Splice_Site	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr10:70741337G>A	ENST00000354185.4	+	14	2180	c.2082_splice	c.e14+1	p.Q694_splice		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	694						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGAAATACAGGTATTCTTTT	0.328000													4	130					0	0	0.150653	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166831722	166831722	+	Silent	SNP	G	G	A	rs149521975	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:166831722G>A	ENST00000510118.1	-	21	2344	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	RPS6KA2_ENST00000503859.1_Silent_p.D651D|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Silent_p.D554D|RPS6KA2_ENST00000265678.4_Silent_p.D643D|RPS6KA2_ENST00000481261.2_Silent_p.D554D			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	643	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTTTAGCTGCGTCAGATATCG	0.473000													42	149					0	0	0.840704	0	0
AOC2	314	broad.mit.edu	37	17	40996984	40996984	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:40996984C>T	ENST00000253799.3	+	1	368	c.341C>T	c.(340-342)cCc>cTc	p.P114L	AOC2_ENST00000452774.2_Missense_Mutation_p.P114L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	114					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGGGGAGCCCCCCACCTGCC	0.677000													29	86					0	0	0.750413	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127943	117127943	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:117127943T>C	ENST00000310357.3	-	3	946	c.925A>G	c.(925-927)Acc>Gcc	p.T309A	GPRC6A_ENST00000368549.3_Missense_Mutation_p.T309A|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	309					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTAATCTTGGTGGCAGTTGAC	0.348000													38	130					0	0	0.788014	0	0
CCDC129	223075	broad.mit.edu	37	7	31617732	31617732	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:31617732T>C	ENST00000409210.1	+	6	762	c.578T>C	c.(577-579)gTt>gCt	p.V193A	CCDC129_ENST00000451887.2_Missense_Mutation_p.V311A|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.V285A			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	285										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAAGTTTTTGTTCCCTTTACA	0.438000													15	28					0	0	0.457914	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222262	140222262	+	Silent	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140222262T>C	ENST00000531613.1	+	1	1356	c.1356T>C	c.(1354-1356)gcT>gcC	p.A452A	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A452A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAATGCTCCGGCGTTCG	0.672000													37	101					0	0	0.827153	0	0
BSPRY	54836	broad.mit.edu	37	9	116116596	116116596	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:116116596C>A	ENST00000374183.4	+	2	317	c.278C>A	c.(277-279)cCg>cAg	p.P93Q	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	93					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACGTCCTGCCGGGGAAGAAT	0.522000													14	57					0.000151284	0.000158989	0.435327	1	0
ZNF716	441234	broad.mit.edu	37	7	57528992	57528992	+	Silent	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:57528992C>G	ENST00000420713.1	+	4	937	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAGAACGTGGCAAAGTCTTTA	0.423000													13	39					0	0	0.411799	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324903	103324903	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:103324903G>A	ENST00000233969.2	+	12	2536	c.2394G>A	c.(2392-2394)tcG>tcA	p.S798S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	798						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GGAGGGCATCGGAACCTGGAA	0.567000													42	97					0	0	0.870114	0	0
ZNF319	57567	broad.mit.edu	37	16	58031444	58031444	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:58031444C>T	ENST00000299237.2	-	2	1348	c.726G>A	c.(724-726)tcG>tcA	p.S242S		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CCAGGTGCGACGACTGGCTGA	0.617000													43	155					0	0	0.847076	0	0
SEC24B	10427	broad.mit.edu	37	4	110433145	110433145	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:110433145G>A	ENST00000265175.5	+	9	1864	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	SEC24B_ENST00000399100.2_Silent_p.V568V|SEC24B_ENST00000504968.2_Silent_p.V633V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	603					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATACCATTGTGAGGTGCCGAT	0.388000													40	109					0	0	0.840704	0	0
GEMIN5	25929	broad.mit.edu	37	5	154305443	154305443	+	Silent	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:154305443G>T	ENST00000285873.7	-	8	1347	c.1272C>A	c.(1270-1272)ggC>ggA	p.G424G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	424					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGACTTCACGCCTTGCCAAA	0.373000													25	101					1.64293e-13	1.79301e-13	0.654019	1	0
SH2D1A	4068	broad.mit.edu	37	X	123480565	123480565	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:123480565C>A	ENST00000371139.4	+	1	372	c.73C>A	c.(73-75)Ctg>Atg	p.L25M	SH2D1A_ENST00000360027.4_Missense_Mutation_p.L25M|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	25	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGCCACTGGGCTGGATGGCAG	0.597000													19	97					2.4624e-09	2.66173e-09	0.575678	1	0
SERINC3	10955	broad.mit.edu	37	20	43133498	43133498	+	Missense_Mutation	SNP	G	G	A	rs149223322		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:43133498G>A	ENST00000342374.4	-	7	975	c.818C>T	c.(817-819)tCc>tTc	p.S273F	SERINC3_ENST00000255175.1_Missense_Mutation_p.S273F|SERINC3_ENST00000541235.1_Missense_Mutation_p.S218F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	273						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGTGATGAGGGAGGACTGCAA	0.478000													14	57					0	0	0.457914	0	0
C16orf71	146562	broad.mit.edu	37	16	4787863	4787863	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:4787863C>A	ENST00000299320.5	+	3	670	c.192C>A	c.(190-192)gaC>gaA	p.D64E	C16orf71_ENST00000590191.1_Missense_Mutation_p.D64E|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	64										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGATTCCAGACCTGTCGGAGG	0.577000													29	98					2.36697e-06	2.52255e-06	0.717897	1	0
KCNH2	3757	broad.mit.edu	37	7	150647097	150647097	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr7:150647097C>T	ENST00000430723.3	-	9	2569	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000262186.5_Intron	NM_172056.2	NP_742053.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	0					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTCTCCATGGCCCCGCTTGGA	0.577000													5	6					0	0	0.184627	0	0
FSTL1	11167	broad.mit.edu	37	3	120128487	120128487	+	Silent	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:120128487A>G	ENST00000295633.3	-	6	710	c.354T>C	c.(352-354)cgT>cgC	p.R118R	FSTL1_ENST00000424703.2_Silent_p.R83R	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	118					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GGAGCTCATCACGGTTGGACT	0.532000													3	107					0	0	0.150653	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			37	77					0	0	0.819951	0	0
KCNA1	3736	broad.mit.edu	37	12	5021875	5021875	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:5021875G>A	ENST00000382545.3	+	2	2438	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	444					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.R444H(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCAGTCGCCGCAGTTCCTCT	0.468000													80	320					0	0	0.870114	0	0
MYH8	4626	broad.mit.edu	37	17	10304723	10304723	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:10304723C>A	ENST00000403437.2	-	24	3071	c.2977G>T	c.(2977-2979)Gca>Tca	p.A993S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	993					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACAGTTTTGCAATGGTTTCA	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				62	219					7.41606e-26	8.17206e-26	0.870114	1	0
RASIP1	54922	broad.mit.edu	37	19	49238477	49238477	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:49238477C>T	ENST00000222145.4	-	4	1359	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	385					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGCCCTGGAGCAGCAGGAAGT	0.637000													7	30					0	0	0.387290	0	0
FBXO3	26273	broad.mit.edu	37	11	33768826	33768826	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:33768826G>A	ENST00000530401.1	-	10	1094	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	FBXO3_ENST00000448981.2_Silent_p.Y363Y|FBXO3_ENST00000532057.1_Silent_p.Y50Y|FBXO3_ENST00000526785.1_Silent_p.Y250Y|FBXO3_ENST00000531080.1_Silent_p.Y50Y|FBXO3_ENST00000534136.1_Silent_p.Y363Y|FBXO3_ENST00000265651.3_Silent_p.Y363Y			Q9UK99	FBX3_HUMAN	F-box protein 3	363	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TACAGCTTGTGTATTCATATA	0.333000													4	127					0	0	0.150653	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357068	38357068	+	Silent	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:38357068C>G	ENST00000273173.4	+	8	1489	c.1398C>G	c.(1396-1398)ctC>ctG	p.L466L	SLC22A14_ENST00000448498.1_Silent_p.L466L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	466			L -> P (in dbSNP:rs34256819).			integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCCTCAGACTCAAGTGGCCAC	0.592000													6	89					0	0	0.217242	0	0
ZNF445	353274	broad.mit.edu	37	3	44491047	44491047	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:44491047G>C	ENST00000425708.2	-	6	1230	c.889C>G	c.(889-891)Cag>Gag	p.Q297E	ZNF445_ENST00000396077.2_Missense_Mutation_p.Q297E			P59923	ZN445_HUMAN	zinc finger protein 445	297	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGAGCTGCCTGCATGTTCAGG	0.532000													3	89					0	0	0.115264	0	0
EDEM3	80267	broad.mit.edu	37	1	184688698	184688698	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:184688698T>C	ENST00000318130.8	-	10	1222	c.956A>G	c.(955-957)tAt>tGt	p.Y319C	EDEM3_ENST00000367512.3_Missense_Mutation_p.Y276C	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	319				HY -> VS (in Ref. 4; AAI05587).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGGCATCATAGTGCTAAAA	0.363000													17	78					0	0	0.592651	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939120	6939120	+	RNA	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6939120G>A	ENST00000251761.8	+	0	629				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						AAGTACAGACGAATGTCGGGA	0.592000													40	149					0	0	0.853193	0	0
FCHO1	23149	broad.mit.edu	37	19	17888953	17888953	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:17888953G>A	ENST00000594202.1	+	19	1546	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	FCHO1_ENST00000597512.1_Missense_Mutation_p.E430K|FCHO1_ENST00000596536.1_Missense_Mutation_p.E423K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E423K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E423K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E423K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E423K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E423K|FCHO1_ENST00000595033.1_Missense_Mutation_p.E373K	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	423										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TAGCTGTGCAGAGAGATTGCA	0.537000													3	95					0	0	0.115264	0	0
TBX15	6913	broad.mit.edu	37	1	119456776	119456776	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:119456776G>C	ENST00000369429.3	-	6	897	c.888C>G	c.(886-888)aaC>aaG	p.N296K	TBX15_ENST00000207157.3_Missense_Mutation_p.N190K			Q96SF7	TBX15_HUMAN	T-box 15	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TAGCAAAAGGGTTTCGGTCAA	0.353000													13	88					0	0	0.500413	0	0
FAT3	120114	broad.mit.edu	37	11	92534195	92534195	+	Silent	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:92534195A>G	ENST00000298047.6	+	9	8033	c.8016A>G	c.(8014-8016)acA>acG	p.T2672T	FAT3_ENST00000409404.2_Silent_p.T2672T|FAT3_ENST00000525166.1_Silent_p.T2522T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2672	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAAAATACAGTGCTTTCGT	0.483000										TCGA Ovarian(4;0.039)			6	43					0	0	0.217242	0	0
ZNF506	440515	broad.mit.edu	37	19	19905666	19905666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:19905666C>T	ENST00000443905.2	-	4	1177	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.D344N|ZNF506_ENST00000450683.2_Missense_Mutation_p.D312N			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CCACATTCGTCACATTTGTAG	0.413000													5	174					0	0	0.184627	0	0
TMEM30B	161291	broad.mit.edu	37	14	61746909	61746909	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:61746909G>A	ENST00000555868.1	-	1	1649	c.957C>T	c.(955-957)atC>atT	p.I319I	TMEM30B_ENST00000355702.2_Silent_p.I319I|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	319						integral to membrane				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CCAGGTAGGCGATGCCCAGGA	0.602000													10	42					0	0	0.361761	0	0
DLG2	1740	broad.mit.edu	37	11	84245683	84245683	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:84245683G>A	ENST00000398309.2	-	2	604	c.134C>T	c.(133-135)tCa>tTa	p.S45L	DLG2_ENST00000543673.1_Missense_Mutation_p.S150L|DLG2_ENST00000376104.2_Missense_Mutation_p.S150L|DLG2_ENST00000532653.1_Missense_Mutation_p.S45L|DLG2_ENST00000524982.1_Missense_Mutation_p.S45L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	45						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTTCTTTTCTGATACATGCAC	0.418000													44	245					0	0	0.834066	0	0
EPX	8288	broad.mit.edu	37	17	56274611	56274611	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:56274611C>T	ENST00000225371.5	+	7	1223	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	371					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCCCCTGCTTCCTGGCAGGTC	0.617000													28	75					0	0	0.717897	0	0
ASIC2	40	broad.mit.edu	37	17	31415907	31415907	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:31415907T>C	ENST00000225823.2	-	3	1833	c.961A>G	c.(961-963)Acc>Gcc	p.T321A	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Missense_Mutation_p.T270A	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	270					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCACAAAGGTCTGGAACCCT	0.572000													13	33					0	0	0.435327	0	0
ATM	472	broad.mit.edu	37	11	108143452	108143452	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:108143452G>A	ENST00000278616.4	+	22	3542	c.3157G>A	c.(3157-3159)Gat>Aat	p.D1053N	ATM_ENST00000452508.2_Missense_Mutation_p.D1053N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1053					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCCGTAGGCTGATCCTTATTC	0.318000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			21	78					0	0	0.654019	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657105	81657105	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:81657105T>C	ENST00000550584.2	-	30	3915	c.3620A>G	c.(3619-3621)cAt>cGt	p.H1207R	PPFIA2_ENST00000549396.1_Missense_Mutation_p.H1207R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.H743R|PPFIA2_ENST00000549325.1_Missense_Mutation_p.H1192R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.H1054R|PPFIA2_ENST00000548586.1_Missense_Mutation_p.H1201R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.H1195R|PPFIA2_ENST00000552948.1_Missense_Mutation_p.H1186R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.H393R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.H1102R|PPFIA2_ENST00000407050.4_Missense_Mutation_p.H1106R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1106										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTGATTCCATGTACTTCACG	0.443000													33	56					0	0	0.779181	0	0
C16orf72	29035	broad.mit.edu	37	16	9210684	9210684	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:9210684A>G	ENST00000327827.7	+	4	1140	c.743A>G	c.(742-744)aAt>aGt	p.N248S		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	248										endometrium(4)|large_intestine(2)|lung(2)	8						CACTTGGACAATGGTGGAACT	0.438000													41	139					0	0	0.827153	0	0
CFI	3426	broad.mit.edu	37	4	110667591	110667591	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:110667591G>A	ENST00000394634.2	-	11	1423	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	CFI_ENST00000512148.1_Missense_Mutation_p.R399C|CFI_ENST00000394635.3_Missense_Mutation_p.R414C	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	406	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		ATTACTATACGTTTAAGGTCG	0.333000													22	72					0	0	0.608945	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	532707	532707	+	Silent	SNP	C	C	T	rs139755055	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr16:532707C>T	ENST00000262305.4	+	4	1474	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	RAB11FIP3_ENST00000457159.1_Silent_p.D362D|RAB11FIP3_ENST00000450428.1_Silent_p.D66D	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	362					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGGAGCCCGACCATGGTGCCC	0.687000													6	16					0	0	0.217242	0	0
ZNF41	7592	broad.mit.edu	37	X	47308010	47308010	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chrX:47308010C>G	ENST00000377065.4	-	5	1798	c.1159G>C	c.(1159-1161)Gaa>Caa	p.E387Q	ZNF41_ENST00000397050.2_Missense_Mutation_p.E397Q|ZNF41_ENST00000313116.7_Missense_Mutation_p.E387Q	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	429						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCACATTCACTGCATTCA	0.408000													35	147					0	0	0.779181	0	0
WASF3	10810	broad.mit.edu	37	13	27216530	27216530	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr13:27216530G>A	ENST00000361042.4	+	3	348	c.123G>A	c.(121-123)ctG>ctA	p.L41L	WASF3_ENST00000335327.5_Silent_p.L41L|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	41					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TACGCCAGCTGAGCAGTCTGA	0.418000													7	217					0	0	0.278610	0	0
UGT3A2	167127	broad.mit.edu	37	5	36037913	36037913	+	Silent	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:36037913G>T	ENST00000282507.3	-	6	1382	c.1281C>A	c.(1279-1281)atC>atA	p.I427I	UGT3A2_ENST00000545528.1_Silent_p.I125I|UGT3A2_ENST00000513300.1_Silent_p.I393I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	427						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTCTTCCATGATTTGTTTCA	0.413000													61	239					2.02796e-37	2.26772e-37	0.870114	1	0
ZBTB40	9923	broad.mit.edu	37	1	22837770	22837770	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:22837770C>T	ENST00000404138.1	+	11	2443	c.1932C>T	c.(1930-1932)tgC>tgT	p.C644C	ZBTB40_ENST00000374651.4_Silent_p.C532C|ZBTB40_ENST00000375647.4_Silent_p.C644C	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	644					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TTGAAATATGCCACCTCCTGT	0.542000													4	130					0	0	0.150653	0	0
TXNL1	9352	broad.mit.edu	37	18	54291640	54291640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:54291640C>T	ENST00000217515.6	-	3	452	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	TXNL1_ENST00000590954.1_Missense_Mutation_p.R83Q|TXNL1_ENST00000540155.1_5'UTR	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	83	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CACTTTGTTTCGAAAAAACAA	0.378000													60	163					0	0	0.870114	0	0
PFAS	5198	broad.mit.edu	37	17	8167250	8167250	+	Missense_Mutation	SNP	G	G	A	rs142452570	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:8167250G>A	ENST00000314666.6	+	15	1920	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.R172Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	596					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTGGAGACCGGAGAGTGAGT	0.597000													39	118					0	0	0.840704	0	0
NSMF	26012	broad.mit.edu	37	9	140351900	140351900	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:140351900C>T	ENST00000371475.3	-	3	818	c.587G>A	c.(586-588)cGc>cAc	p.R196H	NSMF_ENST00000371473.3_Missense_Mutation_p.R196H|NSMF_ENST00000437259.1_Missense_Mutation_p.R196H|NSMF_ENST00000392812.4_Missense_Mutation_p.R196H|NSMF_ENST00000339554.3_5'UTR|NSMF_ENST00000371472.2_Missense_Mutation_p.R196H|NSMF_ENST00000371474.3_Missense_Mutation_p.R196H|NSMF_ENST00000265663.7_Missense_Mutation_p.R196H	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		CAGCTTCTTGCGGCGACCGGA	0.652000													4	54					0	0	0.150653	0	0
CNTN6	27255	broad.mit.edu	37	3	1427421	1427421	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:1427421T>C	ENST00000446702.2	+	20	3271	c.2644T>C	c.(2644-2646)Tac>Cac	p.Y882H	CNTN6_ENST00000539053.1_Missense_Mutation_p.Y810H|CNTN6_ENST00000350110.2_Missense_Mutation_p.Y882H			Q9UQ52	CNTN6_HUMAN	contactin 6	882	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CGTAAGAGCTTACAACACTGC	0.443000													69	200					0	0	0.870114	0	0
PAMR1	25891	broad.mit.edu	37	11	35513609	35513609	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:35513609G>A	ENST00000378880.2	-	3	808	c.363C>T	c.(361-363)taC>taT	p.Y121Y	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Silent_p.Y121Y|PAMR1_ENST00000278360.3_Silent_p.Y121Y|PAMR1_ENST00000532848.1_Silent_p.Y81Y	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	121					proteolysis	extracellular region	serine-type endopeptidase activity	p.Y121Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTCTCCTCCGTACCAGCCTG	0.493000													57	191					0	0	0.870114	0	0
CDH12	1010	broad.mit.edu	37	5	21760760	21760760	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:21760760C>T	ENST00000382254.1	-	13	2626	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	CDH12_ENST00000504376.2_Missense_Mutation_p.D514N|CDH12_ENST00000522262.1_Missense_Mutation_p.D474N|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	514	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGATCTCGGTCTGCAGCACTG	0.403000										HNSCC(59;0.17)			62	180					0	0	0.870114	0	0
CD52	1043	broad.mit.edu	37	1	26644515	26644515	+	Missense_Mutation	SNP	C	C	T	rs141117966	byFrequency	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:26644515C>T	ENST00000374213.2	+	1	68	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	UBXN11_ENST00000374222.1_Intron|UBXN11_ENST00000374217.2_Intron|CD52_ENST00000492808.1_3'UTR	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	3					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CAAAATGAAGCGCTTCCTCTT	0.512000													41	109					0	0	0.870114	0	0
DSC1	1823	broad.mit.edu	37	18	28728468	28728468	+	Silent	SNP	G	G	A	rs138689452		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:28728468G>A	ENST00000257197.3	-	6	1026	c.765C>T	c.(763-765)tgC>tgT	p.C255C	DSC1_ENST00000257198.5_Silent_p.C255C|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	255	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACCGGATCGGCAATTTTCAG	0.328000													5	206					0	0	0.217242	0	0
WIPI1	55062	broad.mit.edu	37	17	66426234	66426234	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:66426234G>T	ENST00000262139.5	-	9	867	c.868C>A	c.(868-870)Ctc>Atc	p.L290I	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.L208I	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	290					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGGGTAGGGAGGTAGTTGGTA	0.527000													26	90					3.17567e-06	3.36858e-06	0.729181	1	0
NPAS4	266743	broad.mit.edu	37	11	66190251	66190251	+	Silent	SNP	A	A	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:66190251A>T	ENST00000311034.2	+	4	713	c.537A>T	c.(535-537)ggA>ggT	p.G179G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	179					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACCCACCTGGAGCCTACTGGG	0.632000													44	181					0	0	0.847076	0	0
SCN4A	6329	broad.mit.edu	37	17	62018859	62018859	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:62018859C>T	ENST00000435607.1	-	24	4859	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1595T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1595					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGATGATGGCGATGTACATG	0.517000													22	70					0	0	0.624587	0	0
MAS1L	116511	broad.mit.edu	37	6	29454873	29454873	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:29454873C>T	ENST00000377127.3	-	1	865	c.807G>A	c.(805-807)tcG>tcA	p.S269S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	269						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ACATGGGGGCCGAGATCTGCA	0.517000													18	60					0	0	0.592651	0	0
MAML3	55534	broad.mit.edu	37	4	140810676	140810676	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr4:140810676C>T	ENST00000509479.2	-	2	2770	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	MAML3_ENST00000398940.1_Silent_p.Q166Q|MAML3_ENST00000327122.5_Silent_p.Q482Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	634	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgttgctgctgctgttgct	0.592000													18	42					0	0	0.667858	0	0
OR5A2	219981	broad.mit.edu	37	11	59189802	59189802	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr11:59189802T>C	ENST00000302040.4	-	1	647	c.625A>G	c.(625-627)Ata>Gta	p.I209V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACAGACACTATTCCAACGACA	0.498000													14	75					0	0	0.500413	0	0
DAXX	1616	broad.mit.edu	37	6	33288742	33288742	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:33288742G>A	ENST00000374542.5	-	3	1014	c.810C>T	c.(808-810)cgC>cgT	p.R270R	DAXX_ENST00000266000.6_Silent_p.R270R|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.R195R	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	270					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCCGCTCAATGCGCCTGTTAA	0.597000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								51	121					0	0	0.870114	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53927532	53927532	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:53927532C>G	ENST00000263634.3	-	8	1248	c.1114G>C	c.(1114-1116)Gga>Cga	p.G372R	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.G299R|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.G410R|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.G299R|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.G407R	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		407					intracellular signal transduction												TTCCATGGTCCCAATGAGCAA	0.388000													26	121					0	0	0.667858	0	0
GNB3	2784	broad.mit.edu	37	12	6952179	6952179	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6952179C>T	ENST00000229264.3	+	5	547	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GNB3_ENST00000435982.2_Missense_Mutation_p.R48W	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	48					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GATGCGGACGCGGCGGACGTT	0.597000													5	72					0	0	0.184627	0	0
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	RNA	SNP	G	G	A	rs7635172	by1000genomes	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395																											CAAACTCGCTGTTGGACCTGG	0.597000													4	34					0	0	0.335167	0	0
NFATC2	4773	broad.mit.edu	37	20	50139752	50139752	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:50139752C>T	ENST00000371564.3	-	2	1247	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	NFATC2_ENST00000396009.3_Missense_Mutation_p.R343H|NFATC2_ENST00000414705.1_Missense_Mutation_p.R323H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	343					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTAGATGTGGCGAGGCAGGCC	0.682000													6	149					0	0	0.248553	0	0
LOXL3	84695	broad.mit.edu	37	2	74777400	74777400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:74777400C>T	ENST00000264094.3	-	3	460	c.389G>A	c.(388-390)gGg>gAg	p.G130E	LOXL3_ENST00000393937.2_Missense_Mutation_p.G130E|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G130E|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409986.1_Missense_Mutation_p.G130E|LOXL3_ENST00000409249.1_Missense_Mutation_p.G130E	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	130	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GTCACTGTTCCCCCAGCCCCG	0.587000													8	148					0	0	0.278610	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	9					0	0	0.307466	0	0
DCC	1630	broad.mit.edu	37	18	50923746	50923746	+	Silent	SNP	G	G	A	rs144874430		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr18:50923746G>A	ENST00000442544.2	+	18	3373	c.2757G>A	c.(2755-2757)tcG>tcA	p.S919S	DCC_ENST00000412726.1_Silent_p.S747S|DCC_ENST00000581580.1_Silent_p.S554S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	919	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S919S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGAATTCTCGGTCATGGTAA	0.413000													3	86					0	0	0.115264	0	0
BICD1	636	broad.mit.edu	37	12	32446959	32446959	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:32446959G>A	ENST00000548411.1	+	3	639	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	BICD1_ENST00000281474.5_Missense_Mutation_p.R153Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	153					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CAGAGAATACGGATGAAGGAT	0.388000													3	56					0	0	0.184627	0	0
ZNF134	7693	broad.mit.edu	37	19	58132398	58132398	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:58132398T>A	ENST00000396161.5	+	3	1221	c.911T>A	c.(910-912)gTt>gAt	p.V304D		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCTACACTTGTTCAGCATGAG	0.408000													57	211					0	0	0.870114	0	0
TUBG1	7283	broad.mit.edu	37	17	40765019	40765019	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:40765019G>A	ENST00000251413.3	+	6	596	c.534G>A	c.(532-534)atG>atA	p.M178I		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	178					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AGGACGAGATGAGCGATGTGG	0.542000													53	138					0	0	0.870114	0	0
PCDH12	51294	broad.mit.edu	37	5	141336333	141336333	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:141336333G>A	ENST00000231484.3	-	1	2294	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	362	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGACACCAGTGATGGCTGG	0.502000													46	169					0	0	0.870114	0	0
LYST	1130	broad.mit.edu	37	1	235915445	235915445	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:235915445A>G	ENST00000389794.3	-	27	7661	c.7487T>C	c.(7486-7488)cTt>cCt	p.L2496P	LYST_ENST00000389793.2_Missense_Mutation_p.L2496P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2496					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCACAAGCAAGCAATTTATA	0.313000													24	69					0	0	0.654019	0	0
TTN	7273	broad.mit.edu	37	2	179594257	179594257	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179594257T>A	ENST00000589042.1	-	64	18850	c.18626A>T	c.(18625-18627)gAg>gTg	p.E6209V	TTN_ENST00000342992.6_Missense_Mutation_p.E4965V|TTN_ENST00000591111.1_Missense_Mutation_p.E5892V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5892	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTACTACCTCCACAGGCTT	0.468000													34	120					0	0	0.769981	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106962995	106962995	+	RNA	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:106962995C>T	ENST00000390621.2	-	0	344																											GTAGGCTGTGCTCATAGACCT	0.502000													71	205					0	0	0.870114	0	0
MCTP1	79772	broad.mit.edu	37	5	94204039	94204039	+	Splice_Site	SNP	A	A	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:94204039A>G	ENST00000515393.1	-	17	2434	c.2436_splice	c.e17+1	p.V812_splice	MCTP1_ENST00000505208.1_Splice_Site_p.V591_splice|MCTP1_ENST00000312216.8_Splice_Site_p.V591_splice|MCTP1_ENST00000429576.2_Splice_Site_p.V545_splice|MCTP1_ENST00000505078.1_Splice_Site_p.V328_splice	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	812					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGATCATACCACAAAAGCAGC	0.383000													12	47					0	0	0.411799	0	0
GATM	2628	broad.mit.edu	37	15	45658345	45658345	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:45658345T>C	ENST00000396659.3	-	6	1216	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	GATM_ENST00000558336.1_Missense_Mutation_p.I293V	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	293					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AAGGAGATGATATGCACTCTG	0.418000													34	92					0	0	0.788014	0	0
DHX34	9704	broad.mit.edu	37	19	47856739	47856739	+	Missense_Mutation	SNP	G	G	A	rs149967464	by1000genomes	TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:47856739G>A	ENST00000328771.4	+	2	801	c.452G>A	c.(451-453)cGt>cAt	p.R151H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	151						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCATTTGGGCGTCTGGCCAAG	0.647000													35	65					0	0	0.779181	0	0
WNT9B	7484	broad.mit.edu	37	17	44949908	44949908	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr17:44949908C>G	ENST00000393461.2	+	2	156	c.103C>G	c.(103-105)Ccc>Gcc	p.P35A	WNT9B_ENST00000290015.2_Missense_Mutation_p.P35A			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	35					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGTCCTGACGCCCTTCCCAGG	0.667000													51	202					0	0	0.870114	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579470	140579470	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140579470C>T	ENST00000354757.3	+	1	123	c.123C>T	c.(121-123)agC>agT	p.S41S	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		41	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGCAGAGCGGGAGTTTTG	0.522000													36	123					0	0	0.779181	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26888041	26888041	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr1:26888041C>T	ENST00000374168.2	+	17	1631	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R401W|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R477W|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R401W|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R502W|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R482W	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	493	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGAGCTGATGCGGGGTGGGGA	0.572000													8	211					0	0	0.278610	0	0
DDR1	780	broad.mit.edu	37	6	30865889	30865889	+	Silent	SNP	C	C	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:30865889C>T	ENST00000324771.8	+	18	2804	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	DDR1_ENST00000376570.4_Silent_p.S715S|DDR1_ENST00000454612.2_Silent_p.S715S|DDR1_ENST00000376567.2_Silent_p.S715S|DDR1_ENST00000376569.3_Silent_p.S715S|DDR1_ENST00000452441.1_Silent_p.S752S|DDR1_ENST00000418800.2_Silent_p.S715S|DDR1_ENST00000513240.1_Silent_p.S758S|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Silent_p.S419S|DDR1_ENST00000376575.3_Silent_p.S758S|DDR1_ENST00000508312.1_Silent_p.S733S|DDR1_ENST00000376568.3_Silent_p.S752S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	752	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGATCGCCTCCGGCATGCGCT	0.562000													6	47					0	0	0.248553	0	0
TG	7038	broad.mit.edu	37	8	134144071	134144071	+	Silent	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:134144071G>A	ENST00000220616.4	+	46	7918	c.7878G>A	c.(7876-7878)gcG>gcA	p.A2626A	TG_ENST00000377869.1_Silent_p.A2569A|TG_ENST00000519543.1_Silent_p.A759A|TG_ENST00000542445.1_Silent_p.A996A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2626					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTGGCGGATGTTCAGT	0.458000													29	95					0	0	0.740014	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140743969	140743969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140743969C>A	ENST00000518069.1	+	1	72	c.72C>A	c.(70-72)tgC>tgA	p.C24*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCTGTGCGAGCCAGGAT	0.627000													13	43					2.27111e-07	2.4318e-07	0.411799	1	0
CD27	939	broad.mit.edu	37	12	6554350	6554350	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:6554350G>A	ENST00000266557.3	+	1	318	c.89G>A	c.(88-90)aGg>aAg	p.R30K	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	30					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGCCCAGAGAGGCACTACTGG	0.637000													11	35					0	0	0.387290	0	0
LINC00152	112597	broad.mit.edu	37	2	87865566	87865572	+	RNA	DEL	GACCCAC	GACCCAC	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:87865566_87865572delGACCCAC	ENST00000409054.1	+	0	278					NR_015395.1																						CAGTTACCATGACCCACGAGGGTCATG	0.459													10	144	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179612040	179612040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr2:179612040delG	ENST00000360870.5	-	46	15309	c.15087delC	c.(15085-15087)tcfs	p.S5029fs	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1133	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAAAGGTGTGGAATATCTTT	0.408													45	123	---	---	---	---					
CADPS	8618	broad.mit.edu	37	3	62860609	62860610	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:62860609_62860610delGC	ENST00000383710.4	-	1	444_445	c.95_96delGC	c.(94-96)cfs	p.R32fs	CADPS_ENST00000490353.2_Frame_Shift_Del_p.R32fs|CADPS_ENST00000357948.3_Frame_Shift_Del_p.R32fs|CADPS_ENST00000283269.9_Frame_Shift_Del_p.R32fs	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	32					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGGGAGACAGGCGCGCGCCGGA	0.757													7	10	---	---	---	---					
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													4	5	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	89947506	89947507	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:89947506_89947507insA	ENST00000405460.2	+	18	3471_3472	c.3375_3376insA	c.(3373-3378)cctagafs	p.R1126fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1126					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTGGAGCCCATAGACAAAGC	0.342													10	42	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127599146	127599147	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:127599146_127599147insC	ENST00000508053.1	-	69	9136_9137	c.8162_8163insG	c.(8161-8163)tccfs	p.S2721fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.S2721fs			P35556	FBN2_HUMAN	fibrillin 2	2721	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCCAGGGGGGCAGCCACAGAG	0.584													14	271	---	---	---	---					
SLC25A2	83884	broad.mit.edu	37	5	140682600	140682610	+	Frame_Shift_Del	DEL	GGGATTGCTCG	GGGATTGCTCG	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr5:140682600_140682610delGGGATTGCTCG	ENST00000239451.4	-	1	1002_1012	c.823_833delCGAGCAATCCC	c.(823-834)tfs	p.RAIP275fs		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	275					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATTGGCAGGGATTGCTCGAATCATAGTA	0.441													12	47	---	---	---	---					
CTGF	1490	broad.mit.edu	37	6	132270566	132270567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr6:132270566_132270567insT	ENST00000367976.3	-	5	1087_1088	c.887_888insA	c.(886-888)cagfs	p.Q296fs		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	296	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TGGTGGTTCTGTGGGGGGTGCA	0.530													64	287	---	---	---	---					
RIMS2	9699	broad.mit.edu	37	8	105160892	105160892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:105160892delA	ENST00000436393.2	+	23	3445	c.3204delA	c.(3202-3204)acfs	p.T1068fs	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	497					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAACATGACAAAAAGCACCA	0.468										HNSCC(12;0.0054)			16	70	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142469201	142469202	+	RNA	INS	-	-	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr8:142469201_142469202insC	ENST00000430863.1	-	0	2558					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CTCCTAAAGAGCCCGAACAGCT	0.485													9	50	---	---	---	---					
TTLL11	158135	broad.mit.edu	37	9	124855330	124855331	+	In_Frame_Ins	INS	-	-	TGGCCT	rs3833704		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr9:124855330_124855331insTGGCCT	ENST00000321582.5	-	1	554_555	c.367_368insAGGCCA	c.(367-369)agc>AGGCCAagc	p.122_123insRP	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_In_Frame_Ins_p.122_123insRP	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	122					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						cgtctccgctgtggcctcggcc	0.762													5	3	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52913851	52913852	+	Frame_Shift_Ins	INS	-	-	ATCAA			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:52913851_52913852insATCAA	ENST00000252242.4	-	1	619_620	c.229_230insTTGAT	c.(229-231)cacfs	p.H77fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	77	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCACTAGTGCTGATGGATATC	0.614													28	166	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52913991	52913992	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:52913991_52913992insGT	ENST00000252242.4	-	1	479_480	c.89_90insAC	c.(88-90)aagfs	p.K30fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	30	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGAAGCTGGTGCGGGAGAC	0.663													17	66	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)gctfs	p.A88fs	B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													7	251	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57442685	57442688	+	RNA	DEL	CCTT	CCTT	-	rs35764259		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:57442685_57442688delCCTT	ENST00000554725.1	+	0	344																											ATGTATTTAGccttccttccttcc	0.319													4	5	---	---	---	---					
ZC2HC1C	79696	broad.mit.edu	37	14	75538105	75538105	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr14:75538105delA	ENST00000524913.1	+	2	1318	c.829delA	c.(829-831)aafs	p.K277fs	ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Frame_Shift_Del_p.K277fs	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	0																	TAAAGGTAATAAAAGCAACAC	0.433													24	81	---	---	---	---					
SNRPN	6638	broad.mit.edu	37	15	25222159	25222159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr15:25222159delG	ENST00000444203.2	+	5	1454	c.415delG	c.(415-417)ggfs	p.G140fs	SNRPN_ENST00000346403.6_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.G140fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.G136fs|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.G136fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.G136fs			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	136					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCGAGGAGTTGGGGGACCATC	0.557									Prader-Willi syndrome				21	89	---	---	---	---					
ZNF579	163033	broad.mit.edu	37	19	56089543	56089543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr19:56089543delG	ENST00000325421.4	-	2	1491	c.1463delC	c.(1462-1464)cgfs	p.P490fs		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	490	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CAGGggcggcgggggcggtgg	0.746													2	4	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													4	7	---	---	---	---					
LOC284865	284865	broad.mit.edu	37	22	20188920	20188931	+	RNA	DEL	CCTTCCTTCCTT	CCTTCCTTCCTT	-	rs71987686		TCGA-CN-5373-01A-01D-1434-08	TCGA-CN-5373-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00988676-1e9b-4e00-b4aa-a8f86c21b206	9937f05c-99cc-491d-88cf-7483e30546ed	g.chr22:20188920_20188931delCCTTCCTTCCTT	ENST00000506039.1	-	0	433					NR_038460.1																						ccctccctacccttccttccttccttccttcc	0.505													2	4	---	---	---	---