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
LTBP2	4053	broad.mit.edu	37	14	74974742	74974742	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr14:74974742C>T	ENST00000261978.4	-	25	4095	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E1237K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1237	Cys-rich.|EGF-like 13; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AAGGAGCCCTCGGTGTTGACA	0.612000													12	28					0	0	0.001855	0	0
ZNF91	7644	broad.mit.edu	37	19	23544447	23544447	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr19:23544447C>A	ENST00000300619.7	-	4	1539	c.1334G>T	c.(1333-1335)tGg>tTg	p.W445L	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.W413L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	445						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCTTGAGGACCAGTTAAATGC	0.343000													11	41					0.000151284	0.000161938	0.001855	1	0
ANKRD44	91526	broad.mit.edu	37	2	197943465	197943465	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:197943465A>G	ENST00000328737.2	-	16	1613	c.1537T>C	c.(1537-1539)Tat>Cat	p.Y513H	ANKRD44_ENST00000450567.1_Missense_Mutation_p.Y513H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.Y538H|ANKRD44_ENST00000337207.5_Missense_Mutation_p.Y513H|ANKRD44_ENST00000282272.8_Missense_Mutation_p.Y530H|ANKRD44_ENST00000539527.1_Missense_Mutation_p.Y466H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	538							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCGGCAGCATAATGTATGCTA	0.408000													22	31					0	0	0.012319	0	0
PCDH15	65217	broad.mit.edu	37	10	55582689	55582689	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr10:55582689C>A	ENST00000361849.3	-	34	5197	c.4803G>T	c.(4801-4803)caG>caT	p.Q1601H	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q1530H|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q1596H|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q1599H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q1576H|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q1559H|PCDH15_ENST00000395442.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1599					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCCTTGCCACTGCTGCAGAT	0.448000										HNSCC(58;0.16)			32	86					5.77227e-19	8.65841e-19	0.008361	1	0
AADAT	51166	broad.mit.edu	37	4	170994373	170994373	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:170994373T>C	ENST00000337664.4	-	5	844	c.568A>G	c.(568-570)Acc>Gcc	p.T190A	AADAT_ENST00000509167.1_Missense_Mutation_p.T194A|AADAT_ENST00000515480.1_Missense_Mutation_p.T190A|AADAT_ENST00000353187.2_Missense_Mutation_p.T190A	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	190					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AATTTGGGGGTGTTTTTCTGG	0.388000													24	72					0	0	0.005443	0	0
ADARB1	104	broad.mit.edu	37	21	46642007	46642007	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr21:46642007G>T	ENST00000539173.1	+	12	2556	c.2121G>T	c.(2119-2121)gaG>gaT	p.E707D	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.E707D|ADARB1_ENST00000389863.4_Missense_Mutation_p.E707D|ADARB1_ENST00000348831.4_Missense_Mutation_p.E667D	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	707	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CGGCAAAGGAGTACCAGGCCG	0.577000													11	25					3.86212e-05	4.21322e-05	0.008291	1	0
C9orf139	401563	broad.mit.edu	37	9	139929107	139929107	+	Silent	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:139929107C>A	ENST00000314330.2	+	3	1688	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	58										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		AACAGACACCCGGCGGCAGTT	0.662000													42	115					3.61183e-13	4.96082e-13	0.014410	1	0
SPATA8	145946	broad.mit.edu	37	15	97326886	97326886	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr15:97326886A>T	ENST00000328504.3	+	1	268	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	1										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGCATGAGGAATGGCCCCGGC	0.567000													17	43					0	0	0.002780	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927525	92927525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:92927525G>C	ENST00000373079.3	-	1	1042	c.779C>G	c.(778-780)gCa>gGa	p.A260G	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	260					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTTATCATCTGCCTTTACCTG	0.443000													43	33					0	0	0.009718	0	0
PARD3	56288	broad.mit.edu	37	10	34759051	34759051	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr10:34759051G>C	ENST00000374789.3	-	4	869	c.544C>G	c.(544-546)Cag>Gag	p.Q182E	PARD3_ENST00000346874.4_Missense_Mutation_p.Q182E|PARD3_ENST00000374788.3_Missense_Mutation_p.Q182E|PARD3_ENST00000374773.1_Missense_Mutation_p.Q182E|PARD3_ENST00000545260.1_Missense_Mutation_p.Q182E|PARD3_ENST00000350537.4_Missense_Mutation_p.Q182E|PARD3_ENST00000374776.1_Missense_Mutation_p.Q182E|PARD3_ENST00000545693.1_Missense_Mutation_p.Q182E|PARD3_ENST00000374790.3_Missense_Mutation_p.Q182E|PARD3_ENST00000374794.3_Missense_Mutation_p.Q182E|PARD3_ENST00000340077.5_Missense_Mutation_p.Q182E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	182					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCAGTGTTCTGCTTGAGGAAG	0.498000													24	79					0	0	0.002780	0	0
PHKB	5257	broad.mit.edu	37	16	47698808	47698808	+	Silent	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr16:47698808C>T	ENST00000455779.1	+	26	2513	c.2328C>T	c.(2326-2328)cgC>cgT	p.R776R	PHKB_ENST00000299167.8_Intron|PHKB_ENST00000566044.1_Intron|PHKB_ENST00000323584.5_Silent_p.R783R			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	783	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGGCGGTGCGCTACGGGGCTG	0.423000													4	20					0	0	0.009096	0	0
ZIC3	7547	broad.mit.edu	37	X	136649658	136649658	+	Silent	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:136649658C>A	ENST00000287538.5	+	1	1358	c.808C>A	c.(808-810)Cgg>Agg	p.R270R	ZIC3_ENST00000370606.3_Silent_p.R270R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	270					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GAGCTGCGACCGGACCTTCAG	0.612000													31	33					2.61193e-14	3.6535e-14	0.009535	1	0
PALLD	23022	broad.mit.edu	37	4	169842725	169842725	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:169842725A>G	ENST00000335742.7	+	18	3723	c.2366A>G	c.(2365-2367)gAt>gGt	p.D789G	CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.D565G|PALLD_ENST00000261509.6_Missense_Mutation_p.D947G|PALLD_ENST00000507735.1_Missense_Mutation_p.D460G|PALLD_ENST00000505667.1_Missense_Mutation_p.D964G			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1171	Interaction with EPS8 (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGGCAACTAGATGGAAAGCCC	0.468000									Pancreatic Cancer, Familial Clustering of				5	19					0	0	0.001168	0	0
CSPG4	1464	broad.mit.edu	37	15	75977633	75977633	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr15:75977633G>T	ENST00000308508.5	-	4	4291	c.4199C>A	c.(4198-4200)cCa>cAa	p.P1400Q		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1400	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGCTGGGGTGGCTCCAGCAC	0.672000													12	39					2.27111e-07	2.66914e-07	0.013537	1	0
ZBTB44	29068	broad.mit.edu	37	11	130131094	130131094	+	Silent	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:130131094G>C	ENST00000525842.1	-	2	1042	c.675C>G	c.(673-675)tcC>tcG	p.S225S	ZBTB44_ENST00000357899.4_Silent_p.S225S|ZBTB44_ENST00000530205.1_Silent_p.S225S|ZBTB44_ENST00000397753.1_Silent_p.S225S	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GAAAAGCTAAGGAAGAGTCAA	0.423000													11	35					0	0	0.008291	0	0
FOLH1	2346	broad.mit.edu	37	11	49168312	49168312	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:49168312G>T	ENST00000340334.7	-	20	2572	c.2204C>A	c.(2203-2205)gCc>gAc	p.A735D	FOLH1_ENST00000533034.1_Missense_Mutation_p.A704D|FOLH1_ENST00000256999.2_Missense_Mutation_p.A750D|FOLH1_ENST00000343844.4_Missense_Mutation_p.A442D|FOLH1_ENST00000356696.3_Missense_Mutation_p.A719D	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	750					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCCTCTTAGGCTACTTCACT	0.403000													19	47					1.33834e-09	1.66744e-09	0.007413	1	0
ZNF781	163115	broad.mit.edu	37	19	38160967	38160967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr19:38160967G>T	ENST00000358582.4	-	4	831	c.83C>A	c.(82-84)gCt>gAt	p.A28D	ZNF781_ENST00000590008.1_Missense_Mutation_p.A28D|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TTTCTGATTAGCATGACTTAT	0.363000													35	91					5.71845e-15	8.09818e-15	0.005524	1	0
CKAP4	10970	broad.mit.edu	37	12	106633456	106633456	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr12:106633456G>A	ENST00000378026.4	-	2	1291	c.1155C>T	c.(1153-1155)caC>caT	p.H385H		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	385						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCTTCGGCCCGTGGGAATCGG	0.617000													20	31					0	0	0.008871	0	0
SVEP1	79987	broad.mit.edu	37	9	113194765	113194765	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:113194765T>C	ENST00000401783.2	-	31	5546	c.5210A>G	c.(5209-5211)aAc>aGc	p.N1737S	SVEP1_ENST00000374469.1_Missense_Mutation_p.N1714S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1737	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAAACGCCGTTCCAGCTCCC	0.443000													32	94					0	0	0.006230	0	0
KDR	3791	broad.mit.edu	37	4	55962434	55962434	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:55962434T>A	ENST00000263923.4	-	19	2985	c.2690A>T	c.(2689-2691)aAt>aTt	p.N897I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	897	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGACCACATTGAGATGGTG	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			13	32					0	0	0.002450	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143794	91143794	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr10:91143794G>C	ENST00000371809.3	+	2	804	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	242							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GTACATTGAAGAAGCTCTGAC	0.418000													49	232					0	0	0.014410	0	0
MYT1	4661	broad.mit.edu	37	20	62839774	62839774	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr20:62839774G>T	ENST00000536311.1	+	7	1589	c.1225G>T	c.(1225-1227)Ggc>Tgc	p.G409C	MYT1_ENST00000328439.1_Missense_Mutation_p.G409C|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	409					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGCCAGCTGGGCCTGGGAGA	0.662000													17	17					1.02788e-11	1.37051e-11	0.004990	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140870004	140870004	+	Silent	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:140870004T>A	ENST00000252087.1	+	1	1197	c.1197T>A	c.(1195-1197)ccT>ccA	p.P399P	PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		399	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTAAGCCTTCTGAGAACC	0.532000													43	134					0	0	0.007835	0	0
B3GALTL	145173	broad.mit.edu	37	13	31821177	31821177	+	Silent	SNP	C	C	G	rs9542305	byFrequency	TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr13:31821177C>G	ENST00000343307.4	+	5	437	c.288C>G	c.(286-288)ctC>ctG	p.L96L		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	96					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CCAGTGTCCTCCTCCTTCATC	0.378000													10	33					0	0	0.010729	0	0
LAMA3	3909	broad.mit.edu	37	18	21501494	21501494	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr18:21501494G>A	ENST00000313654.9	+	62	8363	c.8122G>A	c.(8122-8124)Gta>Ata	p.V2708I	LAMA3_ENST00000399516.3_Missense_Mutation_p.V2652I|LAMA3_ENST00000587184.1_Missense_Mutation_p.V1043I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.V1099I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2708	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.V2708L(1)|p.V1099L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATGGTGAAGTATTTGATTT	0.328000													25	57					0	0	0.007291	0	0
LY6H	4062	broad.mit.edu	37	8	144239832	144239832	+	Silent	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:144239832T>C	ENST00000414417.2	-	5	554	c.321A>G	c.(319-321)tcA>tcG	p.S107S	LY6H_ENST00000430474.2_Silent_p.S86S|LY6H_ENST00000342752.4_Silent_p.S107S	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	86					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCAGATAGTCTGAGAAAAAGT	0.547000													34	114					0	0	0.004878	0	0
TARBP1	6894	broad.mit.edu	37	1	234529405	234529405	+	Silent	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:234529405C>A	ENST00000040877.1	-	27	4421	c.4422G>T	c.(4420-4422)ccG>ccT	p.P1474P	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1474					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAATTGGTCGGTTTGTCGA	0.453000													29	74					3.69857e-22	5.69779e-22	0.008361	1	0
CELSR2	1952	broad.mit.edu	37	1	109792762	109792762	+	Silent	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:109792762T>C	ENST00000271332.3	+	1	122	c.61T>C	c.(61-63)Ttg>Ctg	p.L21L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	21					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgctgttgctgctgct	0.746000													3	30					0	0	0.004672	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171416	150171416	+	Silent	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:150171416G>T	ENST00000307271.3	+	4	1573	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	333						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGACACCACTGGGCTTTTACA	0.423000													29	56					5.61819e-17	8.1589e-17	0.005443	1	0
TPST2	8459	broad.mit.edu	37	22	26937184	26937184	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr22:26937184T>A	ENST00000338754.4	-	3	683	c.413A>T	c.(412-414)cAg>cTg	p.Q138L	TPST2_ENST00000403880.1_Missense_Mutation_p.Q138L|TPST2_ENST00000398110.2_Missense_Mutation_p.Q138L	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	138					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GATGAAGGCCTGCATGGCGGC	0.657000													18	36					0	0	0.007413	0	0
ZNF91	7644	broad.mit.edu	37	19	23544446	23544446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr19:23544446C>A	ENST00000300619.7	-	4	1540	c.1335G>T	c.(1333-1335)tgG>tgT	p.W445C	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.W413C	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	445						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGCTTGAGGACCAGTTAAATG	0.338000													11	41					0.00010058	0.000108171	0.013537	1	0
CYP7B1	9420	broad.mit.edu	37	8	65528462	65528462	+	Silent	SNP	T	T	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:65528462T>G	ENST00000310193.3	-	3	809	c.636A>C	c.(634-636)ctA>ctC	p.L212L		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	212					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATCATCTCTTAGCTCACTAA	0.289000													17	33					0	0	0.004007	0	0
CLSPN	63967	broad.mit.edu	37	1	36214094	36214094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:36214094C>A	ENST00000251195.5	-	13	2480	c.2384G>T	c.(2383-2385)cGt>cTt	p.R795L	CLSPN_ENST00000373220.3_Missense_Mutation_p.R731L|CLSPN_ENST00000520551.1_Missense_Mutation_p.R742L|CLSPN_ENST00000318121.3_Missense_Mutation_p.R795L			Q9HAW4	CLSPN_HUMAN	claspin	795					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTGGTCCCACGGCCTGTTTG	0.488000													29	73					1.75199e-13	2.42092e-13	0.007291	1	0
TSHZ3	57616	broad.mit.edu	37	19	31767716	31767716	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr19:31767716G>A	ENST00000240587.4	-	2	3310	c.2983C>T	c.(2983-2985)Cta>Tta	p.L995L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	995					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGTGACTCTAGGTGACTGATG	0.468000													18	59					0	0	0.007413	0	0
IGHG1	3500	broad.mit.edu	37	14	106208537	106208537	+	RNA	SNP	C	C	T	rs111358523		TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr14:106208537C>T	ENST00000390548.2	-	0	362																											GGAAGACTGACGGTCCCCCCA	0.627000													6	141					0	0	0.001168	0	0
DRD2	1813	broad.mit.edu	37	11	113288749	113288749	+	Splice_Site	SNP	C	C	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:113288749C>G	ENST00000362072.3	-	3	739	c.395_splice	c.e3+1	p.R132_splice	DRD2_ENST00000355319.2_Splice_Site_p.R132_splice|DRD2_ENST00000542968.1_Splice_Site_p.R132_splice|DRD2_ENST00000346454.3_Splice_Site_p.R132_splice|DRD2_ENST00000538967.1_Splice_Site_p.R132_splice|DRD2_ENST00000544518.1_Splice_Site_p.R131_splice|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	132					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.R132K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CTGGGCTCACCTGTCGATGCT	0.552000													10	25					0	0	0.006214	0	0
PRSS38	339501	broad.mit.edu	37	1	228033262	228033262	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:228033262G>C	ENST00000366757.3	+	4	699	c.675G>C	c.(673-675)atG>atC	p.M225I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	225	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCTACATCATGCCCGACATGC	0.602000													11	41					0	0	0.010729	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900413	4900413	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:4900413T>A	ENST00000404991.1	-	1	1212	c.1026A>T	c.(1024-1026)aaA>aaT	p.K342N	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	342					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CAAGCCCCTGTTTAAACTCCT	0.428000													37	86					0	0	0.003755	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137534	63137534	+	Silent	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:63137534C>T	ENST00000279178.3	+	1	255	c.6C>T	c.(4-6)gcC>gcT	p.A2A	SLC22A9_ENST00000310969.4_Silent_p.A2A	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	2					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTCAATGGCCTTTCAGGACC	0.433000													27	81					0	0	0.004656	0	0
LCN9	392399	broad.mit.edu	37	9	138557593	138557593	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:138557593A>G	ENST00000277526.3	+	5	470	c.470A>G	c.(469-471)aAc>aGc	p.N157S	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	157						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GACTTGACCAACAAAGGTCAG	0.607000													6	18					0	0	0.001168	0	0
ZNF521	25925	broad.mit.edu	37	18	22806842	22806842	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr18:22806842A>G	ENST00000361524.3	-	4	1188	c.1040T>C	c.(1039-1041)gTc>gCc	p.V347A	ZNF521_ENST00000538137.2_Missense_Mutation_p.V347A|ZNF521_ENST00000584787.1_Missense_Mutation_p.V127A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	347					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCCCACCGTGACCAGGGAAGG	0.537000			T	PAX5	ALL								17	57					0	0	0.004007	0	0
TRPS1	7227	broad.mit.edu	37	8	116616327	116616327	+	Silent	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:116616327C>T	ENST00000395715.3	-	4	2446	c.1869G>A	c.(1867-1869)tcG>tcA	p.S623S	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Silent_p.S610S|TRPS1_ENST00000520276.1_Silent_p.S614S|TRPS1_ENST00000519674.1_Silent_p.S610S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	610					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTTTGACTCGCGAGCTTCCAG	0.478000									Langer-Giedion syndrome				16	82					0	0	0.004007	0	0
MYO7A	4647	broad.mit.edu	37	11	76872035	76872035	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:76872035T>A	ENST00000409709.3	+	12	1489	c.1217T>A	c.(1216-1218)cTg>cAg	p.L406Q	MYO7A_ENST00000409893.1_Missense_Mutation_p.L406Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.L395Q|MYO7A_ENST00000458637.2_Missense_Mutation_p.L406Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	406	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACGGGCGGCTGTTCGTGTGG	0.602000													4	9					0	0	0.009096	0	0
P2RY8	286530	broad.mit.edu	37	X	1585309	1585309	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:1585309A>G	ENST00000381297.4	-	2	353	c.143T>C	c.(142-144)cTg>cCg	p.L48P		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	48						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCCGGCACAGCACCCACAG	0.642000			T	CRLF2	"""B-ALL, Downs associated ALL"""								27	34					0	0	0.005443	0	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617000		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)			19	26					4.35082e-09	5.30474e-09	0.010504	1	0
ZFPM2	23414	broad.mit.edu	37	8	106573688	106573688	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:106573688G>T	ENST00000407775.2	+	4	649	c.399G>T	c.(397-399)atG>atT	p.M133I	ZFPM2_ENST00000520492.1_Start_Codon_SNP_p.M1I|ZFPM2_ENST00000517361.1_Start_Codon_SNP_p.M1I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	133					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGGGAAGATGGACTTGAATA	0.433000													7	37					2.0095e-06	2.29083e-06	0.001984	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128813	248128813	+	Silent	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:248128813G>T	ENST00000366480.3	+	1	279	c.180G>T	c.(178-180)ctG>ctT	p.L60L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATATCATGCTGATCCACCTCA	0.458000													54	126					1.87854e-15	2.67692e-15	0.014410	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072917	17072917	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr22:17072917G>T	ENST00000359963.3	-	1	783	c.524C>A	c.(523-525)tCc>tAc	p.S175Y		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	175					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCATGGGGGACAGGGTGTG	0.612000													24	52					3.01185e-09	3.69194e-09	0.003954	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43822569	43822569	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr12:43822569G>T	ENST00000389420.3	-	25	3522	c.3523C>A	c.(3523-3525)Cgc>Agc	p.R1175S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1175S|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R293S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1175	TSP type-1 7.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTACATAGCGGGCTTGAGTA	0.433000													20	52					1.90627e-21	2.89753e-21	0.012319	1	0
LAD1	3898	broad.mit.edu	37	1	201354831	201354831	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:201354831G>A	ENST00000391967.2	-	4	1430	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	LAD1_ENST00000367313.3_Missense_Mutation_p.R391W	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	377						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCTCACCCGAAAGGAGATG	0.587000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	134					0	0	0.014410	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709544	31709544	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr21:31709544G>T	ENST00000382835.2	-	1	468	c.443C>A	c.(442-444)tCt>tAt	p.S148Y		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	148						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GAAATTTTTAGACTTAGAAGT	0.488000													49	153					1.56793e-16	2.24835e-16	0.014410	1	0
ST5	6764	broad.mit.edu	37	11	8752646	8752646	+	Missense_Mutation	SNP	C	C	A	rs141444386		TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:8752646C>A	ENST00000534127.1	-	6	576	c.191G>T	c.(190-192)cGg>cTg	p.R64L	ST5_ENST00000357665.1_Missense_Mutation_p.R64L|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R64L|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	64	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GAGGAGCACCCGGGAGCTGGA	0.617000													18	35					2.4624e-09	3.03474e-09	0.008871	1	0
POLI	11201	broad.mit.edu	37	18	51813701	51813701	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr18:51813701G>T	ENST00000579534.1	+	8	1261	c.1118G>T	c.(1117-1119)cGg>cTg	p.R373L	POLI_ENST00000217800.5_Missense_Mutation_p.R247L|POLI_ENST00000406285.3_Missense_Mutation_p.R294L|POLI_ENST00000579434.1_Missense_Mutation_p.R270L|POLI_ENST00000582366.1_3'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	373	DNA binding.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ATAATCCGTCGGTATTCCTCT	0.388000								DNA polymerases (catalytic subunits)					4	10					0.00909568	0.00934151	0.009096	1	0
KCNN3	3782	broad.mit.edu	37	1	154842157	154842157	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:154842157G>T	ENST00000271915.3	-	1	599	c.284C>A	c.(283-285)cCc>cAc	p.P95H		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	100						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGGGTGGACGGGCTGGCTCTG	0.677000													8	11					0.000157383	0.000166899	0.003080	1	0
NLRP1	22861	broad.mit.edu	37	17	5405149	5405149	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr17:5405149G>A	ENST00000262467.5	-	16	4686	c.4113C>T	c.(4111-4113)gaC>gaT	p.D1371D		NM_001033053.2	NP_001028225.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	0					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATCTCCTGGCGTCTCTGTTGC	0.552000													29	28					0	0	0.008361	0	0
INA	9118	broad.mit.edu	37	10	105037114	105037114	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr10:105037114C>T	ENST00000369849.4	+	1	195	c.146C>T	c.(145-147)gCc>gTc	p.A49V		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	49	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGCAATGTGGCCTCCTCGGCC	0.771000													13	14					0	0	0.013537	0	0
LIX1L	128077	broad.mit.edu	37	1	145498663	145498663	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:145498663G>A	ENST00000369308.3	+	6	973	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	300										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGAGCGGGAGCTGGAT	0.582000													17	36					0	0	0.006122	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513887	50513887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:50513887C>A	ENST00000419119.1	-	2	2652	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.E367*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.E367*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.E367*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	367					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGTGCTGGTTCTGTAGGTCCT	0.453000													51	114					1.86633e-21	2.85587e-21	0.014410	1	0
PLCG2	5336	broad.mit.edu	37	16	81902818	81902818	+	Splice_Site	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr16:81902818G>T	ENST00000359376.3	+	6	693		c.e6-1		PLCG2_ENST00000565400.1_Splice_Site	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)						intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTCTTTTGCAGCATCAGTCTC	0.478000													56	193					3.7469e-33	6.19053e-33	0.014410	1	0
FCN2	2220	broad.mit.edu	37	9	137779022	137779022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:137779022C>A	ENST00000350339.2	+	7	603	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	FCN2_ENST00000291744.6_Missense_Mutation_p.L235M	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	235	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGGAGATTCCCTGACGTTCCA	0.478000													31	97					8.16721e-17	1.17856e-16	0.010818	1	0
TSIX	9383	broad.mit.edu	37	X	73046729	73046729	+	RNA	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:73046729C>A	ENST00000604411.1	+	0	34690				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GTGTCCTGTCCCAGGTCTTAA	0.502000													37	18					9.04072e-19	1.3385e-18	0.003271	1	0
ATP2B3	492	broad.mit.edu	37	X	152807814	152807814	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:152807814A>T	ENST00000370186.1	+	5	1024	c.698A>T	c.(697-699)cAg>cTg	p.Q233L	ATP2B3_ENST00000393842.1_Missense_Mutation_p.Q233L|ATP2B3_ENST00000370181.2_Missense_Mutation_p.Q233L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.Q233L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.Q233L|ATP2B3_ENST00000349466.2_Missense_Mutation_p.Q233L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	233					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTCATCCAGGCCAATGAC	0.657000													27	17					0	0	0.005443	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940257	82940257	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:82940257C>T	ENST00000274341.4	-	4	1550	c.700G>A	c.(700-702)Gga>Aga	p.G234R		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	234	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TTCCTGACTCCGGGCACTGTG	0.483000													26	75					0	0	0.003954	0	0
OR6C1	390321	broad.mit.edu	37	12	55715320	55715320	+	Nonstop_Mutation	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr12:55715320T>A	ENST00000379668.2	+	1	975	c.937T>A	c.(937-939)Tga>Aga	p.*313R		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CACAAGCACATGAAATGGTAT	0.403000													24	37					0	0	0.014323	0	0
MARCH4	57574	broad.mit.edu	37	2	217234842	217234842	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:217234842C>T	ENST00000273067.4	-	1	1908	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	48						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCTTCAGGTCATTGAAGAGC	0.652000													8	9					0	0	0.004482	0	0
SLC1A3	6507	broad.mit.edu	37	5	36680558	36680558	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:36680558G>T	ENST00000265113.4	+	8	1632	c.1156G>T	c.(1156-1158)Gtc>Ttc	p.V386F	SLC1A3_ENST00000381918.3_Missense_Mutation_p.V386F|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	386					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGACAAGCGCGTCACCAGATT	0.512000													11	41					5.16669e-11	6.77014e-11	0.010729	1	0
MFAP3L	9848	broad.mit.edu	37	4	170912985	170912985	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:170912985C>T	ENST00000361618.3	-	3	1081	c.774G>A	c.(772-774)atG>atA	p.M258I	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.M155I	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	258						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CAACCACCTCCATAATCTCCT	0.557000													21	74					0	0	0.008871	0	0
GDAP1	54332	broad.mit.edu	37	8	75276523	75276523	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:75276523G>C	ENST00000220822.7	+	6	1078	c.998G>C	c.(997-999)gGa>gCa	p.G333A	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.G265A	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	333						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GCAGGAGTGGGATATTTTGCT	0.458000													19	79					0	0	0.007413	0	0
DNAH3	55567	broad.mit.edu	37	16	20975684	20975684	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr16:20975684G>A	ENST00000261383.3	-	53	9521	c.9522C>T	c.(9520-9522)acC>acT	p.T3174T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3174	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCAAACGGGTTGTGATGT	0.453000													27	108					0	0	0.005443	0	0
TMCC1	23023	broad.mit.edu	37	3	129546826	129546826	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr3:129546826C>G	ENST00000393238.3	-	3	736	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TMCC1_ENST00000426664.2_Missense_Mutation_p.K18N	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	132						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGGGACTTCCCTTTGGGGCCT	0.552000													34	73					0	0	0.003271	0	0
MST1R	4486	broad.mit.edu	37	3	49940901	49940901	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr3:49940901T>C	ENST00000296474.3	-	1	169	c.142A>G	c.(142-144)Agc>Ggc	p.S48G	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.S48G	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	48	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCGGAGAAGCTGGGCACCACG	0.642000													11	109					0	0	0.008291	0	0
OR51S1	119692	broad.mit.edu	37	11	4870013	4870013	+	Silent	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:4870013C>A	ENST00000322101.2	-	1	501	c.426G>T	c.(424-426)gcG>gcT	p.A142A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGAGGAGCGCTGGGTAGT	0.532000													29	103					4.87955e-14	6.78377e-14	0.005443	1	0
CACNA1C	775	broad.mit.edu	37	12	2694555	2694555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr12:2694555G>T	ENST00000399655.1	+	17	2618	c.2353G>T	c.(2353-2355)Gag>Tag	p.E785*	CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E810*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E785*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E785*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	785					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCCAGCCCAGAGAAGAAACA	0.542000													6	10					3.59834e-05	3.94433e-05	0.001168	1	0
SNHG14	104472715	broad.mit.edu	37	15	25436498	25436498	+	RNA	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr15:25436498G>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CTGAGCTGCGGTGAGCCTATC	0.607000													45	130					1.62957e-23	2.54481e-23	0.008740	1	0
CPA1	1357	broad.mit.edu	37	7	130021575	130021575	+	Silent	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:130021575C>T	ENST00000011292.3	+	3	402	c.252C>T	c.(250-252)atC>atT	p.I84I	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	84					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCCACGGCATCAGCTATGAGA	0.637000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	59					0	0	0.010504	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256525	15256525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr10:15256525G>C	ENST00000378116.4	-	8	1068	c.1062C>G	c.(1060-1062)gaC>gaG	p.D354E	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	354						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACGTGGACTGGTCTCTTTTGG	0.577000													15	58					0	0	0.002450	0	0
POT1	25913	broad.mit.edu	37	7	124503423	124503423	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:124503423C>A	ENST00000357628.3	-	8	1125	c.527G>T	c.(526-528)gGa>gTa	p.G176V	POT1_ENST00000393329.1_Missense_Mutation_p.G45V	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	176					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAATGATGCTCCGTCCACTTC	0.383000													15	64					1.3612e-06	1.56745e-06	0.003163	1	0
TTN	7273	broad.mit.edu	37	2	179605555	179605555	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:179605555A>T	ENST00000589042.1	-	48	12629	c.12405T>A	c.(12403-12405)aaT>aaA	p.N4135K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N3772K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.N3964K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N3897K|TTN_ENST00000591111.1_Missense_Mutation_p.N3818K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3818							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)			GAATACTGCCATTGATGCAAA	0.453000													44	131					0	0	0.014410	0	0
ABCA10	10349	broad.mit.edu	37	17	67215886	67215886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr17:67215886C>A	ENST00000423818.2	-	5	634	c.226G>T	c.(226-228)Gga>Tga	p.G76*	ABCA10_ENST00000432313.2_Missense_Mutation_p.E110D|ABCA10_ENST00000269081.4_Missense_Mutation_p.E110D|ABCA10_ENST00000416101.2_Missense_Mutation_p.E110D			Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	0					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGTCAACTCCTCCATTACAG	0.279000													16	59					4.7546e-09	5.76622e-09	0.004007	1	0
IGKV2-30	28919	broad.mit.edu	37	2	89544374	89544374	+	RNA	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:89544374G>C	ENST00000468494.1	-	0	279																											AATCTGTCTGGGACCCCAGAG	0.498000													59	169					0	0	0.014410	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230238	140230238	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:140230238G>T	ENST00000378122.3	+	1	2882	c.2158G>T	c.(2158-2160)Gtg>Ttg	p.V720L	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.V720L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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)			GCTGTACACTGTGCTGCGGTG	0.647000													54	98					2.01807e-28	3.28657e-28	0.014410	1	0
UCMA	221044	broad.mit.edu	37	10	13275788	13275788	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr10:13275788C>T	ENST00000378681.3	-	2	143	c.71G>A	c.(70-72)gGa>gAa	p.G24E	UCMA_ENST00000463405.2_Intron	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	24						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TACACTGGTTCCCTCTCTCAG	0.622000													25	63					0	0	0.002780	0	0
SF1	7536	broad.mit.edu	37	11	64535613	64535613	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:64535613G>A	ENST00000377390.3	-	9	1370	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	SF1_ENST00000433274.2_Missense_Mutation_p.R319C|SF1_ENST00000377387.1_Missense_Mutation_p.R470C|SF1_ENST00000377394.3_Missense_Mutation_p.R345C|SF1_ENST00000334944.5_Missense_Mutation_p.R345C|SF1_ENST00000227503.9_Missense_Mutation_p.R345C|SF1_ENST00000422298.2_Missense_Mutation_p.R230C	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	345	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCAGCAGGACGAGGTGCGCTG	0.622000											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	46					0	0	0.010729	0	0
SPRY1	10252	broad.mit.edu	37	4	124323066	124323066	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:124323066G>T	ENST00000394339.2	+	2	660	c.320G>T	c.(319-321)aGg>aTg	p.R107M	SPRY1_ENST00000339241.1_Missense_Mutation_p.R107M	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	107					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGTAATGCCAGGGGCCCCATT	0.493000													18	59					3.41278e-10	4.32286e-10	0.004990	1	0
DCDC1	341019	broad.mit.edu	37	11	30915840	30915840	+	Silent	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:30915840C>T	ENST00000597505.1	-	33	4847	c.4848G>A	c.(4846-4848)caG>caA	p.Q1616Q	DCDC1_ENST00000406071.2_Silent_p.Q354Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTGTTGAGTCTGTTCGGTCC	0.483000													18	38					0	0	0.007413	0	0
NEB	4703	broad.mit.edu	37	2	152472617	152472617	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:152472617A>T	ENST00000427231.2	-	76	11390	c.11188T>A	c.(11188-11190)Tat>Aat	p.Y3730N	NEB_ENST00000409198.1_Missense_Mutation_p.Y3487N|NEB_ENST00000603639.1_Missense_Mutation_p.Y3730N|NEB_ENST00000604864.1_Missense_Mutation_p.Y3730N|NEB_ENST00000172853.10_Missense_Mutation_p.Y3487N|NEB_ENST00000397345.3_Missense_Mutation_p.Y3730N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3730					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAAGTTTATAGAGTTTCTGT	0.373000													4	15					0	0	0.009096	0	0
PMP2	5375	broad.mit.edu	37	8	82357106	82357106	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:82357106G>A	ENST00000256103.2	-	2	328	c.192C>T	c.(190-192)tcC>tcT	p.S64S	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	64						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			CTAGCTTGAAGGAGATTTCTG	0.393000													14	54					0	0	0.004007	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063880	48063880	+	Silent	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr15:48063880G>T	ENST00000316364.5	+	19	3559	c.3120G>T	c.(3118-3120)acG>acT	p.T1040T	SEMA6D_ENST00000558014.1_Silent_p.T978T|SEMA6D_ENST00000389433.2_Silent_p.T1021T|SEMA6D_ENST00000389428.3_Silent_p.T965T|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.T978T|SEMA6D_ENST00000354744.4_Silent_p.T984T|SEMA6D_ENST00000389432.2_Silent_p.T997T|SEMA6D_ENST00000536845.2_Silent_p.T1040T|SEMA6D_ENST00000537942.1_Silent_p.T978T	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1040					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.T1040T(1)|p.T978T(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCCTAGGACGGGACTAAAGA	0.502000													66	184					9.40535e-28	1.52086e-27	0.014410	1	0
ARHGAP10	79658	broad.mit.edu	37	4	148744059	148744059	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:148744059G>A	ENST00000336498.3	+	3	502	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	88	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCTTCCTTACGTGAATTTTCA	0.353000													13	42					0	0	0.001855	0	0
MEFV	4210	broad.mit.edu	37	16	3306345	3306345	+	Silent	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr16:3306345C>A	ENST00000219596.1	-	1	282	c.243G>T	c.(241-243)ctG>ctT	p.L81L	MEFV_ENST00000339854.4_Silent_p.L81L|MEFV_ENST00000536379.1_Silent_p.L81L|MEFV_ENST00000541159.1_Silent_p.L81L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	81	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTCGGCCAGCAGGCGCTGGT	0.647000													27	45					4.59853e-10	5.79262e-10	0.005443	1	0
SENP1	29843	broad.mit.edu	37	12	48490160	48490160	+	Silent	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr12:48490160T>A	ENST00000339976.6	-	4	664	c.282A>T	c.(280-282)acA>acT	p.T94T	SENP1_ENST00000448372.1_Silent_p.T62T|SENP1_ENST00000549518.1_Silent_p.T62T|SENP1_ENST00000551330.1_Silent_p.T62T|SENP1_ENST00000549595.1_Silent_p.T62T|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000004980.5_Silent_p.T62T			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	62	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTGCACTTCTTGTGGAACATG	0.338000													10	13					0	0	0.008291	0	0
SNRNP200	23020	broad.mit.edu	37	2	96957582	96957582	+	Silent	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:96957582C>A	ENST00000323853.5	-	17	2294	c.2217G>T	c.(2215-2217)cgG>cgT	p.R739R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	739	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCACATGTCCCGGATGGCCC	0.552000													16	42					2.32078e-09	2.87575e-09	0.003163	1	0
KLHL23	151230	broad.mit.edu	37	2	170591661	170591661	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:170591661T>G	ENST00000392647.2	+	2	381	c.137T>G	c.(136-138)aTa>aGa	p.I46R	KLHL23_ENST00000272797.4_Missense_Mutation_p.I46R|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	46	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCTTCAGGCATAATTTTCCAT	0.338000													13	66					0	0	0.013537	0	0
VAC14	55697	broad.mit.edu	37	16	70726775	70726775	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr16:70726775A>C	ENST00000261776.5	-	18	2395	c.2135T>G	c.(2134-2136)cTg>cGg	p.L712R	VAC14_ENST00000536184.2_Missense_Mutation_p.L144R	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	712					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GTGCGAGAGCAGCTGGAAGGC	0.672000													11	26					0	0	0.008291	0	0
TAF1L	138474	broad.mit.edu	37	9	32635536	32635536	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:32635536G>A	ENST00000242310.4	-	1	131	c.42C>T	c.(40-42)acC>acT	p.T14T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	14					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGGCAGTGACGGTAGCTGCTG	0.537000													20	82					0	0	0.010504	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103310116	103310116	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:103310116A>T	ENST00000502978.1	+	6	541	c.541A>T	c.(541-543)Aga>Tga	p.R181*	TMEFF1_ENST00000374879.4_Silent_p.R217R|TMEFF1_ENST00000334943.6_Silent_p.R178R	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		0					multicellular organismal development	integral to membrane|plasma membrane											GTTTTGTTCGAGAAGCATCTT	0.348000													24	59					0	0	0.003954	0	0
RLBP1	6017	broad.mit.edu	37	15	89758424	89758424	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr15:89758424A>T	ENST00000268125.5	-	6	831	c.392T>A	c.(391-393)cTg>cAg	p.L131Q		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	131					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CTCTGGGGACAGGCTGTCAAA	0.577000													22	83					0	0	0.012319	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139576	1139576	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:1139576T>C	ENST00000379268.2	-	4	558	c.439A>G	c.(439-441)Aag>Gag	p.K147E	TNFRSF18_ENST00000328596.6_Intron|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.K75E|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.K147E	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	147					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGTGGGTCTTGTTCCCAGGG	0.677000													4	19					0	0	0.009096	0	0
GLRA3	8001	broad.mit.edu	37	4	175598431	175598431	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:175598431C>T	ENST00000274093.3	-	7	1227	c.725G>A	c.(724-726)tGt>tAt	p.C242Y	GLRA3_ENST00000340217.5_Missense_Mutation_p.C242Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	242					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CACTTCTATACACGTAAACTT	0.368000													7	30					0	0	0.001984	0	0
KCNV2	169522	broad.mit.edu	37	9	2717964	2717964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:2717964C>A	ENST00000382082.3	+	1	463	c.225C>A	c.(223-225)gaC>gaA	p.D75E		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CAGAAGAGGACCAGCAGGCAG	0.637000													19	51					1.56452e-12	2.11072e-12	0.007413	1	0
EPHB6	2051	broad.mit.edu	37	7	142562013	142562013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:142562013G>A	ENST00000392957.2	+	7	1242	c.455G>A	c.(454-456)tGg>tAg	p.W152*	EPHB6_ENST00000442129.1_Nonsense_Mutation_p.W152*|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	152						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTCAAACGCTGGACCAAGGTG	0.632000													6	141					0	0	0.001168	0	0
COL4A4	1286	broad.mit.edu	37	2	227915774	227915774	+	Silent	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:227915774T>C	ENST00000396625.3	-	33	3276	c.3069A>G	c.(3067-3069)ccA>ccG	p.P1023P	COL4A4_ENST00000329662.7_Silent_p.P1023P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1023	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGGAGGCCCTGGCTGACCTT	0.572000													39	117					0	0	0.004878	0	0
HMCN1	83872	broad.mit.edu	37	1	186099122	186099122	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:186099122A>G	ENST00000271588.4	+	84	13158	c.12929A>G	c.(12928-12930)cAc>cGc	p.H4310R	HMCN1_ENST00000367492.2_Missense_Mutation_p.H4310R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4310	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGAATGGACACAGTGAACTT	0.428000													16	52					0	0	0.003163	0	0
HGSNAT	138050	broad.mit.edu	37	8	43046619	43046619	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:43046619G>T	ENST00000458501.2	+	12	1215	c.1215G>T	c.(1213-1215)gaG>gaT	p.E405D	HGSNAT_ENST00000521576.1_Missense_Mutation_p.E94D|HGSNAT_ENST00000379644.4_Missense_Mutation_p.E377D|HGSNAT_ENST00000297798.7_Missense_Mutation_p.E109D			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	405					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCACTCAGGAGAGGAGCTGCC	0.517000													80	216					6.8793e-45	1.14488e-44	0.014410	1	0
PCLO	27445	broad.mit.edu	37	7	82583161	82583161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:82583161C>A	ENST00000423517.2	-	5	7445	c.7108G>T	c.(7108-7110)Gaa>Taa	p.E2370*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.E2370*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2301	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGGTTTTTCCTGACCAAAG	0.438000													14	26					7.93312e-07	9.22832e-07	0.002450	1	0
ANKK1	255239	broad.mit.edu	37	11	113270666	113270666	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:113270666G>T	ENST00000303941.3	+	8	2069	c.1975G>T	c.(1975-1977)Ggc>Tgc	p.G659C		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	659							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGCAGTCAGGCTGGACACC	0.627000													22	60					7.41877e-09	8.90334e-09	0.012319	1	0
AUP1	550	broad.mit.edu	37	2	74754375	74754375	+	Splice_Site	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:74754375C>A	ENST00000377526.3	-	10	1386	c.1077_splice	c.e10+1	p.K359_splice		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	425						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						TGGGTCTCACCTTGGAGGCAG	0.517000													8	23					0.000157383	0.000166899	0.003080	1	0
SNHG14	104472715	broad.mit.edu	37	15	25436497	25436497	+	RNA	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr15:25436497G>A	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						ACTGAGCTGCGGTGAGCCTAT	0.607000													44	132					0	0	0.007835	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628977	84628977	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:84628977G>T	ENST00000284136.6	-	17	2156	c.2113C>A	c.(2113-2115)Cta>Ata	p.L705I	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	705					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCAGCCAATAGATCCTTGACC	0.473000													17	81					2.35188e-11	3.11761e-11	0.006122	1	0
ZYX	7791	broad.mit.edu	37	7	143079777	143079777	+	Splice_Site	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:143079777G>T	ENST00000322764.5	+	4	845	c.501_splice	c.e4+1	p.R167_splice	ZYX_ENST00000449423.2_Intron|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_Splice_Site_p.R10_splice	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	167					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TTCAAAGCCCGGGTAAGGGAC	0.532000													53	121					5.57489e-27	8.95124e-27	0.014410	1	0
TARBP1	6894	broad.mit.edu	37	1	234584270	234584270	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:234584270C>A	ENST00000040877.1	-	11	1916	c.1917G>T	c.(1915-1917)atG>atT	p.M639I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	639					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CCAGCAAGACCATCAGAGAAA	0.363000													8	31					2.74318e-10	3.57397e-10	0.006214	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200816775	200816775	+	Silent	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:200816775T>C	ENST00000358823.2	+	10	1470	c.1200T>C	c.(1198-1200)atT>atC	p.I400I	CAMSAP2_ENST00000236925.4_Silent_p.I411I|CAMSAP2_ENST00000413307.2_Silent_p.I384I	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	411						cytoplasm|microtubule	protein binding										AAGGAGGAATTAGAAGGTCTT	0.308000													7	70					0	0	0.003080	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064845	63064845	+	Missense_Mutation	SNP	G	G	T	rs113851643		TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:63064845G>T	ENST00000544661.1	+	4	540	c.112G>T	c.(112-114)Gct>Tct	p.A38S	SLC22A10_ENST00000332793.6_Missense_Mutation_p.A193S|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	193						integral to membrane	transmembrane transporter activity	p.A193S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCTGCCTTCGCTCCCACCTT	0.428000													29	60					7.41945e-09	8.90334e-09	0.005443	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178559242	178559242	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:178559242C>T	ENST00000251582.7	-	15	2380	c.2279G>A	c.(2278-2280)aGc>aAc	p.S760N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	760	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGATGGTGGCTGGTGGCGTC	0.547000													18	40					0	0	0.007413	0	0
KCNA2	3737	broad.mit.edu	37	1	111146525	111146525	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:111146525G>T	ENST00000485317.1	-	3	1553	c.880C>A	c.(880-882)Cgt>Agt	p.R294S	KCNA2_ENST00000369770.3_Missense_Mutation_p.R294S|KCNA2_ENST00000316361.4_Missense_Mutation_p.R294S|KCNA2_ENST00000440270.1_Missense_Mutation_p.R294S			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	294						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R294C(2)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CGGATGACACGGAGGATGGCC	0.537000													30	96					3.99451e-17	5.83813e-17	0.009535	1	0
OLFM2	93145	broad.mit.edu	37	19	9967504	9967504	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr19:9967504C>T	ENST00000264833.4	-	5	851	c.666G>A	c.(664-666)atG>atA	p.M222I	OLFM2_ENST00000590841.1_Missense_Mutation_p.M144I	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	222	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CACTGGGGGCCATCGTGTCAG	0.662000													10	23					0	0	0.010729	0	0
HYOU1	10525	broad.mit.edu	37	11	118926514	118926514	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:118926514T>C	ENST00000404233.3	-	3	257	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	HYOU1_ENST00000525859.1_Missense_Mutation_p.M45V|HYOU1_ENST00000543287.1_Intron|HYOU1_ENST00000529972.1_Missense_Mutation_p.M45V	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	45						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCCACCTTCATGGACTCACTG	0.552000													32	91					0	0	0.003271	0	0
XIRP2	129446	broad.mit.edu	37	2	168115451	168115451	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:168115451C>G	ENST00000409728.1	+	11	2583	c.2494C>G	c.(2494-2496)Cca>Gca	p.P832A	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.P577A|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.P799A|XIRP2_ENST00000409756.2_Missense_Mutation_p.P799A|XIRP2_ENST00000420519.1_Missense_Mutation_p.P832A	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGCTCCAAAACCAAGCCTCAG	0.443000													6	18					0	0	0.001984	0	0
FAT3	120114	broad.mit.edu	37	11	92577839	92577839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:92577839C>A	ENST00000298047.6	+	18	11323	c.11306C>A	c.(11305-11307)aCg>aAg	p.T3769K	FAT3_ENST00000533797.1_Missense_Mutation_p.T104K|FAT3_ENST00000409404.2_Missense_Mutation_p.T3769K|FAT3_ENST00000525166.1_Missense_Mutation_p.T3619K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3769					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)				ACCTACAGCACGGCTCGCATC	0.532000										TCGA Ovarian(4;0.039)			3	11					0.004672	0.00484189	0.004672	1	0
COL21A1	81578	broad.mit.edu	37	6	55924902	55924902	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr6:55924902G>A	ENST00000244728.5	-	28	2919	c.2522C>T	c.(2521-2523)cCc>cTc	p.P841L	COL21A1_ENST00000370819.1_Missense_Mutation_p.P838L|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.P841L|COL21A1_ENST00000370808.2_Missense_Mutation_p.P207L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	841	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TAATCCTCTGGGACCCTCTGG	0.512000													22	32					0	0	0.012319	0	0
DNAJB4	11080	broad.mit.edu	37	1	78479167	78479167	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:78479167C>T	ENST00000370763.5	+	2	901	c.644C>T	c.(643-645)aCt>aTt	p.T215I	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	215					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ACCAAAATTACTTTTCCAAGA	0.353000													22	51					0	0	0.002780	0	0
ITPR1	3708	broad.mit.edu	37	3	4725426	4725426	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr3:4725426G>T	ENST00000302640.8	+	27	3747	c.3397G>T	c.(3397-3399)Ggc>Tgc	p.G1133C	ITPR1_ENST00000456211.2_Missense_Mutation_p.G1124C|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1133C|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1148C|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1139C|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1139C|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1148					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAAAGGGCAGGGCCCCGATGA	0.468000													17	56					3.41278e-10	4.32286e-10	0.004990	1	0
P2RY8	286530	broad.mit.edu	37	X	1585308	1585308	+	Silent	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:1585308C>A	ENST00000381297.4	-	2	354	c.144G>T	c.(142-144)ctG>ctT	p.L48L		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	48						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCGCCGGCACAGCACCCACA	0.637000			T	CRLF2	"""B-ALL, Downs associated ALL"""								27	33					1.17739e-12	1.60746e-12	0.005443	1	0
OR11H6	122748	broad.mit.edu	37	14	20692792	20692792	+	Silent	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr14:20692792T>C	ENST00000315519.2	+	1	1002	c.924T>C	c.(922-924)taT>taC	p.Y308Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCCTTATCTATAGTCTTCGAA	0.413000													31	69					0	0	0.007291	0	0
TFAP2D	83741	broad.mit.edu	37	6	50712888	50712888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr6:50712888G>T	ENST00000008391.3	+	6	1180	c.952G>T	c.(952-954)Gga>Tga	p.G318*	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	318	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAAAGCAGTAGGAGAACATCT	0.463000													16	45					3.41278e-10	4.32286e-10	0.004990	1	0
BCAS1	8537	broad.mit.edu	37	20	52574006	52574006	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr20:52574006A>G	ENST00000395961.3	-	10	1547	c.1381T>C	c.(1381-1383)Tca>Cca	p.S461P	BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	461						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ATTTCTTCTGAGTGGGTGATC	0.443000													21	30					0	0	0.012319	0	0
ZNF142	7701	broad.mit.edu	37	2	219513463	219513463	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:219513463G>A	ENST00000411696.2	-	5	1947	c.1168C>T	c.(1168-1170)Cat>Tat	p.H390Y	ZNF142_ENST00000449707.1_Missense_Mutation_p.H390Y			P52746	ZN142_HUMAN	zinc finger protein 142	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTGCCTACATGATCCTGGTAA	0.537000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	36					0	0	0.002450	0	0
ROBO2	6092	broad.mit.edu	37	3	77571938	77571938	+	Silent	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr3:77571938A>G	ENST00000461745.1	+	6	1719	c.819A>G	c.(817-819)aaA>aaG	p.K273K	ROBO2_ENST00000487694.3_Silent_p.K289K|ROBO2_ENST00000332191.8_Silent_p.K273K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	273	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGACATCAAAGACGATTACA	0.328000													19	67					0	0	0.008871	0	0
BSN	8927	broad.mit.edu	37	3	49694806	49694806	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr3:49694806G>A	ENST00000296452.4	+	5	7931	c.7817G>A	c.(7816-7818)cGg>cAg	p.R2606Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2606	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGGCACGGCGGAGTGCTGAC	0.652000													9	36					0	0	0.008291	0	0
NUP210L	91181	broad.mit.edu	37	1	154098919	154098919	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:154098919G>C	ENST00000368559.3	-	10	1277	c.1206C>G	c.(1204-1206)gaC>gaG	p.D402E	NUP210L_ENST00000271854.3_Missense_Mutation_p.D402E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	402						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCTTAGGAAAGTCGTATGTAA	0.388000													26	53					0	0	0.006320	0	0
NFAM1	150372	broad.mit.edu	37	22	42807592	42807592	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr22:42807592C>T	ENST00000329021.5	-	2	309	c.272G>A	c.(271-273)aGg>aAg	p.R91K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	91	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						CTTAGGGCTCCTCTGTCCCTG	0.542000													19	62					0	0	0.008871	0	0
CLCN1	1180	broad.mit.edu	37	7	143020446	143020446	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:143020446C>A	ENST00000343257.2	+	6	828	c.741C>A	c.(739-741)agC>agA	p.S247R	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	247					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTGTCCTCAGCAAATTCATGT	0.602000													20	63					1.2644e-06	1.46337e-06	0.010504	1	0
PCDHB16	57717	broad.mit.edu	37	5	140562501	140562501	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:140562501G>T	ENST00000361016.2	+	1	1522	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		123	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAACTGAGGGTGATAGATAT	0.413000													25	37					7.92952e-12	1.06349e-11	0.003954	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47241448	47241448	+	Splice_Site	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr17:47241448A>G	ENST00000300404.2	+	8	1005		c.e8-1		B4GALNT2_ENST00000393354.2_Splice_Site|B4GALNT2_ENST00000504681.1_Splice_Site	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2						lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTTCTGCCCAGAGAGGAAGC	0.498000													34	101					0	0	0.003271	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078188	90078188	+	RNA	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:90078188G>T	ENST00000390270.2	+	0	322																											CATCCAGCAGGGCCACTGGCA	0.567000													23	71					1.10923e-09	1.38959e-09	0.002780	1	0
ZNF831	128611	broad.mit.edu	37	20	57766579	57766579	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr20:57766579G>T	ENST00000371030.2	+	1	505	c.505G>T	c.(505-507)Gag>Tag	p.E169*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	169						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACACGGGTGAGAGGCCCTT	0.612000													48	85					8.72198e-27	1.39064e-26	0.014410	1	0
FBXO38	81545	broad.mit.edu	37	5	147795497	147795497	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:147795497C>T	ENST00000340253.5	+	11	1439	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	FBXO38_ENST00000513826.1_Missense_Mutation_p.S424L|FBXO38_ENST00000394370.3_Missense_Mutation_p.S424L|FBXO38_ENST00000296701.6_Missense_Mutation_p.S424L			Q6PIJ6	FBX38_HUMAN	F-box protein 38	424						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACCACTCAAGATGGACT	0.383000													18	43					0	0	0.007413	0	0
RYR2	6262	broad.mit.edu	37	1	237965171	237965171	+	Silent	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:237965171T>C	ENST00000366574.2	+	98	14423	c.14106T>C	c.(14104-14106)gaT>gaC	p.D4702D	RYR2_ENST00000360064.6_Silent_p.D4708D|RYR2_ENST00000542537.1_Silent_p.D4686D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4702					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCCATTGATGTGAAGTATC	0.393000													13	20					0	0	0.003163	0	0
SMG5	23381	broad.mit.edu	37	1	156228861	156228861	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:156228861A>T	ENST00000361813.5	-	16	2521	c.2377T>A	c.(2377-2379)Ttc>Atc	p.F793I	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	793					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ATGCTGACGAAGATGCCAACC	0.607000													15	50					0	0	0.002450	0	0
OR1L3	26735	broad.mit.edu	37	9	125437962	125437962	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:125437962T>A	ENST00000304820.2	+	1	648	c.554T>A	c.(553-555)cTg>cAg	p.L185Q		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AACCCTGTGCTGAAACTGTCC	0.443000													48	143					0	0	0.014410	0	0
CKAP5	9793	broad.mit.edu	37	11	46792440	46792440	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:46792440T>G	ENST00000529230.1	-	25	3130	c.3084A>C	c.(3082-3084)gaA>gaC	p.E1028D	CKAP5_ENST00000415402.1_Missense_Mutation_p.E1028D|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1028D|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1028D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1028					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CATTTCGATCTTCTAGGCAGG	0.468000													38	86					0	0	0.006999	0	0
ZNF536	9745	broad.mit.edu	37	19	31048065	31048065	+	Splice_Site	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr19:31048065T>A	ENST00000355537.3	+	5	4044	c.3895_splice	c.e5-1	p.G1299_splice		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCTTGCAGGTAAGTGACACT	0.458000													47	127					0	0	0.014410	0	0
INADL	10207	broad.mit.edu	37	1	62231976	62231976	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:62231976C>A	ENST00000371158.2	+	4	329	c.215C>A	c.(214-216)tCa>tAa	p.S72*	INADL_ENST00000316485.6_Nonsense_Mutation_p.S72*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	72					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCAGATTGTTCAGCCAACTTT	0.338000													10	57					1.58986e-06	1.82155e-06	0.008291	1	0
NRXN3	9369	broad.mit.edu	37	14	80130221	80130221	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr14:80130221G>T	ENST00000281127.7	+	3	1409	c.530G>T	c.(529-531)cGc>cTc	p.R177L	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.R177L|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.R177L|NRXN3_ENST00000554719.1_Missense_Mutation_p.R809L|NRXN3_ENST00000335750.5_Missense_Mutation_p.R809L	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	177	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATGTGGTACGCTTCACCAGG	0.493000													15	61					1.52009e-12	2.06298e-12	0.003163	1	0
SPAG5	10615	broad.mit.edu	37	17	26918733	26918733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr17:26918733C>T	ENST00000321765.5	-	4	1752	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	474					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGAGATGTGTCAGTCTGTGTG	0.552000													12	121					0	0	0.001855	0	0
INHBB	3625	broad.mit.edu	37	2	121104187	121104187	+	Silent	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:121104187C>T	ENST00000295228.3	+	1	469	c.423C>T	c.(421-423)tcC>tcT	p.S141S		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	141					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				AGCGCGTTTCCGAAATCATCA	0.726000													6	8					0	0	0.001984	0	0
XIRP2	129446	broad.mit.edu	37	2	167760015	167760015	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:167760015C>A	ENST00000409195.1	+	2	112	c.23C>A	c.(22-24)tCc>tAc	p.S8Y	XIRP2_ENST00000295237.9_Missense_Mutation_p.S8Y|XIRP2_ENST00000420519.1_Missense_Mutation_p.S8Y|XIRP2_ENST00000409728.1_Missense_Mutation_p.S8Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.S8Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.S8Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGAAGGGCTCCCTCAACCTC	0.468000													17	50					0.00074312	0.000784405	0.006122	1	0
C5orf56	441108	broad.mit.edu	37	5	131796387	131796387	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:131796387G>T	ENST00000337752.2	+	4	353	c.222G>T	c.(220-222)tgG>tgT	p.W74C	C5orf56_ENST00000378953.4_Intron|C5orf56_ENST00000407797.1_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	74										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						caagattctggaaagaaatgt	0.493000													52	109					3.31993e-32	5.44563e-32	0.014410	1	0
DCAF11	80344	broad.mit.edu	37	14	24586552	24586552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr14:24586552G>A	ENST00000396936.1	+	3	582	c.126G>A	c.(124-126)tgG>tgA	p.W42*	DCAF11_ENST00000559115.1_Missense_Mutation_p.G121R|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396941.4_Missense_Mutation_p.G95R|DCAF11_ENST00000446197.3_Missense_Mutation_p.G121R			Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	148						CUL4 RING ubiquitin ligase complex	protein binding										AGGGCAGCTGGGGCTTAGGCG	0.592000													15	46					0	0	0.003163	0	0
CPB1	1360	broad.mit.edu	37	3	148577614	148577614	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr3:148577614G>A	ENST00000491148.1	+	12	1413	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_Missense_Mutation_p.G360E|CPB1_ENST00000498639.1_3'UTR			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	360					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCTGCTGCTGGGGGCTCTGAC	0.408000													20	50					0	0	0.010504	0	0
PWP2	5822	broad.mit.edu	37	21	45544509	45544509	+	Silent	SNP	G	G	A	rs145034831	byFrequency	TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr21:45544509G>A	ENST00000291576.7	+	15	1993	c.1866G>A	c.(1864-1866)gcG>gcA	p.A622A		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	622						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCATCCTGGCGGGAGGCATGT	0.587000													21	60					0	0	0.014323	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649900	232649900	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:232649900C>T	ENST00000366630.1	-	2	1544	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D396N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	396					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCACCCTCATCGGCATCCAGG	0.547000													62	147					0	0	0.014410	0	0
CDON	50937	broad.mit.edu	37	11	125871721	125871721	+	Missense_Mutation	SNP	G	G	T	rs145983470	byFrequency	TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:125871721G>T	ENST00000392693.3	-	11	2178	c.2051C>A	c.(2050-2052)aCc>aAc	p.T684N	CDON_ENST00000263577.7_Missense_Mutation_p.T684N|CDON_ENST00000531738.1_Missense_Mutation_p.T61N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	684					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.T684I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGATGCCTGGGTGTTTTTTGA	0.393000													18	29					3.52763e-06	3.98168e-06	0.004990	1	0
KGFLP2	654466	broad.mit.edu	37	9	41962620	41962620	+	RNA	SNP	G	G	A	rs137865170	by1000genomes	TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:41962620G>A	ENST00000454645.1	-	0	884					NR_003670.1																						TCCTCTTACAGGAATCCCCTT	0.363000													4	46					0	0	0.001168	0	0
TIMD4	91937	broad.mit.edu	37	5	156375476	156375476	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:156375476G>A	ENST00000274532.2	-	5	851	c.795C>T	c.(793-795)caC>caT	p.H265H	TIMD4_ENST00000407087.3_Intron	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	265	Ser-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACATTGACACGTGGGATGTTG	0.378000													9	37					0	0	0.010729	0	0
AP3S1	1176	broad.mit.edu	37	5	115202398	115202398	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:115202398A>T	ENST00000316788.7	+	2	658	c.101A>T	c.(100-102)gAg>gTg	p.E34V		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	34					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		ATCATCAGGGAGACTTTCCAT	0.303000													27	34					0	0	0.012213	0	0
CYFIP2	26999	broad.mit.edu	37	5	156766100	156766100	+	Silent	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:156766100G>T	ENST00000347377.6	+	22	2852	c.2421G>T	c.(2419-2421)acG>acT	p.T807T	CYFIP2_ENST00000442283.2_Silent_p.T92T|CYFIP2_ENST00000435847.2_Silent_p.T506T|CYFIP2_ENST00000522463.1_Silent_p.T611T|CYFIP2_ENST00000521420.1_Silent_p.T781T|CYFIP2_ENST00000541131.1_Silent_p.T732T|CYFIP2_ENST00000377576.3_Silent_p.T807T|CYFIP2_ENST00000318218.6_Silent_p.T832T	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	832					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCGGCTCACGCATCGGCTGC	0.537000													8	36					5.18039e-06	5.76161e-06	0.003080	1	0
DOCK2	1794	broad.mit.edu	37	5	169502961	169502961	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:169502961T>C	ENST00000256935.8	+	47	4819	c.4739T>C	c.(4738-4740)tTg>tCg	p.L1580S	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1072S|DOCK2_ENST00000540750.1_Missense_Mutation_p.L641S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1580	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCCCTTCTTGGGAGCTGGG	0.527000													78	139					0	0	0.014410	0	0
LIPI	149998	broad.mit.edu	37	21	15537574	15537574	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr21:15537574A>T	ENST00000344577.2	-	6	959	c.934T>A	c.(934-936)Tgt>Agt	p.C312S	LIPI_ENST00000536861.1_Missense_Mutation_p.C291S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	291					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCCTTAAAACAGTCACAGTCC	0.313000													10	25					0	0	0.010729	0	0
SALL1	6299	broad.mit.edu	37	16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	rs139646526	byFrequency	TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr16:51175661T>C	ENST00000440970.1	-	2	612	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgctgctgctgctgctg	0.632000													4	79					0	0	0.000602	0	0
FN1	2335	broad.mit.edu	37	2	216247049	216247049	+	Splice_Site	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:216247049C>T	ENST00000354785.4	-	32	5420		c.e32-1		FN1_ENST00000356005.4_Splice_Site|FN1_ENST00000345488.5_Splice_Site|FN1_ENST00000346544.3_Splice_Site|FN1_ENST00000336916.4_Splice_Site|FN1_ENST00000446046.1_Splice_Site|FN1_ENST00000443816.1_Splice_Site|FN1_ENST00000490833.1_Splice_Site|FN1_ENST00000432072.2_Splice_Site|FN1_ENST00000421182.1_Splice_Site|FN1_ENST00000359671.1_Splice_Site|FN1_ENST00000357867.4_Splice_Site|FN1_ENST00000323926.6_Splice_Site|FN1_ENST00000357009.2_Splice_Site			P02751	FINC_HUMAN	fibronectin 1						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGTTTGATCTGCAAAGGGA	0.453000													11	36					0	0	0.008291	0	0
LRP4	4038	broad.mit.edu	37	11	46907942	46907942	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:46907942G>A	ENST00000378623.1	-	17	2600	c.2358C>T	c.(2356-2358)caC>caT	p.H786H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	786					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCAGTACACGTGGTCATCCC	0.582000													6	30					0	0	0.001168	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634687	70634687	+	Silent	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr14:70634687A>G	ENST00000381269.2	-	2	1206	c.453T>C	c.(451-453)tcT>tcC	p.S151S	SLC8A3_ENST00000356921.2_Silent_p.S151S|SLC8A3_ENST00000528359.1_Silent_p.S151S|SLC8A3_ENST00000534137.1_Silent_p.S151S|SLC8A3_ENST00000357887.3_Silent_p.S151S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	151					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTCAATTAAAGAGAGGAGTA	0.488000													16	68					0	0	0.004007	0	0
PSIP1	11168	broad.mit.edu	37	9	15506585	15506585	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr9:15506585G>A	ENST00000380733.4	-	3	466	c.123C>T	c.(121-123)ccC>ccT	p.P41P	PSIP1_ENST00000380738.4_Silent_p.P41P|PSIP1_ENST00000380715.1_Silent_p.P41P|PSIP1_ENST00000380716.4_Silent_p.P41P|PSIP1_ENST00000397519.2_Silent_p.P41P|PSIP1_ENST00000484265.1_5'UTR			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	41	PWWP.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AAAAGAAAATGGGTAGTTTGT	0.348000													11	51					0	0	0.010729	0	0
OR8U1	219417	broad.mit.edu	37	11	56143253	56143253	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:56143253G>T	ENST00000302270.1	+	1	154	c.154G>T	c.(154-156)Gat>Tat	p.D52Y		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CATTAGAGCGGATACAAGTCT	0.418000													33	151					7.11191e-15	1.00094e-14	0.013726	1	0
SPEG	10290	broad.mit.edu	37	2	220346372	220346372	+	Silent	SNP	A	A	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr2:220346372A>T	ENST00000312358.7	+	28	5667	c.5535A>T	c.(5533-5535)gcA>gcT	p.A1845A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1845	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GACCTACCGCAGAAGAGACCC	0.448000													7	37					0	0	0.003080	0	0
USP13	8975	broad.mit.edu	37	3	179437822	179437822	+	Splice_Site	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr3:179437822G>T	ENST00000263966.3	+	7	1371	c.900_splice	c.e7+1	p.G300_splice	USP13_ENST00000496897.1_Splice_Site_p.G235_splice|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	300					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			ATATGCATGGGGTGAGGTCTC	0.418000													12	36					5.50884e-06	6.09716e-06	0.013537	1	0
KLHL3	26249	broad.mit.edu	37	5	136974696	136974696	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:136974696C>A	ENST00000508657.1	-	10	1783	c.1069G>T	c.(1069-1071)Gca>Tca	p.A357S	KLHL3_ENST00000309755.4_Missense_Mutation_p.A389S|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Missense_Mutation_p.A307S	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	389						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGCACCGCTGCGCCCAGTGTG	0.592000													12	20					2.27111e-07	2.66914e-07	0.013537	1	0
CHTOP	26097	broad.mit.edu	37	1	153615780	153615780	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:153615780G>T	ENST00000368694.3	+	5	793	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	CHTOP_ENST00000368690.3_Intron|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368686.1_3'UTR|CHTOP_ENST00000368687.1_Missense_Mutation_p.G136C|CHTOP_ENST00000403433.1_Intron	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	161	Arg/Gly-rich.|Interaction with PRMT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AGGTCGTGGAGGTCCTGGGAG	0.577000													56	173					4.17463e-26	6.60983e-26	0.014410	1	0
SPEF2	79925	broad.mit.edu	37	5	35776446	35776446	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:35776446A>G	ENST00000440995.2	+	29	4151	c.4151A>G	c.(4150-4152)tAt>tGt	p.Y1384C	SPEF2_ENST00000356031.3_Missense_Mutation_p.Y1389C|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1389					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTGATGTATATAAACTCATG	0.343000													25	58					0	0	0.006320	0	0
ZNF77	58492	broad.mit.edu	37	19	2933768	2933768	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr19:2933768C>G	ENST00000314531.4	-	4	1449	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCACATGCTCTCGAAGGGAG	0.507000													24	42					0	0	0.004656	0	0
OR2A5	393046	broad.mit.edu	37	7	143748153	143748153	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:143748153G>A	ENST00000408906.2	+	1	693	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTACTCGCGCATCCTGGCG	0.607000													48	161					0	0	0.014410	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025692	16025692	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr19:16025692G>T	ENST00000326742.7	-	9	1130	c.1129C>A	c.(1129-1131)Cag>Aag	p.Q377K	CYP4F11_ENST00000402119.3_Missense_Mutation_p.Q377K|CYP4F11_ENST00000248041.7_Missense_Mutation_p.Q377K			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	377					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAGGGCAGCTGGGCCAGGTCG	0.537000													33	96					2.20262e-25	3.46343e-25	0.013726	1	0
S1PR1	1901	broad.mit.edu	37	1	101705375	101705375	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:101705375G>T	ENST00000305352.6	+	2	1210	c.835G>T	c.(835-837)Gat>Tat	p.D279Y		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	279					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCCTGCTGGATGTGGGCTG	0.567000													65	175					3.79397e-19	5.72864e-19	0.014410	1	0
TNKS	8658	broad.mit.edu	37	8	9413594	9413594	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:9413594A>G	ENST00000310430.6	+	1	171	c.145A>G	c.(145-147)Acg>Gcg	p.T49A	TNKS_ENST00000522110.1_Missense_Mutation_p.T49A|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.T49A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	49					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.T49A(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGCCTCTCCCACGGCCAGCGG	0.776000													3	40					0	0	0.004672	0	0
DSG3	1830	broad.mit.edu	37	18	29049194	29049194	+	Silent	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr18:29049194C>T	ENST00000257189.4	+	12	1862	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	593					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAACAGGGGCATCTGTGGAA	0.577000													5	102					0	0	0.000602	0	0
TNR	7143	broad.mit.edu	37	1	175375733	175375733	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:175375733C>G	ENST00000367674.1	-	3	826	c.118G>C	c.(118-120)Gtc>Ctc	p.V40L	TNR_ENST00000263525.2_Missense_Mutation_p.V40L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	40					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTCTCTGGACCCTTTCTGTG	0.507000													53	145					0	0	0.014410	0	0
MARCH1	55016	broad.mit.edu	37	4	164534479	164534479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:164534479G>T	ENST00000503008.1	-	5	1205	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	MARCH1_ENST00000514618.1_Missense_Mutation_p.Q77K|MARCH1_ENST00000274056.7_Missense_Mutation_p.Q77K|MARCH1_ENST00000339875.5_Missense_Mutation_p.Q60K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	77					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q60K(1)|p.Q77K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGATGTCCTGAGTGGATGGA	0.428000													23	53					2.79863e-10	3.6255e-10	0.004656	1	0
OR4D6	219983	broad.mit.edu	37	11	59224535	59224535	+	Silent	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:59224535G>A	ENST00000300127.2	+	1	125	c.102G>A	c.(100-102)gtG>gtA	p.V34V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTTTGCTGTGTATGTAGCAA	0.458000													44	83					0	0	0.010771	0	0
PRDM9	56979	broad.mit.edu	37	5	23522469	23522469	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:23522469C>T	ENST00000296682.3	+	7	747	c.565C>T	c.(565-567)Cat>Tat	p.H189Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	189					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGAAAGGGTCATGCATACAA	0.463000										HNSCC(3;0.000094)			70	139					0	0	0.014410	0	0
TSIX	9383	broad.mit.edu	37	X	73046730	73046730	+	RNA	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:73046730C>A	ENST00000604411.1	+	0	34691				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGTCCTGTCCCAGGTCTTAAG	0.502000													37	20					9.04072e-19	1.3385e-18	0.003271	1	0
PIGA	5277	broad.mit.edu	37	X	15339751	15339751	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:15339751C>G	ENST00000333590.4	-	6	1416	c.1332G>C	c.(1330-1332)tgG>tgC	p.W444C	PIGA_ENST00000542278.1_Missense_Mutation_p.W210C|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.W129C	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	444					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CTGGAGTCATCCATCTCAAGA	0.448000													55	42					0	0	0.014410	0	0
NAA16	79612	broad.mit.edu	37	13	41933009	41933009	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr13:41933009G>A	ENST00000379406.3	+	12	1645	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	NAA16_ENST00000379367.3_Missense_Mutation_p.D441N	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	441					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GGACACAGCTGATAGATTCAT	0.358000													25	71					0	0	0.002780	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	46					0	0	0.009096	0	0
CFHR1	3078	broad.mit.edu	37	1	196799765	196799765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:196799765G>T	ENST00000320493.5	+	5	831	c.743G>T	c.(742-744)cGa>cTa	p.R248L	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.R189L	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	248	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GGTAACAAGCGAATAACATGT	0.403000													8	29					5.18039e-06	5.76161e-06	0.003080	1	0
ZNF716	441234	broad.mit.edu	37	7	57510015	57510015	+	Silent	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:57510015C>T	ENST00000420713.1	+	1	133	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GACCGGGACCCCCTGGAAGCC	0.567000													18	45					0	0	0.006122	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261132	134261132	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr7:134261132G>T	ENST00000457545.2	+	9	1035	c.775G>T	c.(775-777)Gat>Tat	p.D259Y	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D231Y	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	259							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CCTGCTGGAGGATCCCAAGAT	0.463000													14	44					2.31682e-05	2.55186e-05	0.003163	1	0
POU2F1	5451	broad.mit.edu	37	1	167367302	167367302	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:167367302C>T	ENST00000367862.5	+	11	1403	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	POU2F1_ENST00000420254.3_Missense_Mutation_p.R378C|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401C|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338C|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378C	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	378					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGCTTGAGCCGTAGGAGGAA	0.463000													8	45					0	0	0.006214	0	0
CDHR2	54825	broad.mit.edu	37	5	176011684	176011684	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr5:176011684T>A	ENST00000510636.1	+	19	2676	c.2402T>A	c.(2401-2403)gTg>gAg	p.V801E	CDHR2_ENST00000261944.5_Missense_Mutation_p.V801E|CDHR2_ENST00000506348.1_Missense_Mutation_p.V801E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	801	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGAAAGACGTGAACGACAAT	0.592000													57	132					0	0	0.014410	0	0
ITPR1	3708	broad.mit.edu	37	3	4725425	4725425	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr3:4725425G>T	ENST00000302640.8	+	27	3746	c.3396G>T	c.(3394-3396)caG>caT	p.Q1132H	ITPR1_ENST00000456211.2_Missense_Mutation_p.Q1123H|ITPR1_ENST00000443694.2_Missense_Mutation_p.Q1132H|ITPR1_ENST00000354582.6_Missense_Mutation_p.Q1147H|ITPR1_ENST00000423119.2_Missense_Mutation_p.Q1138H|ITPR1_ENST00000357086.4_Missense_Mutation_p.Q1138H|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1147					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACAAAGGGCAGGGCCCCGATG	0.468000													18	57					3.41278e-10	4.32286e-10	0.004990	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651747	84651747	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr15:84651747C>A	ENST00000286744.5	+	21	3591	c.3367C>A	c.(3367-3369)Cag>Aag	p.Q1123K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q1123K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1123						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGATATATCAGCTGGTGGC	0.537000													17	65					1.15088e-07	1.36667e-07	0.004007	1	0
CNKSR2	22866	broad.mit.edu	37	X	21613104	21613104	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:21613104G>C	ENST00000425654.2	+	15	2233	c.1753G>C	c.(1753-1755)Gaa>Caa	p.E585Q	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E615Q|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E566Q|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E615Q	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	615	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGAAAAAGCAGAAGGATTCAT	0.353000													5	6					0	0	0.001168	0	0
ZC3H14	79882	broad.mit.edu	37	14	89044337	89044337	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr14:89044337A>C	ENST00000251038.5	+	9	1357	c.1132A>C	c.(1132-1134)Aaa>Caa	p.K378Q	ZC3H14_ENST00000393514.5_Missense_Mutation_p.K378Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.K344Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.K344Q|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000302216.8_Missense_Mutation_p.K378Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.K223Q|ZC3H14_ENST00000556945.1_Missense_Mutation_p.K378Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.K378Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	378						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGTTCCACAGAAACAGACACT	0.408000													19	70					0	0	0.008871	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421119	134421119	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chrX:134421119G>T	ENST00000370766.3	-	7	4192	c.1483C>A	c.(1483-1485)Cac>Aac	p.H495N	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.H400N	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	495					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTTTCTGGTGTCTAAGAAGG	0.433000													31	31					3.69857e-22	5.69779e-22	0.008361	1	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864160	31864160	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr21:31864160C>T	ENST00000334063.4	-	1	115	c.116G>A	c.(115-117)tGt>tAt	p.C39Y		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	39						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						TCCATAGCCACAGCCAGAACC	0.572000													73	237					0	0	0.014410	0	0
ELF3	1999	broad.mit.edu	37	1	201981157	201981164	+	Frame_Shift_Del	DEL	AAGTGGAG	AAGTGGAG	-			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:201981157_201981164delAAGTGGAG	ENST00000359651.3	+	2	3428_3435	c.236_243delAAGTGGAG	c.(235-243)cfs	p.QVE79fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.QVE79fs|ELF3_ENST00000367284.5_Frame_Shift_Del_p.QVE79fs|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	79	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ATCAGCTACCAAGTGGAGAAGAACAAGT	0.572													14	163	---	---	---	---					
OR2T7	81458	broad.mit.edu	37	1	248604776	248604776	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr1:248604776delC	ENST00000460972.3	+	1	269	c.269delC	c.(268-270)gcfs	p.A90fs						olfactory receptor, family 2, subfamily T, member 7																		GGATGCACTGCCCAACACTTC	0.522													8	57	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815896	+	RNA	DEL	AA	AA	-	rs145239076		TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr4:19815895_19815896delAA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaaa	0.411													2	4	---	---	---	---					
SYNCRIP	10492	broad.mit.edu	37	6	86350039	86350040	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr6:86350039_86350040insTT	ENST00000355238.6	-	4	480_481	c.274_275insAA	c.(274-276)tgcfs	p.C92fs	SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.C92fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	92					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TAAAAAGGCACTTTTGTTCTGC	0.317													23	41	---	---	---	---					
SLC7A13	157724	broad.mit.edu	37	8	87229978	87229978	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:87229978delA	ENST00000297524.3	-	3	1003	c.900delT	c.(898-900)ttfs	p.F300fs	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.F291fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	300						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAAGGTTGCTAAATAATGAGG	0.373													81	84	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													4	6	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													7	79	---	---	---	---					
MAP2K1	5604	broad.mit.edu	37	15	66729094	66729099	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-			TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr15:66729094_66729099delTGGAGA	ENST00000307102.5	+	3	833_838	c.302_307delTGGAGA	c.(301-309)ctc>c	p.LEI101del		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	101	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTAATTCATCTGGAGATCAAACCCGC	0.447													12	43	---	---	---	---					
LINC00482	284185	broad.mit.edu	37	17	79279019	79279020	+	RNA	INS	-	-	C	rs3215153	by1000genomes	TCGA-55-7227-01A-11D-2036-08	TCGA-55-7227-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d92901e-34d0-4df2-8d9a-a6af8558c322	495f1a73-d117-4713-b39a-7517acf0ac19	g.chr17:79279019_79279020insC	ENST00000332012.5	-	0	573_574					NR_038080.1																						CCCAGGCACAGCCCCTGAGGCA	0.673													9	5	---	---	---	---					
