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
SLC8A3	6547	broad.mit.edu	37	14	70634453	70634453	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:70634453G>A	ENST00000381269.2	-	2	1440	c.687C>T	c.(685-687)gtC>gtT	p.V229V	SLC8A3_ENST00000357887.3_Silent_p.V229V|SLC8A3_ENST00000534137.1_Silent_p.V229V|SLC8A3_ENST00000356921.2_Silent_p.V229V|SLC8A3_ENST00000528359.1_Silent_p.V229V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	229					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)		CCCAAACCTGGACCACACCAG	0.493000													4	34					0	0	0.00116845	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010765	73010765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:73010765G>A	ENST00000313375.3	-	12	1914	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S	MLXIPL_ENST00000414749.2_Missense_Mutation_p.P623S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P530S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P623S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P529S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P623S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	623					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGTCCCAGGGCCTGGCATG	0.657000													10	61					0	0	0.000978159	0	0
DPEP1	1800	broad.mit.edu	37	16	89703005	89703005	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:89703005C>T	ENST00000393092.3	+	5	726	c.435C>T	c.(433-435)tcC>tcT	p.S145S	DPEP1_ENST00000261615.4_Silent_p.S145S|DPEP1_ENST00000421184.1_Silent_p.S145S	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	145					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCGGCCACTCCATTGACAGCA	0.672000													7	73					0	0	0.000274275	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058021	46058021	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr21:46058021C>T	ENST00000380095.1	+	1	749	c.687C>T	c.(685-687)ctC>ctT	p.L229L	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	229						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GTGTTTCCCTCCTCTGCCGCC	0.682000													9	77					0	0	0.000274275	0	0
IREB2	3658	broad.mit.edu	37	15	78780592	78780592	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:78780592G>A	ENST00000258886.8	+	15	2014	c.1865G>A	c.(1864-1866)cGt>cAt	p.R622H		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	622							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GATTGTGTTCGTGCCAATTAT	0.378000													11	100					0	0	0.000673444	0	0
BTBD11	121551	broad.mit.edu	37	12	108011150	108011150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:108011150G>A	ENST00000280758.5	+	9	2696	c.2168G>A	c.(2167-2169)gGa>gAa	p.G723E	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.G723E|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Missense_Mutation_p.G260E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	723						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TACAGGAATGGAATTTCTACA	0.532000													18	94					0	0	0.000566183	0	0
ADCY8	114	broad.mit.edu	37	8	132052058	132052058	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:132052058G>A	ENST00000286355.5	-	1	2614	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ADCY8_ENST00000377928.3_Silent_p.F174F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	174					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.F174L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTTGGCCCAAGAAATAGCGCT	0.547000										HNSCC(32;0.087)			6	55					0	0	0.00116845	0	0
TAAR6	319100	broad.mit.edu	37	6	132891983	132891983	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:132891983G>A	ENST00000275198.1	+	1	523	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	175						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGTCTATGACGATGGGCTGGA	0.458000													11	172					0	0	0.000151284	0	0
MYH15	22989	broad.mit.edu	37	3	108147413	108147413	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:108147413C>T	ENST00000273353.3	-	28	3744	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1230						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGTCTTTTTCCAGTTTCTGC	0.488000													12	121					0	0	0.000219431	0	0
GAREM	64762	broad.mit.edu	37	18	29848148	29848148	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:29848148T>C	ENST00000399218.4	-	6	2369	c.2314A>G	c.(2314-2316)Atg>Gtg	p.M772V	GAREM_ENST00000269209.6_Missense_Mutation_p.M773V	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		ATGTCCTGCATGCCCTTTTTA	0.547000													7	64					0	0	0.000157383	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167832	130167832	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:130167832C>T	ENST00000373371.3	+	9	1373	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	SLC2A8_ENST00000373352.1_Silent_p.F165F|SLC2A8_ENST00000373360.3_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	428						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CCAAGGAGTTCAGCAGCCTCA	0.567000													6	48					0	0	0.000157383	0	0
A1CF	29974	broad.mit.edu	37	10	52575824	52575824	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:52575824G>A	ENST00000395489.2	-	11	1458	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000373997.3_Silent_p.F361F|A1CF_ENST00000395495.1_Silent_p.F306F|A1CF_ENST00000373995.3_Silent_p.F369F|A1CF_ENST00000373993.1_Silent_p.F361F|A1CF_ENST00000374001.1_Silent_p.F361F|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.F361F	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	361					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGGTGGCTGGGAAATGAAGAC	0.488000													18	60					0	0	0.000958276	0	0
GALNT12	79695	broad.mit.edu	37	9	101597623	101597623	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:101597623G>A	ENST00000375011.3	+	5	1010	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	337	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTTTGGGGAGGAGAAAACCTC	0.398000													13	123					0	0	0.000308642	0	0
WFS1	7466	broad.mit.edu	37	4	6303256	6303256	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:6303256C>T	ENST00000226760.1	+	8	1904	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	WFS1_ENST00000503569.1_Silent_p.A578A	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	578					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGGCCTGGCCCTGGTGGGCG	0.662000													59	421					0	0	0.000781405	0	0
EPHA7	2045	broad.mit.edu	37	6	93967960	93967960	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:93967960C>T	ENST00000369303.4	-	11	2151	c.1967G>A	c.(1966-1968)gGg>gAg	p.G656E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCTCTTTTCCCTGGAAGTTT	0.383000													8	85					0	0	0.000157383	0	0
DNAH3	55567	broad.mit.edu	37	16	21136651	21136651	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:21136651C>T	ENST00000261383.3	-	9	1248	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E417K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	417	Stem (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)		ATCCAGTGCTCCTTCCGTGAG	0.498000													7	91					0	0	0.000274275	0	0
PTCD3	55037	broad.mit.edu	37	2	86344204	86344204	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:86344204C>T	ENST00000254630.7	+	6	402	c.336C>T	c.(334-336)tcC>tcT	p.S112S	PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Silent_p.S112S	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	112						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CAAAGAAATCCGGGGAGAATG	0.328000													4	37					0	0	0.00024832	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762043	23762043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:23762043C>T	ENST00000397312.2	-	2	464	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ELAVL2_ENST00000544538.1_Missense_Mutation_p.E64K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.E93K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.E64K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.E64K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	64	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GACTCTATTTCACCAATGCTC	0.388000													7	32					0	0	0.000274275	0	0
VN1R2	317701	broad.mit.edu	37	19	53762333	53762333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:53762333G>A	ENST00000341702.3	+	1	789	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	235					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTGGCAAATGGAGCAACAACA	0.423000													15	73					0	0	0.000219431	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221661	67221661	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:67221661C>T	ENST00000314586.6	-	5	747	c.507G>A	c.(505-507)ctG>ctA	p.L169L	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	169	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCAGCTGCTCCAGCTCCCGAA	0.597000													14	100					0	0	0.000219431	0	0
NAGPA	51172	broad.mit.edu	37	16	5075593	5075593	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:5075593C>G	ENST00000312251.3	-	10	1453	c.1434G>C	c.(1432-1434)agG>agC	p.R478S	NAGPA_ENST00000381955.3_Missense_Mutation_p.R444S|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	478					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCGCCGGTTCCTCTCTGCTC	0.652000													10	69					0	0	0.000442599	0	0
PLXND1	23129	broad.mit.edu	37	3	129304873	129304873	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:129304873G>A	ENST00000393239.1	-	5	1951	c.1773C>T	c.(1771-1773)acC>acT	p.T591T	PLXND1_ENST00000324093.4_Silent_p.T591T			Q9Y4D7	PLXD1_HUMAN	plexin D1	591					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGCTGGCACTGGTCCAGAAAT	0.657000													32	117					0	0	0.000692331	0	0
HRNR	388697	broad.mit.edu	37	1	152192792	152192792	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:152192792C>T	ENST00000368801.2	-	3	1388	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	438					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGCCGGAGCTGGGAGACTG	0.617000													8	91					0	0	0.000274275	0	0
AQP9	366	broad.mit.edu	37	15	58430789	58430789	+	Missense_Mutation	SNP	G	G	A	rs150714814		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:58430789G>A	ENST00000219919.4	+	1	395	c.25G>A	c.(25-27)Gga>Aga	p.G9R	AQP9_ENST00000558772.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.G9R|AQP9_ENST00000559443.1_3'UTR|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	9					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGCAGAAAAGGGAAAAAGCTT	0.473000													6	67					0	0	0.00116845	0	0
IPO9	55705	broad.mit.edu	37	1	201825035	201825035	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:201825035C>T	ENST00000361565.4	+	10	1164	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	365					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATTATATTATCCTGTACATGC	0.343000													10	77					0	0	0.000151284	0	0
IGLV5-52	28779	broad.mit.edu	37	22	22673457	22673457	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:22673457C>T	ENST00000390289.2	+	0	255				LL22NC03-80A10.6_ENST00000426066.1_RNA																							CTCTGGAGTTCCCAGCCGCTT	0.542000													9	81					0	0	0.000274275	0	0
DMBT1	1755	broad.mit.edu	37	10	124390648	124390648	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:124390648G>A	ENST00000338354.3	+	46	5916	c.5810G>A	c.(5809-5811)gGa>gAa	p.G1937E	DMBT1_ENST00000330163.4_Missense_Mutation_p.G1309E|DMBT1_ENST00000359586.6_Missense_Mutation_p.G657E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1927E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1927E|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1309E|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1937E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1937	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCTTGGAAATGCATAT	0.582000													11	57					0	0	0.000673444	0	0
DCTN5	84516	broad.mit.edu	37	16	23677033	23677033	+	Silent	SNP	C	C	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:23677033C>A	ENST00000300087.2	+	5	586	c.435C>A	c.(433-435)gtC>gtA	p.V145V	DCTN5_ENST00000563998.1_Silent_p.V145V|DCTN5_ENST00000568589.1_Silent_p.V145V	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	145						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CATTCACTGTCTTCTCAGGCT	0.403000													6	93					0.000274275	0.00226146	0.000274275	1	0
CFI	3426	broad.mit.edu	37	4	110687842	110687842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:110687842G>A	ENST00000394634.2	-	2	403	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	CFI_ENST00000394635.3_Nonsense_Mutation_p.Q66*|CFI_ENST00000512148.1_Nonsense_Mutation_p.Q66*|CFI_ENST00000510800.1_Nonsense_Mutation_p.Q66*	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	66	Kazal-like.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTGGGCACTGATACGGTAGT	0.453000													6	65					0	0	8.12818e-05	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:13029765G>A	ENST00000399002.2	+	2	564	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000													6	38					0	0	8.12818e-05	0	0
INSRR	3645	broad.mit.edu	37	1	156813018	156813018	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:156813018G>A	ENST00000368195.3	-	17	3300	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	968					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCATCAGGGACATACACTG	0.567000													6	25					0	0	8.12818e-05	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307762	46307762	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:46307762G>A	ENST00000221538.3	-	3	1543	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	RSPH6A_ENST00000600188.1_Silent_p.V203V|RSPH6A_ENST00000597055.1_Silent_p.V467V	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	467						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTAGCTGACGACTGGCGTGT	0.657000													13	89					0	0	0.000151284	0	0
TAF7	6879	broad.mit.edu	37	5	140699461	140699461	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140699461C>T	ENST00000313368.5	-	1	869	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	51					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGACGCCCATCAGGATGT	0.458000													13	87					0	0	0.000151284	0	0
DCHS2	54798	broad.mit.edu	37	4	155219058	155219058	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:155219058C>T	ENST00000357232.3	-	18	5042	c.5043G>A	c.(5041-5043)aaG>aaA	p.K1681K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1681	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAAGGAAATCTTTACATCTT	0.453000													5	44					0	0	0.000602214	0	0
TTLL6	284076	broad.mit.edu	37	17	46847099	46847099	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:46847099T>G	ENST00000393382.3	-	14	2542	c.2401A>C	c.(2401-2403)Aac>Cac	p.N801H	TTLL6_ENST00000433608.2_Missense_Mutation_p.N494H	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	753						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.N479D(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CGTGACAGGTTATTCATCCCC	0.522000													18	70					0	0	0.000958276	0	0
ADAM28	10863	broad.mit.edu	37	8	24187570	24187570	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:24187570C>T	ENST00000265769.4	+	11	1155	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.H349Y|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.H116Y|ADAM28_ENST00000397649.3_Missense_Mutation_p.H96Y	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	349	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.H349Y(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGAATGTTTCATGACGACTA	0.458000													5	40					0	0	0.000602214	0	0
TLL2	7093	broad.mit.edu	37	10	98170121	98170121	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:98170121C>T	ENST00000357947.3	-	9	1384	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	387	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTACCTTTTCCCCTGGGGTG	0.522000													8	35					0	0	0.000978159	0	0
SNTG1	54212	broad.mit.edu	37	8	51705281	51705281	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:51705281C>T	ENST00000522124.1	+	19	2107	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	SNTG1_ENST00000518864.1_Silent_p.F482F|SNTG1_ENST00000276467.5_Silent_p.F445F|SNTG1_ENST00000517473.1_Silent_p.F445F	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	482					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCATTCCTTCTTTGCTGCCA	0.388000													6	50					0	0	8.12818e-05	0	0
OR2A7	401427	broad.mit.edu	37	7	143956685	143956685	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:143956685G>A	ENST00000493325.1	-	1	130	c.37C>T	c.(37-39)Cta>Tta	p.L13L	RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AATCCCAGTAGGAGGAACTCT	0.473000													8	260					0	0	0.000673444	0	0
KCNC2	3747	broad.mit.edu	37	12	75441996	75441996	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:75441996C>T	ENST00000549446.1	-	4	2397	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	KCNC2_ENST00000550433.1_Missense_Mutation_p.E573K|KCNC2_ENST00000341669.3_Missense_Mutation_p.E573K|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Missense_Mutation_p.E573K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E573K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E573K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	573					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAACATGTTTCCCCTCTTCTG	0.483000													4	48					0	0	0.00116845	0	0
DSP	1832	broad.mit.edu	37	6	7583007	7583007	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:7583007C>T	ENST00000379802.3	+	24	5853	c.5512C>T	c.(5512-5514)Cgt>Tgt	p.R1838C	DSP_ENST00000418664.2_Missense_Mutation_p.R1239C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1838	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.R1838C(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAGCTGAATCGTGCAAAATC	0.483000													17	161					0	0	0.000958276	0	0
OR2T1	26696	broad.mit.edu	37	1	248570111	248570111	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248570111G>A	ENST00000366474.1	+	1	816	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCGAATCCTGACTACAGTTC	0.517000													16	59					0	0	0.00074312	0	0
BCMO1	53630	broad.mit.edu	37	16	81303947	81303947	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:81303947G>A	ENST00000258168.2	+	7	1488	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	BCMO1_ENST00000425577.2_Missense_Mutation_p.D274N	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	343					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CCTGAACCAGGACTTCAAGGA	0.577000													14	74					0	0	0.000219431	0	0
DNAH7	56171	broad.mit.edu	37	2	196651813	196651813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:196651813C>T	ENST00000312428.6	-	58	10899	c.10799G>A	c.(10798-10800)tGg>tAg	p.W3600*	DNAH7_ENST00000409063.1_Nonsense_Mutation_p.W83*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3600	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGAATATTCCACCCTAGGGG	0.403000													10	76					0	0	0.000978159	0	0
CFB	629	broad.mit.edu	37	6	31905185	31905185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:31905185G>A	ENST00000456570.1	+	5	674	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	CFB_ENST00000477310.1_Missense_Mutation_p.E178K|C2_ENST00000299367.5_Missense_Mutation_p.E360K|C2_ENST00000452323.2_Missense_Mutation_p.E146K|C2_ENST00000442278.2_Missense_Mutation_p.E228K|CFB_ENST00000556679.1_Missense_Mutation_p.E207K|C2_ENST00000469372.1_Missense_Mutation_p.E114K			P00751	CFAB_HUMAN	complement factor B	373	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTCGGCATGGAAACGATGGC	0.488000													70	604					0	0	0.000781405	0	0
H3F3C	440093	broad.mit.edu	37	12	31944884	31944884	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:31944884C>T	ENST00000340398.3	-	1	291	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	73					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TGCGCGATCTCCCTCACCAAC	0.597000										HNSCC(67;0.2)			7	85					0	0	0.000157383	0	0
USP42	84132	broad.mit.edu	37	7	6196551	6196551	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:6196551T>C	ENST00000306177.5	+	16	3966	c.3808T>C	c.(3808-3810)Ttc>Ctc	p.F1270L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1270					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGTCGCCCAGTTCCGGAGAGC	0.512000													6	29					0	0	8.12818e-05	0	0
CRX	1406	broad.mit.edu	37	19	48342936	48342936	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:48342936C>T	ENST00000221996.7	+	4	818	c.612C>T	c.(610-612)tcC>tcT	p.S204S	CRX_ENST00000539067.1_Silent_p.S204S|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	204					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCTGCTCTTCCCCCTCCGCCT	0.677000													10	72					0	0	0.000442599	0	0
KRT34	3885	broad.mit.edu	37	17	39537398	39537398	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:39537398C>T	ENST00000394001.1	-	3	654	c.624G>A	c.(622-624)ctG>ctA	p.L208L		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	208	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCAGCTCATCCAGGATCCTGC	0.557000													6	76					0	0	0.00116845	0	0
STAT3	6774	broad.mit.edu	37	17	40474352	40474352	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:40474352G>A	ENST00000264657.5	-	21	2361	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F	STAT3_ENST00000588969.1_Silent_p.F683F|STAT3_ENST00000389272.3_Silent_p.F585F|STAT3_ENST00000585517.1_Silent_p.F683F|STAT3_ENST00000404395.3_Silent_p.F683F	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	683					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.F683L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATACTTTCCGAATGCCTCCT	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome				15	120					0	0	0.000422831	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240661	1240661	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:1240661G>A	ENST00000324642.3	+	7	984	c.861G>A	c.(859-861)aaG>aaA	p.K287K	SLC6A18_ENST00000296821.4_Silent_p.K282K	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	287					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTGCCAGAAGGATGCGGTGG	0.577000													5	59					0	0	0.00116845	0	0
RP1	6101	broad.mit.edu	37	8	55540803	55540803	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55540803G>A	ENST00000220676.1	+	4	4509	c.4361G>A	c.(4360-4362)aGc>aAc	p.S1454N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1454					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACCAACAGCATGACATCA	0.358000													5	38					0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9065721	9065721	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9065721G>A	ENST00000397910.4	-	3	21928	c.21725C>T	c.(21724-21726)tCc>tTc	p.S7242F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7244	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCAGGGAGGAAATTGACTC	0.468000													18	146					0	0	0.000566183	0	0
MAP9	79884	broad.mit.edu	37	4	156294382	156294382	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:156294382G>A	ENST00000311277.4	-	4	650	c.387C>T	c.(385-387)ttC>ttT	p.F129F	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Silent_p.F129F|MAP9_ENST00000379248.2_Silent_p.F57F	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	129					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GAGATTCAGAGAAAGATTTTA	0.338000													8	89					0	0	0.000157383	0	0
TMEM55A	55529	broad.mit.edu	37	8	92032399	92032399	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:92032399G>A	ENST00000285419.3	-	3	662	c.348C>T	c.(346-348)tgC>tgT	p.C116C		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	116						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGGGTCTTGGGCATCCTATTC	0.383000													11	44					0	0	0.000308642	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531337	140531337	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140531337C>T	ENST00000231136.1	+	1	1499	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S364F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		500	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCTCTTCCCTGGTCTCC	0.652000													23	150					0	0	0.000227799	0	0
CACNA1E	777	broad.mit.edu	37	1	181725156	181725156	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:181725156G>A	ENST00000526775.1	+	28	4162	c.3997G>A	c.(3997-3999)Gaa>Aaa	p.E1333K	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1284K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E959K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1352K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1352K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1303K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1333K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1352					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGCGCCATGAATTCCACTA	0.498000													7	37					0	0	8.12818e-05	0	0
RBM28	55131	broad.mit.edu	37	7	127970892	127970892	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:127970892G>A	ENST00000223073.1	-	10	1223	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	RBM28_ENST00000415472.2_Missense_Mutation_p.P229L	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	370	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTCTGTGTCTGGATGCAAGAC	0.468000													11	75					0	0	0.00010058	0	0
MPP7	143098	broad.mit.edu	37	10	28347533	28347533	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:28347533C>T	ENST00000337532.5	-	16	1575		c.e16-1		MPP7_ENST00000375719.3_Splice_Site|MPP7_ENST00000375732.1_Splice_Site|MPP7_ENST00000445954.2_Splice_Site|MPP7_ENST00000540098.1_Splice_Site	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)						establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTCAATAAACCTGTAAAAAAT	0.313000													14	113					0	0	0.000151284	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			32	130					0	0	0.000953801	0	0
TOMM40L	84134	broad.mit.edu	37	1	161197992	161197992	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:161197992C>T	ENST00000367988.3	+	7	770	c.501C>T	c.(499-501)caC>caT	p.H167H	TOMM40L_ENST00000545897.1_Silent_p.H133H|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Silent_p.H167H	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	167					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGTTGCTCACTTCCTGCAGA	0.577000											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	53					0	0	0.000673444	0	0
CCDC63	160762	broad.mit.edu	37	12	111330918	111330918	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:111330918C>T	ENST00000308208.5	+	9	1355	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	CCDC63_ENST00000545036.1_Silent_p.S331S|CCDC63_ENST00000552694.1_Silent_p.S292S	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	371										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAAATTGTCCCACGATGACA	0.562000													11	99					0	0	0.000219431	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714163	32714163	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:32714163C>T	ENST00000374940.3	+	4	862	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	254					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACACCAAGGGCTCTTATGAAT	0.532000													10	124					0	0	0.000673444	0	0
LCP2	3937	broad.mit.edu	37	5	169702336	169702336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:169702336G>A	ENST00000046794.5	-	5	889	c.274C>T	c.(274-276)Cct>Tct	p.P92S		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	92					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GTCTCTTCAGGAAACCGCGGG	0.493000													8	76					0	0	0.000673444	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141445257	141445257	+	Silent	SNP	G	G	A	rs138528079	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:141445257G>A	ENST00000389328.4	-	4	1121	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	TRAPPC9_ENST00000389327.3_Silent_p.F271F|TRAPPC9_ENST00000438773.2_Silent_p.F271F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	271					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGCTGCCCTGGAACCTCCGAG	0.527000													18	108					0	0	0.00121646	0	0
MUC16	94025	broad.mit.edu	37	19	9087495	9087495	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9087495C>T	ENST00000397910.4	-	1	4523	c.4320G>A	c.(4318-4320)ggG>ggA	p.G1440G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1440	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGGGTTCCCCTGGGACAT	0.522000													10	74					0	0	0.000442599	0	0
CNTN2	6900	broad.mit.edu	37	1	205034331	205034331	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:205034331C>T	ENST00000331830.4	+	13	1920	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	546	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTGGACCCTGGACGACTT	0.587000													13	150					0	0	0.000958276	0	0
YLPM1	56252	broad.mit.edu	37	14	75248574	75248574	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:75248574C>T	ENST00000325680.7	+	4	1952	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	YLPM1_ENST00000552421.1_Missense_Mutation_p.L610F|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCACCATCTCTCTCTTCAAC	0.587000													13	68					0	0	0.00010058	0	0
ITGA5	3678	broad.mit.edu	37	12	54797093	54797093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:54797093G>A	ENST00000293379.4	-	18	2053	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	598					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGTTTGTCTCGAAATTCTGAC	0.572000													20	164					0	0	0.000295444	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71491667	71491667	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:71491667G>A	ENST00000265382.3	+	6	580	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.R92Q	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	92	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTAGCATTCCGATATTTCAGA	0.373000													10	62					0	0	0.000442599	0	0
HGF	3082	broad.mit.edu	37	7	81372765	81372765	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:81372765C>T	ENST00000222390.5	-	7	995	c.769G>A	c.(769-771)Gat>Aat	p.D257N	HGF_ENST00000444829.2_Missense_Mutation_p.D257N|HGF_ENST00000453411.1_Missense_Mutation_p.D252N|HGF_ENST00000457544.2_Missense_Mutation_p.D252N	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	257	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAATAATTATCATCAAAGCCC	0.488000													11	47					0	0	0.000978159	0	0
ZNF461	92283	broad.mit.edu	37	19	37129927	37129927	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:37129927G>A	ENST00000588268.1	-	6	1547	c.1320C>T	c.(1318-1320)ccC>ccT	p.P440P	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Silent_p.P417P	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACACTCATAGGGTTTCTCAC	0.398000													6	54					0	0	0.000157383	0	0
SRGAP3	9901	broad.mit.edu	37	3	9068638	9068638	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:9068638G>A	ENST00000383836.3	-	13	2008	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.I503I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	527	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGATGTAACGGATGCAGCTCT	0.423000			T	RAF1	pilocytic astrocytoma								37	141					0	0	0.000781405	0	0
PROM1	8842	broad.mit.edu	37	4	15987392	15987392	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:15987392G>A	ENST00000505450.1	-	21	2856	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	PROM1_ENST00000539194.1_Silent_p.I757I|PROM1_ENST00000540805.1_Silent_p.I757I|PROM1_ENST00000447510.2_Silent_p.I757I|PROM1_ENST00000510224.1_Silent_p.I757I|PROM1_ENST00000508167.1_Silent_p.I748I|PROM1_ENST00000543373.1_Silent_p.I748I	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	757					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CAGAGAACTCGATCCACTGCA	0.323000													4	21					0	0	0.000602214	0	0
TCN1	6947	broad.mit.edu	37	11	59622251	59622251	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:59622251G>A	ENST00000257264.3	-	7	1099	c.995C>T	c.(994-996)tCa>tTa	p.S332L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	332					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGATATATGATTGTGAGTC	0.413000													10	56					0	0	0.000673444	0	0
PPARD	5467	broad.mit.edu	37	6	35392547	35392547	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:35392547C>T	ENST00000311565.4	+	8	1418	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	PPARD_ENST00000448077.2_Silent_p.L318L|PPARD_ENST00000360694.3_Silent_p.L357L|PPARD_ENST00000337400.2_Silent_p.L357L|PPARD_ENST00000418635.2_Silent_p.L259L|PPARD_ENST00000444397.1_Silent_p.L357L|PPARD_ENST00000540939.1_Silent_p.L254L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	357	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGCCATCATTCTGTGTGGAGG	0.557000													5	51					0	0	0.00116845	0	0
A2ML1	144568	broad.mit.edu	37	12	8982357	8982357	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:8982357C>T	ENST00000299698.7	+	4	624	c.444C>T	c.(442-444)ttC>ttT	p.F148F	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATAGCAACTTCGTTCCAGTGA	0.458000													8	91					0	0	0.000157383	0	0
SPEG	10290	broad.mit.edu	37	2	220354184	220354184	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:220354184C>T	ENST00000312358.7	+	36	8576	c.8444C>T	c.(8443-8445)cCg>cTg	p.P2815L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2815	Pro-rich.				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)		CCCACACCCCCGTCAGTCACT	0.667000													5	37					0	0	8.12818e-05	0	0
SCN5A	6331	broad.mit.edu	37	3	38592248	38592248	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38592248T>C	ENST00000413689.1	-	28	5808	c.5615A>G	c.(5614-5616)aAg>aGg	p.K1872R	SCN5A_ENST00000414099.2_Missense_Mutation_p.K1854R|SCN5A_ENST00000455624.2_Missense_Mutation_p.K1839R|SCN5A_ENST00000451551.2_Missense_Mutation_p.K1818R|SCN5A_ENST00000333535.4_Missense_Mutation_p.K1872R|SCN5A_ENST00000450102.2_Missense_Mutation_p.K1818R|SCN5A_ENST00000449557.2_Missense_Mutation_p.K1818R|SCN5A_ENST00000443581.1_Missense_Mutation_p.K1871R|SCN5A_ENST00000425664.1_Missense_Mutation_p.K1854R|SCN5A_ENST00000423572.2_Missense_Mutation_p.K1871R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1872					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATCTGGATCTTCAGGGCGTC	0.587000													8	157					0	0	0.000274275	0	0
PLXND1	23129	broad.mit.edu	37	3	129286547	129286547	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:129286547G>A	ENST00000393239.1	-	21	4145	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PLXND1_ENST00000324093.4_Missense_Mutation_p.R1323C			Q9Y4D7	PLXD1_HUMAN	plexin D1	1323					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTACCTTTGCGGATTTCCTCT	0.612000													7	28					0	0	0.000157383	0	0
TRPC4	7223	broad.mit.edu	37	13	38211475	38211475	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:38211475C>T	ENST00000379705.3	-	11	3356	c.2499G>A	c.(2497-2499)caG>caA	p.Q833Q	TRPC4_ENST00000379681.3_Silent_p.Q838Q|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Silent_p.Q660Q|TRPC4_ENST00000338947.5_Silent_p.Q660Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	833	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACTTTTCTCTGCTTCTCCC	0.443000													5	32					0	0	0.000602214	0	0
TTC14	151613	broad.mit.edu	37	3	180322051	180322051	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:180322051C>T	ENST00000412756.2	+	4	594	c.525C>T	c.(523-525)aaC>aaT	p.N175N	TTC14_ENST00000296015.4_Silent_p.N175N|TTC14_ENST00000382584.4_Silent_p.N175N	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	175	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCACAGTAACCATGGGGATC	0.338000													12	68					0	0	0.000151284	0	0
ATP2B4	493	broad.mit.edu	37	1	203689718	203689718	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:203689718C>T	ENST00000357681.5	+	16	3571	c.2448C>T	c.(2446-2448)atC>atT	p.I816I	ATP2B4_ENST00000367219.3_Silent_p.I804I|ATP2B4_ENST00000341360.2_Silent_p.I816I|ATP2B4_ENST00000391954.2_Silent_p.I816I|ATP2B4_ENST00000367218.3_Silent_p.I816I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	816					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCAGACATCATCCTAACAG	0.507000													10	42					0	0	0.00010058	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108092	151108092	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:151108092C>T	ENST00000341697.3	-	14	3099	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	470	Sema.					integral to membrane	receptor activity	p.E470Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602000													12	131					0	0	0.000219431	0	0
CDH10	1008	broad.mit.edu	37	5	24537681	24537681	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:24537681G>A	ENST00000264463.4	-	3	841	c.334C>T	c.(334-336)Cat>Tat	p.H112Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H112Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGTGGCATGAATATCACCT	0.403000										HNSCC(23;0.051)			6	39					0	0	8.12818e-05	0	0
GPR50	9248	broad.mit.edu	37	X	150349133	150349133	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:150349133G>A	ENST00000218316.3	+	2	1147	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	360	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTGGAGGAAACCCCGAT	0.632000													25	57					0	0	0.000878237	0	0
SORL1	6653	broad.mit.edu	37	11	121495921	121495921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:121495921G>A	ENST00000260197.7	+	46	6428	c.6299G>A	c.(6298-6300)aGa>aAa	p.R2100K	SORL1_ENST00000525532.1_Missense_Mutation_p.R1044K|SORL1_ENST00000527934.1_Missense_Mutation_p.R715K|SORL1_ENST00000534286.1_Missense_Mutation_p.R1010K|SORL1_ENST00000532694.1_Missense_Mutation_p.R946K	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2100	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCCAAGCAAGATGCCTTTTT	0.473000													6	126					0	0	8.12818e-05	0	0
STAP2	55620	broad.mit.edu	37	19	4333715	4333715	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:4333715G>A	ENST00000600324.1	-	3	340	c.273C>T	c.(271-273)ctC>ctT	p.L91L	STAP2_ENST00000594605.1_Silent_p.L91L	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	91	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGATCCCGGAGAATCAGGC	0.552000													6	46					0	0	0.00116845	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482012	123482012	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:123482012G>A	ENST00000280562.5	-	10	1537	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	PITPNM2_ENST00000392428.1_Silent_p.S165S|PITPNM2_ENST00000320201.4_Silent_p.S444S|PITPNM2_ENST00000542749.1_Silent_p.S444S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	444					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGCCCTTCTTGGAGCTGGGGT	0.667000													13	113					0	0	0.000151284	0	0
LRP1B	53353	broad.mit.edu	37	2	141299440	141299440	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:141299440T>C	ENST00000389484.3	-	44	8266	c.7295A>G	c.(7294-7296)aAc>aGc	p.N2432S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2432					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGTACTTGTTGGACCGCAG	0.428000										TSP Lung(27;0.18)			5	59					0	0	0.000602214	0	0
LAMA2	3908	broad.mit.edu	37	6	129835527	129835527	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:129835527C>T	ENST00000421865.2	+	64	9047	c.8998C>T	c.(8998-9000)Cat>Tat	p.H3000Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3000	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTTGATGTTTCATGTGGACAA	0.423000													5	36					0	0	0.000602214	0	0
TARBP1	6894	broad.mit.edu	37	1	234596109	234596109	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:234596109G>A	ENST00000040877.1	-	7	1432	c.1433C>T	c.(1432-1434)aCa>aTa	p.T478I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	478					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)			ATGCCTACTTGTCATCTTCCG	0.388000													6	52					0	0	8.12818e-05	0	0
ELMOD2	255520	broad.mit.edu	37	4	141456968	141456968	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:141456968C>T	ENST00000323570.3	+	4	385	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	85					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GAATATTAACCCTGAGAAGGA	0.333000													4	35					0	0	0.00024832	0	0
HTR2A	3356	broad.mit.edu	37	13	47466724	47466724	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:47466724C>T	ENST00000378688.4	-	2	545	c.412_splice	c.e2-1	p.G138_splice	HTR2A_ENST00000542664.1_Splice_Site_p.G138_splice|HTR2A_ENST00000543956.1_Splice_Site_p.W54_splice			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	138					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCACCGGTACCCTATGAGGC	0.572000													4	45					0	0	0.00024832	0	0
MARCO	8685	broad.mit.edu	37	2	119726833	119726833	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:119726833C>T	ENST00000327097.4	+	2	330	c.195C>T	c.(193-195)gtC>gtT	p.V65V	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	65					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGCTGGTGGTCCAAGGTAAAG	0.602000													10	47					0	0	0.000442599	0	0
ERBB4	2066	broad.mit.edu	37	2	212251634	212251634	+	Missense_Mutation	SNP	C	C	T	rs3748961		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:212251634C>T	ENST00000342788.4	-	27	3735	c.3425G>A	c.(3424-3426)cGa>cAa	p.R1142Q	ERBB4_ENST00000402597.1_Missense_Mutation_p.R1132Q|ERBB4_ENST00000436443.1_Missense_Mutation_p.R1126Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1142					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGCTCTCCTCGTGGGCTCCG	0.537000										TSP Lung(8;0.080)			10	74					0	0	0.00010058	0	0
YEATS2	55689	broad.mit.edu	37	3	183521850	183521850	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:183521850C>T	ENST00000305135.5	+	27	3853	c.3658C>T	c.(3658-3660)Ccc>Tcc	p.P1220S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1220					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACCTGACTCCCCTCAAAAC	0.488000													24	75					0	0	0.00047179	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439761	150439761	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:150439761G>A	ENST00000358647.3	+	3	901	c.534G>A	c.(532-534)cgG>cgA	p.R178R	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTGGTGCGGGAGTGTGAGA	0.572000													10	129					0	0	0.000151284	0	0
LLGL2	3993	broad.mit.edu	37	17	73567141	73567141	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:73567141C>T	ENST00000392550.3	+	17	2253	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	LLGL2_ENST00000577200.1_Silent_p.F712F|LLGL2_ENST00000167462.5_Silent_p.F712F	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	712					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCACAGGCTTCGTCCGGACCC	0.652000													28	126					0	0	0.000279167	0	0
XKR4	114786	broad.mit.edu	37	8	56436647	56436647	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:56436647C>T	ENST00000327381.5	+	3	1914	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	605						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AATAGGTACCCAGCATGGGAG	0.488000													7	73					0	0	8.12818e-05	0	0
ST18	9705	broad.mit.edu	37	8	53085075	53085075	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:53085075C>T	ENST00000276480.7	-	10	1029	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TATCTGTCTTCCTTCCTACTG	0.343000													7	44					0	0	8.12818e-05	0	0
AKAP9	10142	broad.mit.edu	37	7	91715708	91715708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:91715708T>A	ENST00000359028.2	+	37	9428	c.9203T>A	c.(9202-9204)tTg>tAg	p.L3068*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.L3064*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.L3014*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3068					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTAAACTGTTTGGAACAGAGA	0.333000			T	BRAF	papillary thyroid								18	218					0	0	0.000958276	0	0
FRS3	10817	broad.mit.edu	37	6	41738529	41738529	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:41738529G>A	ENST00000373018.3	-	7	1558	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	FRS3_ENST00000259748.2_Missense_Mutation_p.P436L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	436					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGGCTCGAGGGGTTCTGGGG	0.652000													17	106					0	0	0.000958276	0	0
CACNA1C	775	broad.mit.edu	37	12	2764372	2764372	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:2764372G>C	ENST00000399655.1	+	34	4465	c.4200G>C	c.(4198-4200)caG>caC	p.Q1400H	CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1389H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1428H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1420H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1425H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1389H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1417H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1422H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q1448H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1400H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1387H	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	1448					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)	ACAACTTTCAGACCTTCCCCC	0.522000													4	18					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179454489	179454489	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179454489C>T	ENST00000589042.1	-	304	62187	c.61963G>A	c.(61963-61965)Gaa>Aaa	p.E20655K	TTN_ENST00000359218.5_Missense_Mutation_p.E11715K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18087K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11782K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11590K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19014K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19014							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)			GTTTTTGTTTCGATGGTTGGC	0.393000													13	127					0	0	0.000219431	0	0
RP1	6101	broad.mit.edu	37	8	55540068	55540068	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55540068C>T	ENST00000220676.1	+	4	3774	c.3626C>T	c.(3625-3627)tCt>tTt	p.S1209F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1209					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAGATCTTTCTGCAAATTGT	0.433000													14	76					0	0	0.000219431	0	0
INO80	54617	broad.mit.edu	37	15	41340454	41340454	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:41340454G>A	ENST00000361937.3	-	22	3021	c.2597C>T	c.(2596-2598)cCa>cTa	p.P866L	INO80_ENST00000401393.3_Missense_Mutation_p.P866L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	866	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGTGCAAATGGAGAAAGAAC	0.383000													19	139					0	0	0.000295444	0	0
BLZF1	8548	broad.mit.edu	37	1	169346025	169346025	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:169346025C>T	ENST00000367808.3	+	3	699	c.276C>T	c.(274-276)atC>atT	p.I92I	BLZF1_ENST00000367807.3_Silent_p.I92I|BLZF1_ENST00000329281.2_Silent_p.I92I			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	92					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CTCATGATATCCCCAACAAAA	0.403000													4	40					0	0	0.00024832	0	0
HACE1	57531	broad.mit.edu	37	6	105232044	105232044	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:105232044G>A	ENST00000262903.4	-	14	1759	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	HACE1_ENST00000369125.2_Missense_Mutation_p.P495S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	495					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATAATTTTGGGATTTCTAAAA	0.308000													5	56					0	0	0.000602214	0	0
DPP6	1804	broad.mit.edu	37	7	154561201	154561201	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:154561201G>A	ENST00000404039.1	+	9	1353	c.766G>A	c.(766-768)Gat>Aat	p.D256N	DPP6_ENST00000332007.3_Missense_Mutation_p.D258N|DPP6_ENST00000427557.1_Missense_Mutation_p.D213N|DPP6_ENST00000377770.3_Missense_Mutation_p.D320N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	320					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGCCATCAATGATTCCCGTGT	0.547000													9	50					0	0	0.000673444	0	0
CR1	1378	broad.mit.edu	37	1	207680090	207680090	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:207680090G>A	ENST00000367049.4	+	3	333	c.333G>A	c.(331-333)gtG>gtA	p.V111V	CR1_ENST00000367053.1_Silent_p.V111V|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Silent_p.V111V|CR1_ENST00000367051.1_Silent_p.V111V|CR1_ENST00000400960.2_Silent_p.V111V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	111	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGATCCTGTGAATGGCATGG	0.383000													6	88					0	0	0.00116845	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714531	138714531	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:138714531G>A	ENST00000389532.4	-	11	2040	c.1976C>T	c.(1975-1977)cCc>cTc	p.P659L	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P381L|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P670L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	659						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGCCCATGGGGAATTCTGA	0.597000													5	46					0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179612743	179612743	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179612743G>A	ENST00000360870.5	-	46	14606	c.14384C>T	c.(14383-14385)cCa>cTa	p.P4795L	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	904	Ig-like 28.						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)			ATCCTGCTTTGGAAATGCTGC	0.468000													4	14					0	0	0.00024832	0	0
GUCA2A	2980	broad.mit.edu	37	1	42628607	42628607	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:42628607G>A	ENST00000357001.2	-	3	323	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	106					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTAGGCACAGATTTCACATG	0.627000													13	49					0	0	0.000308642	0	0
FKBP11	51303	broad.mit.edu	37	12	49315984	49315984	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:49315984G>A	ENST00000550765.1	-	6	787	c.388_splice	c.e6-1	p.A130_splice	AC073610.5_ENST00000537495.1_Splice_Site_p.N56_splice|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_Splice_Site_p.A28_splice|ARF3_ENST00000398092.4_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	130	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						CACTGCATCCGCTGGAGAGGC	0.532000													12	57					0	0	0.000219431	0	0
TRAV4	28689	broad.mit.edu	37	14	22205078	22205078	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:22205078G>A	ENST00000390426.2	+	0	209																											TGCTACAAATGATTATATCAC	0.423000													8	64					0	0	0.000157383	0	0
RGS7	6000	broad.mit.edu	37	1	240975321	240975321	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:240975321C>T	ENST00000366565.1	-	14	1360	c.979G>A	c.(979-981)Gta>Ata	p.V327I	RGS7_ENST00000366563.1_Missense_Mutation_p.V327I|RGS7_ENST00000446183.2_Missense_Mutation_p.V243I|RGS7_ENST00000401882.1_Missense_Mutation_p.V274I|RGS7_ENST00000366562.4_Missense_Mutation_p.V327I|RGS7_ENST00000348120.2_Missense_Mutation_p.V274I|RGS7_ENST00000407727.1_Missense_Mutation_p.V327I|RGS7_ENST00000331110.7_Missense_Mutation_p.V301I|RGS7_ENST00000366564.1_Missense_Mutation_p.V327I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	327					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CATCGTTTTACCCTCTGCTGG	0.388000													6	111					0	0	0.000157383	0	0
CFHR5	81494	broad.mit.edu	37	1	196952150	196952150	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:196952150C>T	ENST00000367414.5	+	2	322	c.266C>T	c.(265-267)tCc>tTc	p.S89F	CFHR5_ENST00000256785.4_Missense_Mutation_p.S65F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	65	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCTTCAAAATCCTTTTGGACT	0.388000													8	64					0	0	0.000274275	0	0
ZBTB5	9925	broad.mit.edu	37	9	37440577	37440577	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:37440577T>A	ENST00000307750.4	-	2	2160	c.1972A>T	c.(1972-1974)Aag>Tag	p.K658*		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TTTGAGTGCTTATACAGGTGG	0.507000													8	63					0	0	0.000274275	0	0
LGI1	9211	broad.mit.edu	37	10	95553074	95553074	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:95553074G>A	ENST00000371418.4	+	7	1065	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	LGI1_ENST00000542308.1_Missense_Mutation_p.E221K|LGI1_ENST00000371413.3_Missense_Mutation_p.E269K	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	269					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGACCATGTGGAAAAGACCTT	0.373000													15	95					0	0	0.000175454	0	0
SOX2	6657	broad.mit.edu	37	3	181431045	181431045	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:181431045G>A	ENST00000325404.1	+	1	1324	c.897G>A	c.(895-897)caG>caA	p.Q299Q	SOX2_ENST00000431565.2_Silent_p.Q299Q	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	299					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			AGCACTACCAGAGCGGCCCGG	0.642000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						4	13					0	0	0.00024832	0	0
AGTR2	186	broad.mit.edu	37	X	115304508	115304508	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:115304508C>T	ENST00000371906.4	+	3	1165	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	325					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GAAACCGGTTCCAACAGAAGC	0.453000													13	34					0	0	0.00010058	0	0
GRID2	2895	broad.mit.edu	37	4	94137913	94137913	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:94137913G>A	ENST00000282020.4	+	6	1072	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	GRID2_ENST00000510992.1_Missense_Mutation_p.E177K|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	272					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACGTACAGGAACTTGTAAG	0.388000													5	69					0	0	0.00116845	0	0
C10orf54	64115	broad.mit.edu	37	10	73511449	73511449	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:73511449C>T	ENST00000394957.3	-	6	932	c.874G>A	c.(874-876)Gga>Aga	p.G292R	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	292						integral to membrane	receptor activity	p.G292R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AAGACGTCTCCGGGGCCTGGA	0.622000													12	47					0	0	0.000219431	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366608	7366608	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:7366608C>T	ENST00000311403.4	-	4	2032	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G565R	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGAGTCCTTCCAGCCCGTGGA	0.701000													6	26					0	0	0.00116845	0	0
TSHR	7253	broad.mit.edu	37	14	81554364	81554364	+	Silent	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:81554364A>G	ENST00000541158.2	+	5	706	c.384A>G	c.(382-384)ctA>ctG	p.L128L	TSHR_ENST00000342443.6_Silent_p.L128L|TSHR_ENST00000554263.1_Silent_p.L128L|TSHR_ENST00000554435.1_Silent_p.L128L|TSHR_ENST00000298171.2_Silent_p.L128L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	128					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCCCCCTCCTAAAGTTCCTGT	0.438000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						10	35					0	0	0.000442599	0	0
MCL1	4170	broad.mit.edu	37	1	150551372	150551372	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:150551372G>A	ENST00000369026.2	-	1	694	c.635C>T	c.(634-636)aCc>aTc	p.T212I	MCL1_ENST00000307940.3_Missense_Mutation_p.T212I	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	212					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGTCGTAAGGTCTCCAGCGC	0.602000													19	82					0	0	0.000175454	0	0
SPNS1	83985	broad.mit.edu	37	16	28993278	28993278	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:28993278C>T	ENST00000311008.11	+	7	1243	c.866C>T	c.(865-867)tCc>tTc	p.S289F	SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000334536.8_Intron|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Missense_Mutation_p.S216F|SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000565975.1_Missense_Mutation_p.S334F	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	289					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCACGGGCTCCCTGGCTCTG	0.622000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	56					0	0	0.000308642	0	0
MORC1	27136	broad.mit.edu	37	3	108778661	108778661	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:108778661C>T	ENST00000232603.5	-	12	1105	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	MORC1_ENST00000483760.1_Silent_p.E341E	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	341					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACCTTTGTTTCTCTTTAAGAT	0.373000													9	36					0	0	0.000673444	0	0
CACNA1S	779	broad.mit.edu	37	1	201009757	201009757	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:201009757G>A	ENST00000362061.3	-	42	5445	c.5219C>T	c.(5218-5220)cCc>cTc	p.P1740L	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1721L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1740					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACCTGGCAGGGGGCAGGAGG	0.612000													22	62					0	0	0.000375601	0	0
COL19A1	1310	broad.mit.edu	37	6	70897825	70897825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:70897825G>A	ENST00000322773.4	+	47	3005	c.2903G>A	c.(2902-2904)gGa>gAa	p.G968E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G590E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	968	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTGAACGGGGAAAACCAGGC	0.527000													5	81					0	0	0.00116845	0	0
HYDIN	54768	broad.mit.edu	37	16	71209610	71209610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:71209610G>A	ENST00000393567.2	-	5	566	c.416C>T	c.(415-417)tCg>tTg	p.S139L	HYDIN_ENST00000321489.5_Missense_Mutation_p.S139L|HYDIN_ENST00000448691.1_Missense_Mutation_p.S139L|HYDIN_ENST00000541601.1_Missense_Mutation_p.S156L|HYDIN_ENST00000393550.2_Missense_Mutation_p.S139L|HYDIN_ENST00000538248.1_Missense_Mutation_p.S166L|HYDIN_ENST00000448089.2_Missense_Mutation_p.S139L|HYDIN_ENST00000288168.10_Missense_Mutation_p.S156L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	139										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGTAAGGCGAACTTTCTTC	0.433000													6	101					0	0	0.000274275	0	0
B4GALT3	8703	broad.mit.edu	37	1	161141693	161141693	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:161141693G>A	ENST00000319769.5	-	8	1317	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.F365F|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	365					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TCTCTTGACGGAAGGCTTGGG	0.612000													7	91					0	0	8.12818e-05	0	0
TENM3	55714	broad.mit.edu	37	4	183603033	183603033	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:183603033C>T	ENST00000511685.1	+	11	2024	c.1901C>T	c.(1900-1902)cCa>cTa	p.P634L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P634L					teneurin transmembrane protein 3																		CACTGCAGTCCAGGATGGGGA	0.473000													4	31					0	0	0.00024832	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716972	222716972	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:222716972G>A	ENST00000343410.6	-	2	939	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	294					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTCCAGGCACGAATAATAAAT	0.468000													120	754					0	0	0.000781405	0	0
C6	729	broad.mit.edu	37	5	41158779	41158779	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:41158779G>A	ENST00000263413.3	-	13	2229	c.1965C>T	c.(1963-1965)atC>atT	p.I655I	C6_ENST00000337836.5_Silent_p.I655I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	655	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCTGACCCGGATAAATCCAT	0.388000													5	30					0	0	0.00116845	0	0
RGS3	5998	broad.mit.edu	37	9	116356350	116356350	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:116356350C>T	ENST00000462403.1	+	1	585	c.151C>T	c.(151-153)Cct>Tct	p.P51S	RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCCTGGTCCCTCCCATTTC	0.622000													16	143					0	0	0.000566183	0	0
ITIH5	80760	broad.mit.edu	37	10	7679332	7679332	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:7679332C>T	ENST00000256861.6	-	5	589	c.511G>A	c.(511-513)Gag>Aag	p.E171K	ITIH5_ENST00000397146.2_Missense_Mutation_p.E171K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.E171K|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	171					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCTGTGCTCGTACTTGCCC	0.592000													7	47					0	0	0.000157383	0	0
POTEF	728378	broad.mit.edu	37	2	130831874	130831874	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:130831874G>A	ENST00000357462.5	-	15	3264	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	POTEF_ENST00000409914.2_Silent_p.I1057I			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1057	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCTGCTTGCTGATCCACATCT	0.532000													11	94					0	0	0.000219431	0	0
OR2M7	391196	broad.mit.edu	37	1	248487187	248487187	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248487187C>T	ENST00000317965.2	-	1	712	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCAGATCCCATGTGAATGA	0.438000													17	180					0	0	0.000422831	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825070	26825070	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:26825070G>A	ENST00000376236.4	+	10	1423	c.968G>A	c.(967-969)gGa>gAa	p.G323E		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	323	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.G323E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AAAGAAGATGGAAAGAAATCC	0.368000													34	178					0	0	0.000692331	0	0
CEP192	55125	broad.mit.edu	37	18	13056565	13056565	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:13056565T>A	ENST00000506447.1	+	19	4056	c.3976T>A	c.(3976-3978)Tct>Act	p.S1326T	CEP192_ENST00000325971.8_Missense_Mutation_p.S730T|CEP192_ENST00000430049.2_Missense_Mutation_p.S851T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	921										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGGGTACCTCTTCCCTCTG	0.468000													18	95					0	0	0.000566183	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425677	74425677	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:74425677C>T	ENST00000429990.1	+	7	1127	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L						nuclear pore complex interacting protein family, member B15																		AAGACTCCTCCcttagctact	0.547000													9	80					0	0	0.000673444	0	0
LILRA1	11024	broad.mit.edu	37	19	55107271	55107271	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:55107271C>T	ENST00000251372.3	+	6	1011	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	277	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCAGGCTGGGCTCTCCCAGGC	0.612000													9	56					0	0	0.000274275	0	0
PLCB2	5330	broad.mit.edu	37	15	40581030	40581030	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:40581030G>A	ENST00000260402.3	-	32	3693	c.3444C>T	c.(3442-3444)acC>acT	p.T1148T	PLCB2_ENST00000557821.1_Silent_p.T1144T|PLCB2_ENST00000456256.2_Silent_p.T1133T	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1148					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGGGAAAGCAGGTCCTGAGGC	0.627000													7	67					0	0	0.000442599	0	0
C12orf54	121273	broad.mit.edu	37	12	48884616	48884616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:48884616C>T	ENST00000314014.2	+	6	321	c.190C>T	c.(190-192)Cga>Tga	p.R64*	C12orf54_ENST00000548364.1_Nonsense_Mutation_p.R64*|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	64										endometrium(1)|large_intestine(4)	5						TGCTCGGATTCGAGGTAAAAC	0.433000													8	110					0	0	0.000442599	0	0
OR8B3	390271	broad.mit.edu	37	11	124266939	124266939	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:124266939G>A	ENST00000354597.3	-	1	325	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAAAGAGAAAGAAAAACAGCT	0.373000													5	23					0	0	8.12818e-05	0	0
MYOM3	127294	broad.mit.edu	37	1	24424448	24424448	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:24424448C>T	ENST00000330966.7	-	7	875	c.713G>A	c.(712-714)gGc>gAc	p.G238D	MYOM3_ENST00000329601.7_Missense_Mutation_p.G237D|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.G237D			Q5VTT5	MYOM3_HUMAN	myomesin 3	237	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGAGGCCTGGCCGTGGGCGTT	0.592000													47	212					0	0	0.000781405	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612490	96612490	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:96612490G>A	ENST00000371321.3	+	9	1374	c.1291_splice	c.e9-1	p.G431_splice	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	431					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTATTTTCAGGAAAACGGATT	0.423000													17	51					0	0	0.000175454	0	0
MECOM	2122	broad.mit.edu	37	3	168810803	168810803	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:168810803C>T	ENST00000464456.1	-	12	3716	c.2516G>A	c.(2515-2517)cGa>cAa	p.R839Q	MECOM_ENST00000392736.3_Missense_Mutation_p.R848Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R849Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R1027Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R848Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R849Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R839Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R913Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.R848L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AATGAAATTTCGAATTTCTGT	0.443000													13	56					0	0	0.00010058	0	0
PTPRK	5796	broad.mit.edu	37	6	128294288	128294288	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:128294288C>T	ENST00000368227.3	-	30	4565	c.4199G>A	c.(4198-4200)cGa>cAa	p.R1400Q	PTPRK_ENST00000368226.4_Missense_Mutation_p.R1383Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1389Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1415Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1405Q|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1382Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1401Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1382	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATGCCACTTCGCCCGCCACC	0.433000													21	80					0	0	0.000295444	0	0
RP1	6101	broad.mit.edu	37	8	55540361	55540361	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55540361G>A	ENST00000220676.1	+	4	4067	c.3919G>A	c.(3919-3921)Gat>Aat	p.D1307N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1307					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCACTTACTGATACTGTGTT	0.428000													19	102					0	0	0.000175454	0	0
PI4KA	5297	broad.mit.edu	37	22	21096604	21096604	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:21096604G>A	ENST00000255882.6	-	32	3739	c.3653C>T	c.(3652-3654)cCc>cTc	p.P1218L	PI4KA_ENST00000572273.1_Missense_Mutation_p.P1160L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1160					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CATCCGGAGGGGACCCCAGCA	0.587000											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	155					0	0	0.000978159	0	0
MS4A2	2206	broad.mit.edu	37	11	59863043	59863043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:59863043C>T	ENST00000278888.3	+	7	751	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	217					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCCAGAGGATCGTGTTTATGA	0.388000													10	40					0	0	0.000673444	0	0
PCED1B	91523	broad.mit.edu	37	12	47629785	47629785	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:47629785C>T	ENST00000546455.1	+	4	1670	c.939C>T	c.(937-939)ctC>ctT	p.L313L	PCED1B_ENST00000432328.1_Silent_p.L313L					PC-esterase domain containing 1B																		tgccgctgctcccgctcctgt	0.627000													10	77					0	0	0.000442599	0	0
ADAM7	8756	broad.mit.edu	37	8	24349489	24349489	+	Missense_Mutation	SNP	C	C	T	rs149854879	by1000genomes	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:24349489C>T	ENST00000175238.6	+	14	1513	c.1430C>T	c.(1429-1431)tCg>tTg	p.S477L	ADAM7_ENST00000380789.1_Missense_Mutation_p.S477L|ADAM7_ENST00000520720.1_Missense_Mutation_p.S249L|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	477	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTGGCCACTCGCCTGCCTGT	0.463000													11	76					0	0	0.000978159	0	0
STK36	27148	broad.mit.edu	37	2	219563458	219563458	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:219563458C>T	ENST00000295709.3	+	26	3470	c.3191C>T	c.(3190-3192)tCg>tTg	p.S1064L	STK36_ENST00000392106.2_Missense_Mutation_p.S1043L|STK36_ENST00000392105.3_Missense_Mutation_p.S1043L|STK36_ENST00000440309.1_Missense_Mutation_p.S1064L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1064					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ACCATCGTCTCGTTTCTCTCA	0.582000													17	173					0	0	0.000175454	0	0
CCDC105	126402	broad.mit.edu	37	19	15124559	15124559	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:15124559G>A	ENST00000292574.3	+	2	728	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	216					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AATGGAGAGAGATATGGAAAA	0.502000													4	21					0	0	0.00116845	0	0
CPA5	93979	broad.mit.edu	37	7	130002292	130002292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:130002292G>A	ENST00000485477.1	+	7	1677	c.548G>A	c.(547-549)gGt>gAt	p.G183D	CPA5_ENST00000355388.3_Missense_Mutation_p.G183D|CPA5_ENST00000474905.1_Missense_Mutation_p.G183D|CPA5_ENST00000466363.2_Missense_Mutation_p.G183D|CPA5_ENST00000461828.1_Missense_Mutation_p.G183D|CPA5_ENST00000431780.2_Missense_Mutation_p.G183D|CPA5_ENST00000393213.3_Missense_Mutation_p.G183D			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	183					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AGCACTGGAGGTTCTCGGCAC	0.557000													6	46					0	0	0.000157383	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004441	44004441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:44004441G>A	ENST00000262726.7	-	22	2855	c.2602C>T	c.(2602-2604)Cga>Tga	p.R868*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.R716*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	868	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.R868*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCCCGGCGTCGAAGAATGCCA	0.438000													8	51					0	0	0.000274275	0	0
HMCN1	83872	broad.mit.edu	37	1	185972948	185972948	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:185972948C>T	ENST00000271588.4	+	29	4676	c.4447C>T	c.(4447-4449)Cct>Tct	p.P1483S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1483S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1483	Ig-like C2-type 12.				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						CACTCCCTTTCCTGATATTCA	0.418000													7	58					0	0	0.000442599	0	0
SORL1	6653	broad.mit.edu	37	11	121448073	121448073	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:121448073G>A	ENST00000260197.7	+	25	3673	c.3544G>A	c.(3544-3546)Gac>Aac	p.D1182N	SORL1_ENST00000525532.1_Missense_Mutation_p.D126N|SORL1_ENST00000534286.1_Missense_Mutation_p.D92N|SORL1_ENST00000532694.1_Missense_Mutation_p.D28N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1182	LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGGGGACAACGACTGCAGGGA	0.532000													10	121					0	0	0.000442599	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178822871	178822871	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:178822871C>T	ENST00000234816.2	-	4	1322	c.875G>A	c.(874-876)gGg>gAg	p.G292E	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G292E|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	292	Fibrinogen C-terminal.					extracellular space	receptor binding	p.G292E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CATATAAATCCCACTGACCGA	0.373000													5	89					0	0	0.000602214	0	0
OR51A7	119687	broad.mit.edu	37	11	4929511	4929511	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:4929511G>A	ENST00000359350.4	+	1	912	c.912G>A	c.(910-912)ggG>ggA	p.G304G	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATCTTGGGGAAGTTGCTTA	0.393000													6	64					0	0	0.000157383	0	0
ACOT12	134526	broad.mit.edu	37	5	80631636	80631636	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:80631636G>A	ENST00000307624.3	-	12	1241	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	405	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GACAAGAGACGATAAGCCAAA	0.348000													12	81					0	0	0.000308642	0	0
WDR11	55717	broad.mit.edu	37	10	122612140	122612140	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:122612140T>C	ENST00000263461.6	+	2	437	c.191T>C	c.(190-192)gTt>gCt	p.V64A		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	64						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAAGCTGATGTTGTAAAGGTA	0.353000													9	33					0	0	0.000442599	0	0
LGR6	59352	broad.mit.edu	37	1	202287252	202287252	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:202287252C>T	ENST00000367278.3	+	18	1910	c.1821C>T	c.(1819-1821)gcC>gcT	p.A607A	LGR6_ENST00000255432.7_Silent_p.A555A|LGR6_ENST00000439764.2_Silent_p.A468A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	607						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TTGCAGGCGCCAACACCTTGA	0.617000													5	64					0	0	0.000602214	0	0
SALL3	27164	broad.mit.edu	37	18	76755016	76755016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:76755016C>T	ENST00000537592.2	+	2	3025	c.3025C>T	c.(3025-3027)Ctc>Ttc	p.L1009F	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGTCTGCGCGCTCTGCAGGCG	0.517000													13	73					0	0	0.00010058	0	0
DEFB116	245930	broad.mit.edu	37	20	29896384	29896384	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:29896384G>A	ENST00000400549.1	-	1	4	c.5C>T	c.(4-6)tCa>tTa	p.S2L		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	2					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTTCATGACTGACATGTTCCA	0.483000													7	71					0	0	0.000157383	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317856	77317856	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:77317856G>A	ENST00000282849.5	-	23	4081	c.3663C>T	c.(3661-3663)atC>atT	p.I1221I	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1221	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACCAAGATCAGATCTTCCTTG	0.512000													7	55					0	0	8.12818e-05	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476955	110476955	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:110476955C>T	ENST00000378402.5	+	49	7998	c.7894C>T	c.(7894-7896)Ccc>Tcc	p.P2632S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2632					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAATATTTCCCCATGCAAAC	0.398000										HNSCC(38;0.096)			13	133					0	0	0.000308642	0	0
MXRA5	25878	broad.mit.edu	37	X	3242165	3242165	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:3242165G>A	ENST00000217939.6	-	5	1715	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	521	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCGCTTTCAGGATGGAGCCA	0.537000													21	33					0	0	0.000175454	0	0
PER2	8864	broad.mit.edu	37	2	239165600	239165600	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:239165600G>A	ENST00000254657.3	-	17	2307	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	676	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCACATGGACGATGGTGCTGC	0.557000											OREG0015336	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	113					0	0	0.00074312	0	0
TENM3	55714	broad.mit.edu	37	4	183609456	183609456	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:183609456G>A	ENST00000511685.1	+	12	2296	c.2173G>A	c.(2173-2175)Ggc>Agc	p.G725S	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G725S					teneurin transmembrane protein 3																		CTGCAAGGATGGCAAGTGTGA	0.612000													6	44					0	0	0.00116845	0	0
CD1B	910	broad.mit.edu	37	1	158300829	158300829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:158300829G>A	ENST00000368168.3	-	2	192	c.85C>T	c.(85-87)Cat>Tat	p.H29Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	29					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGGATAACATGAAAGGAGGTC	0.473000													33	277					0	0	0.000953801	0	0
MUC21	394263	broad.mit.edu	37	6	30955398	30955398	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:30955398C>T	ENST00000376296.3	+	2	1687	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L	MUC21_ENST00000486149.2_Silent_p.L28L	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	482						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AAATCTTCCTCATCACCCTGG	0.562000													7	34					0	0	8.12818e-05	0	0
CDC23	8697	broad.mit.edu	37	5	137534194	137534194	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:137534194G>A	ENST00000394886.2	-	8	881	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	284					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATTAAAAATGGAGAGGGCTTT	0.408000													6	64					0	0	0.00116845	0	0
IGFL2	147920	broad.mit.edu	37	19	46663975	46663975	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:46663975C>T	ENST00000434646.2	+	4	502	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	IGFL2_ENST00000377693.4_Silent_p.L60L|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	60						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		CATCGTGTCCCTGAGCGAGAC	0.567000													30	263					0	0	0.000491102	0	0
ZNF184	7738	broad.mit.edu	37	6	27420976	27420976	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:27420976A>G	ENST00000211936.6	-	6	646	c.362T>C	c.(361-363)cTa>cCa	p.L121P	ZNF184_ENST00000377419.1_Missense_Mutation_p.L121P	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTCTGGAGATAGCTCTTCTTC	0.403000													5	93					0	0	0.000602214	0	0
CIDEA	1149	broad.mit.edu	37	18	12264320	12264320	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:12264320C>T	ENST00000320477.9	+	3	263	c.198C>T	c.(196-198)ctC>ctT	p.L66L	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	66	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						TGGATGCCCTCGTCATCGCTA	0.488000													12	51					0	0	0.000219431	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:37780794G>A	ENST00000447769.1	+	4	1088	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	GPR141_ENST00000334425.1_Missense_Mutation_p.E267K|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	267						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000													11	73					0	0	0.00010058	0	0
CSHL1	1444	broad.mit.edu	37	17	61987861	61987861	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:61987861G>A	ENST00000392824.4	-	2	495	c.434C>T	c.(433-435)tCc>tTc	p.S145F	CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Silent_p.F75F|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGTCATGCAGGAATGAATACT	0.517000													21	144					0	0	0.000375601	0	0
DIP2B	57609	broad.mit.edu	37	12	51079696	51079696	+	Silent	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:51079696A>G	ENST00000301180.5	+	11	1432	c.1398A>G	c.(1396-1398)aaA>aaG	p.K466K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	466						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTGTCTAAAAGGACTGCCAA	0.378000													8	54					0	0	0.000274275	0	0
ZNF570	148268	broad.mit.edu	37	19	37975219	37975219	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:37975219C>T	ENST00000330173.1	+	5	1224	c.695C>T	c.(694-696)tCc>tTc	p.S232F	ZNF570_ENST00000388801.3_Missense_Mutation_p.S29F|ZNF570_ENST00000586475.1_Missense_Mutation_p.S288F	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGTTCATCCCTTACTCTT	0.358000													29	199					0	0	0.000227799	0	0
BRINP3	339479	broad.mit.edu	37	1	190234128	190234128	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:190234128C>T	ENST00000367462.3	-	4	716	c.485G>A	c.(484-486)gGa>gAa	p.G162E	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Missense_Mutation_p.G60E|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		162						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGAATCACTTCCTTCAGCTCG	0.428000													11	63					0	0	0.000151284	0	0
NCOA6	23054	broad.mit.edu	37	20	33330467	33330467	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:33330467G>A	ENST00000374796.2	-	12	6163	c.3593C>T	c.(3592-3594)cCa>cTa	p.P1198L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1198L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1198	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGCCACATTTGGGAAGTGGTG	0.587000													17	142					0	0	0.000566183	0	0
OR2G2	81470	broad.mit.edu	37	1	247751905	247751905	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:247751905C>T	ENST00000320065.1	+	1	244	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAGTGTTATTCCCCAGCTCCT	0.498000													46	96					0	0	0.000680045	0	0
FREM1	158326	broad.mit.edu	37	9	14824883	14824883	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:14824883C>T	ENST00000380881.4	-	12	2807	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	FREM1_ENST00000380880.3_Silent_p.K663K|FREM1_ENST00000422223.2_Silent_p.K663K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	663					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTAGCTGTTTCTTAGTTATAT	0.418000													10	37					0	0	0.000442599	0	0
B4GALNT3	283358	broad.mit.edu	37	12	666915	666915	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:666915C>T	ENST00000266383.5	+	16	2535	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	841						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGAAGAGGTCCAAGCTGCGG	0.577000													5	39					0	0	0.000157383	0	0
ASXL3	80816	broad.mit.edu	37	18	31325349	31325349	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:31325349G>A	ENST00000269197.5	+	12	5537	c.5537G>A	c.(5536-5538)gGa>gAa	p.G1846E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1846					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTGAACCAGGAAAATTGTTG	0.478000													37	281					0	0	0.00128727	0	0
UBE2L6	9246	broad.mit.edu	37	11	57319895	57319895	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:57319895G>A	ENST00000340573.4	-	4	806	c.200C>T	c.(199-201)cCg>cTg	p.P67L	UBE2L6_ENST00000287156.4_Missense_Mutation_p.P133L	NM_198183.2	NP_937826.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	133					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	p.P133L(1)		large_intestine(1)|lung(3)|ovary(1)	5						GAACAGCTCCGGATTCTGTGT	0.577000													14	196					0	0	0.000308642	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356962	2356962	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:2356962G>A	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							CCGAGGTAACGAAGGGATTGA	0.517000													13	139					0	0	0.00074312	0	0
CDH6	1004	broad.mit.edu	37	5	31317792	31317792	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:31317792G>A	ENST00000265071.2	+	11	1908	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	CDH6_ENST00000514738.1_Missense_Mutation_p.G493E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	548	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACACGGCGGGAATCTTAACT	0.418000													7	73					0	0	0.000673444	0	0
LMOD1	25802	broad.mit.edu	37	1	201869306	201869306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:201869306C>T	ENST00000367288.4	-	2	1081	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	279	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTCCTTTTCATGTAAGGGT	0.493000													6	45					0	0	0.00116845	0	0
POMT2	29954	broad.mit.edu	37	14	77750143	77750143	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:77750143G>A	ENST00000261534.4	-	15	1852	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	550					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CACATACCCGGATCATGACCA	0.483000													9	109					0	0	0.000442599	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803851	23803851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:23803851C>T	ENST00000264867.2	-	11	2256	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	713	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCTCACCCATCATCCCGCAGA	0.408000													5	64					0	0	8.12818e-05	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834424	101834424	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:101834424G>A	ENST00000506729.1	-	1	296	c.125C>T	c.(124-126)tCg>tTg	p.S42L	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S42L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	42						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCGGGCTTCGAGGACTTCGG	0.577000													23	201					0	0	0.00047179	0	0
NRK	203447	broad.mit.edu	37	X	105178361	105178361	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:105178361G>A	ENST00000428173.2	+	20	3730	c.3427G>A	c.(3427-3429)Gat>Aat	p.D1143N	NRK_ENST00000243300.9_Missense_Mutation_p.D1142N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1142							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AACACAATCAGATTTTTCTGC	0.443000										HNSCC(51;0.14)			14	45					0	0	0.000308642	0	0
SORCS1	114815	broad.mit.edu	37	10	108439046	108439046	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:108439046C>T	ENST00000263054.6	-	12	1715	c.1708G>A	c.(1708-1710)Gtc>Atc	p.V570I	SORCS1_ENST00000344440.6_Missense_Mutation_p.V570I|SORCS1_ENST00000369698.1_Missense_Mutation_p.V105I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	570						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCTGAAGAGACAAACATGCTG	0.398000													12	71					0	0	0.000151284	0	0
APBB2	323	broad.mit.edu	37	4	40892394	40892394	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:40892394G>A	ENST00000295974.8	-	12	2142	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	APBB2_ENST00000513140.1_Missense_Mutation_p.R484C|APBB2_ENST00000506352.1_Missense_Mutation_p.R484C|APBB2_ENST00000508593.1_Missense_Mutation_p.R506C	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	505	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCATTGTCGCGGCCCACGCCC	0.642000													5	35					0	0	0.000602214	0	0
OTX2	5015	broad.mit.edu	37	14	57269016	57269016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:57269016C>T	ENST00000339475.5	-	5	607	c.331G>A	c.(331-333)Gga>Aga	p.G111R	OTX2_ENST00000408990.3_Missense_Mutation_p.G103R|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.G103R	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	103					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTTTGACCTCCATTCTGCTGT	0.453000													9	120					0	0	0.000274275	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535450	27535450	+	RNA	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:27535450T>C	ENST00000574842.1	+	0	255																											GCTCTTTCTGTTCATTCTGGG	0.428000													10	75					0	0	0.000442599	0	0
CPN2	1370	broad.mit.edu	37	3	194062184	194062184	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:194062184C>T	ENST00000323830.3	-	2	1337	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R	CPN2_ENST00000429275.1_Silent_p.R416R	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	416	LRRCT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGTTCAGGAGCCGATCGGTGT	0.617000													5	37					0	0	0.00116845	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158607	50158607	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:50158607G>A	ENST00000284509.6	-	26	3243	c.3102C>T	c.(3100-3102)tcC>tcT	p.S1034S	ATP8B4_ENST00000559829.1_Silent_p.S1034S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1034					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TAAATAAAATGGAGAAATAAA	0.393000													7	41					0	0	8.12818e-05	0	0
DRD5	1816	broad.mit.edu	37	4	9784955	9784955	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:9784955C>T	ENST00000304374.2	+	1	1698	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	434					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGGTCCTTTCGATCGCATGT	0.557000													9	69					0	0	0.000274275	0	0
ZNF623	9831	broad.mit.edu	37	8	144732969	144732969	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:144732969C>T	ENST00000501748.2	+	1	1016	c.927C>T	c.(925-927)caC>caT	p.H309H	ZNF623_ENST00000458270.2_Silent_p.H269H|ZNF623_ENST00000526926.1_Silent_p.H269H	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTATTGAACACCAGAGAATTC	0.458000													10	73					0	0	0.00010058	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679218	176679218	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:176679218G>A	ENST00000367662.3	+	11	4721	c.3557G>A	c.(3556-3558)gGa>gAa	p.G1186E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1186					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTCCCAAAGGATACTTGGAT	0.463000													12	81					0	0	0.000978159	0	0
TP53BP1	7158	broad.mit.edu	37	15	43714221	43714221	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:43714221G>A	ENST00000263801.3	-	19	4169	c.3917C>T	c.(3916-3918)tCc>tTc	p.S1306F	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1311F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1311F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1311F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1306					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCCTTGGAGGAGAAGGAGCT	0.547000								Other conserved DNA damage response genes					9	92					0	0	0.000442599	0	0
HAUS6	54801	broad.mit.edu	37	9	19070246	19070246	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:19070246G>A	ENST00000380502.3	-	12	1814	c.1347C>T	c.(1345-1347)acC>acT	p.T449T	HAUS6_ENST00000380496.1_Silent_p.T313T	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	449					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCTCCCAAGGTATCACTGT	0.299000													6	42					0	0	0.000157383	0	0
MYO7A	4647	broad.mit.edu	37	11	76924904	76924904	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:76924904G>A	ENST00000409709.3	+	48	6710		c.e48-1		MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000605744.1_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						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						TGCTCCCCCAGGATATCCTCA	0.602000													7	79					0	0	8.12818e-05	0	0
HCN4	10021	broad.mit.edu	37	15	73635897	73635897	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:73635897G>A	ENST00000261917.3	-	2	2031	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	346					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGAGGAAATGAAATCTACCA	0.532000													5	47					0	0	0.000602214	0	0
PTPRD	5789	broad.mit.edu	37	9	8484228	8484228	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:8484228T>G	ENST00000381196.4	-	27	3847	c.3304A>C	c.(3304-3306)Aag>Cag	p.K1102Q	PTPRD_ENST00000358503.5_Missense_Mutation_p.K1080Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.K1102Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.K688Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.K1102Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.K691Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.K681Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.K1089Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.K688Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.K681Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.K691Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1102	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTGCAGTCTTTGCCGTGACC	0.468000										TSP Lung(15;0.13)			7	61					0	0	0.000157383	0	0
ARAP1	116985	broad.mit.edu	37	11	72416905	72416905	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:72416905G>A	ENST00000359373.5	-	13	2605	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	ARAP1_ENST00000455638.2_Missense_Mutation_p.S585F|ARAP1_ENST00000393605.3_Missense_Mutation_p.S345F|ARAP1_ENST00000393609.3_Missense_Mutation_p.S585F|ARAP1_ENST00000426523.1_Missense_Mutation_p.S340F|ARAP1_ENST00000334211.8_Missense_Mutation_p.S340F|ARAP1_ENST00000429686.1_Missense_Mutation_p.S340F			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	585	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCGCACCTTGGAGACGCCAGC	0.632000													34	366					0	0	0.000319135	0	0
DNTT	1791	broad.mit.edu	37	10	98064354	98064354	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:98064354G>A	ENST00000419175.1	+	1	270	c.100G>A	c.(100-102)Gat>Aat	p.D34N	DNTT_ENST00000371174.2_Missense_Mutation_p.D34N|RP11-35J23.1_ENST00000454484.2_RNA	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	34	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAAATTTCAAGATTTGGTCGT	0.542000													15	54					0	0	0.000308642	0	0
MARVELD2	153562	broad.mit.edu	37	5	68716027	68716027	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:68716027T>C	ENST00000325631.5	+	2	889	c.815T>C	c.(814-816)gTt>gCt	p.V272A	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	272	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATTATTCTGGTTCTTGGCATG	0.433000													17	97					0	0	0.00074312	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632456	111632456	+	Silent	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:111632456A>G	ENST00000431670.2	+	3	2037	c.1626A>G	c.(1624-1626)gaA>gaG	p.E542E	PHLDB2_ENST00000393925.3_Silent_p.E542E|PHLDB2_ENST00000393923.3_Silent_p.E569E|PHLDB2_ENST00000481953.1_Silent_p.E542E|PHLDB2_ENST00000495180.1_Silent_p.E128E|PHLDB2_ENST00000412622.1_Silent_p.E542E|PHLDB2_ENST00000477695.1_Silent_p.E542E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	542						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAATGATGAACTACTCAGTG	0.532000													29	115					0	0	0.000279167	0	0
FYN	2534	broad.mit.edu	37	6	111995755	111995755	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:111995755G>A	ENST00000354650.3	-	13	1958	c.1352C>T	c.(1351-1353)tCt>tTt	p.S451F	FYN_ENST00000368682.3_Missense_Mutation_p.S448F|FYN_ENST00000368667.2_Missense_Mutation_p.S451F|FYN_ENST00000229471.4_Missense_Mutation_p.S396F|FYN_ENST00000538466.1_Missense_Mutation_p.S448F|FYN_ENST00000356013.2_Missense_Mutation_p.S396F|FYN_ENST00000368678.4_Missense_Mutation_p.S448F|FYN_ENST00000229470.5_Missense_Mutation_p.S399F	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	451	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GATTCCAAAAGACCACACGTC	0.527000													13	165					0	0	0.000151284	0	0
TMC5	79838	broad.mit.edu	37	16	19490830	19490830	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:19490830C>T	ENST00000396229.2	+	14	2996	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Silent_p.F749F|TMC5_ENST00000542583.2_Silent_p.F749F|TMC5_ENST00000561503.1_Silent_p.F390F|TMC5_ENST00000564959.1_Silent_p.F432F|TMC5_ENST00000541464.1_Silent_p.F697F|TMC5_ENST00000219821.5_Silent_p.F503F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	749						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATTCCTTCCTGGGGGAGT	0.468000													13	150					0	0	0.00010058	0	0
RYR2	6262	broad.mit.edu	37	1	237780696	237780696	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:237780696C>T	ENST00000366574.2	+	38	6143	c.5826C>T	c.(5824-5826)ttC>ttT	p.F1942F	RYR2_ENST00000542537.1_Silent_p.F1926F|RYR2_ENST00000360064.6_Silent_p.F1940F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1942	4 X approximate repeats.				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)			ATCAACGTTTCCGATACAACG	0.463000													11	69					0	0	0.00010058	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260800	1260800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:1260800G>A	ENST00000348261.5	+	21	4300	c.4052G>A	c.(4051-4053)gGg>gAg	p.G1351E	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G1351E|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G1351E	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1351					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTGGCCCTGGGGCTGCTGTCC	0.697000													5	47					0	0	0.000602214	0	0
WDR48	57599	broad.mit.edu	37	3	39116403	39116403	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:39116403C>T	ENST00000302313.5	+	8	887	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R205W|WDR48_ENST00000544962.1_Missense_Mutation_p.R79W	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	287					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCTGACATTCGGGTGCTAAT	0.383000													6	68					0	0	0.00116845	0	0
INSRR	3645	broad.mit.edu	37	1	156814414	156814414	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:156814414C>T	ENST00000368195.3	-	14	2973	c.2577G>A	c.(2575-2577)gaG>gaA	p.E859E	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	859	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCACTGTGGCCTCCTGAGAGT	0.627000													10	34					0	0	0.000978159	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711590	140711590	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140711590G>A	ENST00000517417.1	+	1	1339	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D447N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATATCAATGACAACTCCCC	0.468000													8	106					0	0	0.00010058	0	0
CSTF2	1478	broad.mit.edu	37	X	100077326	100077326	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:100077326G>A	ENST00000415585.2	+	3	246	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Missense_Mutation_p.R75Q			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	75	RRM.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGTGCCATGCGGAACCTGAAT	0.478000													17	35					0	0	0.000422831	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711651	155711651	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:155711651G>A	ENST00000295101.2	+	3	1809	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	444					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GTTCAGTTCCGGGCAACTCAG	0.428000													6	58					0	0	8.12818e-05	0	0
OR2T4	127074	broad.mit.edu	37	1	248525014	248525014	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248525014C>T	ENST00000366475.1	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTCGGATTTCATCCTGTTGG	0.473000													11	40					0	0	0.00010058	0	0
LOC440040	440040	broad.mit.edu	37	11	49598204	49598204	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:49598204C>T	ENST00000527477.1	+	0	808																											TCCTCCTCTTCCTTCTGCTCC	0.512000													4	28					0	0	0.00116845	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284880	125284880	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:125284880C>T	ENST00000431078.1	+	10	1857	c.1493C>T	c.(1492-1494)aCc>aTc	p.T498I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	498	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAATCTCACCGATTCCCAA	0.453000													7	46					0	0	0.000157383	0	0
ILDR1	286676	broad.mit.edu	37	3	121712078	121712078	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:121712078C>T	ENST00000273691.3	-	6	1491	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Silent_p.E417E|ILDR1_ENST00000462014.1_Silent_p.E474E|ILDR1_ENST00000344209.5_Silent_p.E506E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	506	Arg-rich.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCGGCTTCTCCTCGGGCCAGT	0.642000													5	25					0	0	8.12818e-05	0	0
TCHH	7062	broad.mit.edu	37	1	152085441	152085441	+	Silent	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:152085441A>G	ENST00000368804.1	-	2	251	c.252T>C	c.(250-252)gcT>gcC	p.A84A		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	84	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATAGTAACAAGCTTGAGCCA	0.498000													11	107					0	0	0.000978159	0	0
CRIM1	51232	broad.mit.edu	37	2	36744661	36744661	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:36744661G>A	ENST00000280527.2	+	12	2549	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	728	VWFC 4.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACGCACCCAGGATTCCTGCTG	0.602000													5	54					0	0	0.000157383	0	0
DNAH9	1770	broad.mit.edu	37	17	11539967	11539967	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:11539967G>A	ENST00000262442.3	+	9	1720	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G551E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	551	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GACATAGCAGGAAACCTCCTT	0.428000													6	71					0	0	0.000157383	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097973	43097973	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43097973C>T	ENST00000244336.5	-	2	245	c.144G>A	c.(142-144)ggG>ggA	p.G48G	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	48	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GAACCTCCTTCCCCTCTGCAG	0.537000													15	140					0	0	0.00121646	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925489	4925489	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrY:4925489G>A	ENST00000333703.4	+	4	1105	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.E209K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.E209K	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	209	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCAAAACTACGAACTAATTAA	0.308000													4	16					0	0	0.000602214	0	0
MXRA5	25878	broad.mit.edu	37	X	3240713	3240713	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:3240713G>A	ENST00000217939.6	-	5	3167	c.3013C>T	c.(3013-3015)Ccc>Tcc	p.P1005S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1005						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGATGGTGGGGGTTGGAGTA	0.463000													31	61					0	0	0.00058488	0	0
NSUN4	387338	broad.mit.edu	37	1	46810568	46810568	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:46810568C>T	ENST00000474844.1	+	2	839	c.189C>T	c.(187-189)atC>atT	p.I63I	NSUN4_ENST00000536062.1_Silent_p.I14I|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Silent_p.I14I	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	63							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGCCATCAATCCGTGTCAGTC	0.493000													48	108					0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38738242	38738242	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:38738242A>T	ENST00000359357.3	+	10	1274	c.1020A>T	c.(1018-1020)aaA>aaT	p.K340N	DNAH8_ENST00000449981.2_Missense_Mutation_p.K557N|DNAH8_ENST00000441566.1_Missense_Mutation_p.K340N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAAGGAAACTGATTTCAG	0.323000													8	47					0	0	0.000673444	0	0
TPO	7173	broad.mit.edu	37	2	1480956	1480956	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:1480956G>A	ENST00000345913.4	+	8	1009	c.918G>A	c.(916-918)ggG>ggA	p.G306G	TPO_ENST00000337415.3_Silent_p.G306G|TPO_ENST00000346956.3_Silent_p.G306G|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Silent_p.G306G|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Silent_p.G306G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	306					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCTCTTTGGGAACCTGTCCA	0.711000													4	22					0	0	0.00024832	0	0
PTGER3	5733	broad.mit.edu	37	1	71418655	71418655	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:71418655C>T	ENST00000356595.4	-	4	1402	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.E398*(1)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	ACCTCCATTTCTTCTCTGTTC	0.413000													21	93					0	0	0.000878237	0	0
STAB1	23166	broad.mit.edu	37	3	52554133	52554133	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:52554133C>T	ENST00000321725.6	+	51	5485	c.5409C>T	c.(5407-5409)gtC>gtT	p.V1803V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1803	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTCGCAATGTCGAGGTGGGTG	0.602000													7	55					0	0	8.12818e-05	0	0
CSF1R	1436	broad.mit.edu	37	5	149452977	149452977	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:149452977G>A	ENST00000286301.3	-	7	1260	c.969C>T	c.(967-969)gtC>gtT	p.V323V	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	323	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCTCCACCATGACTTTGAGGT	0.552000													17	172					0	0	0.00121646	0	0
FIBIN	387758	broad.mit.edu	37	11	27016165	27016165	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:27016165G>A	ENST00000318627.2	+	1	538	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	31						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ATGTCCAATGGGACTCTGCAC	0.542000													7	45					0	0	8.12818e-05	0	0
SYT13	57586	broad.mit.edu	37	11	45274137	45274137	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:45274137G>A	ENST00000020926.3	-	4	792	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	227	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCGCCAGGGGGAGCACCAGGC	0.677000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	68					0	0	0.000978159	0	0
NRG1	3084	broad.mit.edu	37	8	32621406	32621406	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:32621406C>T	ENST00000338921.4	+	13	1950	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L	NRG1_ENST00000539990.1_Missense_Mutation_p.P313L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.P420L|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.P475L|NRG1_ENST00000287845.5_Missense_Mutation_p.P441L|NRG1_ENST00000287842.3_Missense_Mutation_p.P467L|NRG1_ENST00000405005.2_Missense_Mutation_p.P470L|NRG1_ENST00000287840.5_Missense_Mutation_p.P470L			Q02297	NRG1_HUMAN	neuregulin 1	470					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCGGTCAGCCCCTTCATGGAA	0.567000													9	57					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179659214	179659214	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179659214C>T	ENST00000589042.1	-	8	1534	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	TTN_ENST00000359218.5_Missense_Mutation_p.R437K|TTN_ENST00000342992.6_Missense_Mutation_p.R437K|TTN_ENST00000342175.6_Missense_Mutation_p.R437K|TTN_ENST00000360870.5_Missense_Mutation_p.R437K|TTN_ENST00000460472.2_Missense_Mutation_p.R437K|TTN_ENST00000591111.1_Missense_Mutation_p.R437K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	437							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)			TTCTCTCACTCTGGCCATATC	0.478000													22	126					0	0	0.000295444	0	0
NDST3	9348	broad.mit.edu	37	4	118976018	118976018	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:118976018G>A	ENST00000296499.5	+	2	1356	c.953G>A	c.(952-954)gGa>gAa	p.G318E	NDST3_ENST00000433996.2_Missense_Mutation_p.G318E	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	318	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GGAAAAGAGGGAACAAGAATG	0.393000													8	56					0	0	0.000157383	0	0
SNED1	25992	broad.mit.edu	37	2	241991542	241991542	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:241991542C>T	ENST00000310397.8	+	14	1937	c.1937C>T	c.(1936-1938)cCc>cTc	p.P646L	SNED1_ENST00000405547.3_Missense_Mutation_p.P646L|SNED1_ENST00000401884.1_Missense_Mutation_p.P646L|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.P646L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	646	EGF-like 9.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGACTGTCCCCCAGGCTTC	0.612000													7	55					0	0	0.000157383	0	0
LILRB5	10990	broad.mit.edu	37	19	54760148	54760148	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:54760148C>T	ENST00000450632.1	-	4	463	c.386G>A	c.(385-387)gGa>gAa	p.G129E	LILRB5_ENST00000449561.2_Missense_Mutation_p.G138E|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Missense_Mutation_p.G138E			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	138	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACATTTCCTCCTGAGGC	0.542000													14	99					0	0	0.000566183	0	0
MYH8	4626	broad.mit.edu	37	17	10317334	10317334	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10317334G>A	ENST00000403437.2	-	12	1126	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	344	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTCAGGAGTGAAGCCCAGGA	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	81					0	0	0.000673444	0	0
CCT5	22948	broad.mit.edu	37	5	10263303	10263303	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:10263303C>T	ENST00000280326.4	+	10	1795	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	CCT5_ENST00000515676.1_Missense_Mutation_p.P421S|CCT5_ENST00000506600.1_Missense_Mutation_p.P366S|CCT5_ENST00000503026.1_Missense_Mutation_p.P438S|CCT5_ENST00000515390.1_Missense_Mutation_p.P404S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	459					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GGAGGTCATCCCCATGGCCCT	0.532000													12	63					0	0	0.00010058	0	0
ZNF544	27300	broad.mit.edu	37	19	58772598	58772598	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:58772598A>G	ENST00000269829.4	+	7	1100	c.626A>G	c.(625-627)gAt>gGt	p.D209G	ZNF544_ENST00000415203.2_Missense_Mutation_p.D181G|ZNF544_ENST00000600044.1_Missense_Mutation_p.D181G|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.D209G|ZNF544_ENST00000600220.1_Missense_Mutation_p.D181G|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.D67G|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AATGGAGCAGATGGGAAGCAC	0.378000													14	52					0	0	0.000308642	0	0
CACNA1E	777	broad.mit.edu	37	1	181701992	181701992	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:181701992C>T	ENST00000526775.1	+	19	2878	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R856C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R531C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R924C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R924C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R875C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R905C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	924					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCCGGCATCGCCGCGTCAG	0.647000													17	136					0	0	0.000958276	0	0
ZNF521	25925	broad.mit.edu	37	18	22804972	22804972	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:22804972G>A	ENST00000361524.3	-	4	3058	c.2910C>T	c.(2908-2910)tcC>tcT	p.S970S	ZNF521_ENST00000584787.1_Silent_p.S750S|ZNF521_ENST00000538137.2_Silent_p.S970S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	970					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)					GAGTTAAAAGGGAGGGAAACC	0.483000			T	PAX5	ALL								11	66					0	0	0.000673444	0	0
TET1	80312	broad.mit.edu	37	10	70411639	70411639	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:70411639C>T	ENST00000373644.4	+	5	4522	c.4313C>T	c.(4312-4314)aCa>aTa	p.T1438I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1438					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCATATTATACACACCTTGGG	0.423000													42	156					0	0	0.000781405	0	0
BICD1	636	broad.mit.edu	37	12	32481285	32481285	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:32481285C>T	ENST00000548411.1	+	5	2077	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	BICD1_ENST00000281474.5_Silent_p.I632I	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	632					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATGCCATAATCCGGGACCAAA	0.488000													22	120					0	0	0.000295444	0	0
OR10H3	26532	broad.mit.edu	37	19	15852774	15852774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:15852774G>A	ENST00000305892.1	+	1	572	c.572G>A	c.(571-573)gGg>gAg	p.G191E		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G191E(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTGGCCTGTGGGAGCAAGACA	0.463000													21	146					0	0	0.000229342	0	0
UBR4	23352	broad.mit.edu	37	1	19430658	19430658	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:19430658C>A	ENST00000375267.2	-	87	12824	c.12821G>T	c.(12820-12822)cGg>cTg	p.R4274L	UBR4_ENST00000375217.2_Missense_Mutation_p.R4267L|UBR4_ENST00000375254.3_Missense_Mutation_p.R4274L|UBR4_ENST00000375226.2_Missense_Mutation_p.R4250L|UBR4_ENST00000375224.1_5'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4274					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCAGCTTCCGCAAGCACAG	0.532000													8	94					0.000274275	0.00226146	0.000274275	1	0
HTR3B	9177	broad.mit.edu	37	11	113780094	113780094	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:113780094C>T	ENST00000260191.2	+	2	387	c.130C>T	c.(130-132)Cat>Tat	p.H44Y	HTR3B_ENST00000537778.1_Missense_Mutation_p.H33Y	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	44					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		ACAGAAATATCATAAAGAAGT	0.438000													11	77					0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82764435	82764435	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:82764435C>T	ENST00000423517.2	-	3	2768	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	PCLO_ENST00000333891.8_Missense_Mutation_p.E811K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	757	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						CTGACTTTTTCCCCTGTTGGT	0.433000													19	185					0	0	0.000586117	0	0
PCLO	27445	broad.mit.edu	37	7	82582185	82582185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:82582185G>A	ENST00000423517.2	-	5	8421	c.8084C>T	c.(8083-8085)tCc>tTc	p.S2695F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2695F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2626					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						AATTGTTATGGAAATGCTGCT	0.413000													6	28					0	0	0.00116845	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054371	21054371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:21054371C>T	ENST00000381545.3	+	15	2054	c.1835C>T	c.(1834-1836)gCt>gTt	p.A612V	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.A612V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.A612V|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.A612V	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	612					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCACAAGGGGCTTGTAGGATA	0.358000													14	100					0	0	0.000219431	0	0
ARMC9	80210	broad.mit.edu	37	2	232156154	232156154	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:232156154C>T	ENST00000349938.4	+	18	1909	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	572							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CAGCTAAATTCCGGTCAGTTT	0.408000													15	105					0	0	0.000308642	0	0
DNAH9	1770	broad.mit.edu	37	17	11666863	11666863	+	Missense_Mutation	SNP	G	G	A	rs140313224		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:11666863G>A	ENST00000262442.3	+	36	7170	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2368K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2368					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2368K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCCTAAGGAAATTTATGA	0.493000													11	80					0	0	0.000978159	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211152	45211152	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:45211152G>A	ENST00000587331.1	+	6	1175	c.960G>A	c.(958-960)atG>atA	p.M320I	CEACAM16_ENST00000405314.2_Missense_Mutation_p.M320I|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	320										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TTGCCACGATGATCGTGCCCG	0.657000													12	132					0	0	0.000151284	0	0
CNBD2	140894	broad.mit.edu	37	20	34583006	34583006	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:34583006C>T	ENST00000373973.3	+	8	1075	c.902C>T	c.(901-903)tCc>tTc	p.S301F	CNBD2_ENST00000349339.1_Missense_Mutation_p.S301F|CNBD2_ENST00000538900.1_Missense_Mutation_p.S301F					cyclic nucleotide binding domain containing 2																		GCCTCCCCTTCCTACCGTAGA	0.582000											OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	91					0	0	0.000274275	0	0
FCHO1	23149	broad.mit.edu	37	19	17888970	17888970	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:17888970G>A	ENST00000594202.1	+	19	1563	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	FCHO1_ENST00000539407.1_Silent_p.E428E|FCHO1_ENST00000600676.1_Silent_p.E428E|FCHO1_ENST00000596536.1_Silent_p.E428E|FCHO1_ENST00000595033.1_Silent_p.E378E|FCHO1_ENST00000389133.4_Silent_p.E428E|FCHO1_ENST00000596951.1_Silent_p.E428E|FCHO1_ENST00000597512.1_Silent_p.E435E|FCHO1_ENST00000252771.7_Silent_p.E428E	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	428										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCAGTCAGAGGAGCAGGTGT	0.557000													8	84					0	0	0.000274275	0	0
CACNA1E	777	broad.mit.edu	37	1	181727953	181727953	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:181727953C>T	ENST00000526775.1	+	31	4662	c.4497C>T	c.(4495-4497)acC>acT	p.T1499T	CACNA1E_ENST00000358338.5_Silent_p.T1450T|CACNA1E_ENST00000367567.4_Silent_p.T1125T|CACNA1E_ENST00000367573.2_Silent_p.T1518T|CACNA1E_ENST00000367570.1_Silent_p.T1518T|CACNA1E_ENST00000357570.5_Silent_p.T1469T|CACNA1E_ENST00000360108.3_Silent_p.T1499T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1518					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGCCTTCACCATGGTGTTTT	0.468000													14	134					0	0	0.00074312	0	0
OR1S1	219959	broad.mit.edu	37	11	57982703	57982703	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:57982703T>C	ENST00000309433.6	+	1	487	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CATCTCATGGTTCCTCAGTAA	0.483000													18	123					0	0	0.000958276	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178822870	178822870	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:178822870C>T	ENST00000234816.2	-	4	1323	c.876G>A	c.(874-876)ggG>ggA	p.G292G	RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Silent_p.G292G|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	292	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCATATAAATCCCACTGACCG	0.378000													5	90					0	0	0.00116845	0	0
PDILT	204474	broad.mit.edu	37	16	20384393	20384393	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:20384393C>T	ENST00000302451.4	-	6	981	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	245					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CGATTGAGTTCCTGTTTGTTG	0.423000													16	108					0	0	0.00121646	0	0
PMS1	5378	broad.mit.edu	37	2	190742046	190742046	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:190742046G>A	ENST00000441310.2	+	13	2916	c.2683G>A	c.(2683-2685)Gag>Aag	p.E895K	PMS1_ENST00000447232.2_Missense_Mutation_p.E733K|PMS1_ENST00000409823.3_Missense_Mutation_p.E856K|PMS1_ENST00000418224.3_Missense_Mutation_p.E719K|PMS1_ENST00000432292.3_Missense_Mutation_p.E719K	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	895					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTTATCAAAAGAGGACATCCA	0.388000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					6	50					0	0	8.12818e-05	0	0
AHSG	197	broad.mit.edu	37	3	186333585	186333585	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:186333585G>A	ENST00000411641.2	+	2	543		c.e2+1		AHSG_ENST00000273784.5_Splice_Site			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein						acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GAAGGAGCATGTGAGTACCCT	0.567000													7	47					0	0	0.000157383	0	0
MYH4	4622	broad.mit.edu	37	17	10356585	10356585	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10356585C>T	ENST00000255381.2	-	24	3105	c.2995G>A	c.(2995-2997)Gag>Aag	p.E999K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	999					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTTCTTCTCCTTGGTCAGC	0.488000													14	178					0	0	0.000566183	0	0
ATP8A2	51761	broad.mit.edu	37	13	26127990	26127990	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:26127990C>T	ENST00000381655.2	+	12	1259	c.1117C>T	c.(1117-1119)Ctt>Ttt	p.L373F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.L333F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	333					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ATACAACAATCTTATTCCCAT	0.393000													12	101					0	0	0.000151284	0	0
CNGB3	54714	broad.mit.edu	37	8	87738790	87738790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:87738790C>T	ENST00000320005.5	-	3	354	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	103					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGGTCCATTTCCTTCTGCTCT	0.438000													30	199					0	0	0.000409698	0	0
VPS41	27072	broad.mit.edu	37	7	38812206	38812206	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:38812206G>A	ENST00000310301.4	-	13	1098	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Silent_p.I323I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	348					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCGGACTCACGATGTAAAAAA	0.428000													6	26					0	0	0.000673444	0	0
LRRC10	376132	broad.mit.edu	37	12	70004285	70004285	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:70004285C>T	ENST00000361484.3	-	1	657	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	112						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTGGGGAGGTCGCAGAGTTTG	0.572000													11	78					0	0	0.000978159	0	0
ZNF229	7772	broad.mit.edu	37	19	44934694	44934694	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:44934694C>T	ENST00000291187.4	-	6	566	c.244G>A	c.(244-246)Gag>Aag	p.E82K	ZNF229_ENST00000588931.1_Missense_Mutation_p.E88K|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGAATATACTCCGTATCCTTT	0.418000													5	37					0	0	0.00116845	0	0
DAB1	1600	broad.mit.edu	37	1	57480937	57480937	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:57480937G>A	ENST00000371236.2	-	12	1326	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	DAB1_ENST00000371234.4_Missense_Mutation_p.P355S|DAB1_ENST00000371231.1_Missense_Mutation_p.P388S|DAB1_ENST00000439789.2_Missense_Mutation_p.P269S|DAB1_ENST00000414851.2_Missense_Mutation_p.P337S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.P353S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	388					cell differentiation|nervous system development			p.P355S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCCACAGTTGGCCAGGGCTGC	0.652000													22	91					0	0	0.00106085	0	0
ECM2	1842	broad.mit.edu	37	9	95285090	95285090	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:95285090C>T	ENST00000344604.5	-	2	208	c.59G>A	c.(58-60)gGa>gAa	p.G20E	ECM2_ENST00000375540.1_Missense_Mutation_p.G20E|ECM2_ENST00000444490.2_Missense_Mutation_p.G20E|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	20					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTCATTTTTTCCAAAGTCAGT	0.348000													17	55					0	0	0.000566183	0	0
SAMD7	344658	broad.mit.edu	37	3	169642886	169642886	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:169642886C>T	ENST00000428432.2	+	5	641	c.252C>T	c.(250-252)gcC>gcT	p.A84A	SAMD7_ENST00000335556.3_Silent_p.A84A	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	84										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCAGTGGCCAGAAGGAATG	0.358000													7	49					0	0	0.000274275	0	0
B4GALT3	8703	broad.mit.edu	37	1	161144857	161144857	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:161144857G>A	ENST00000319769.5	-	4	637	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R139C|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	139					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGCAGCAGGCGCAGGTGGTGC	0.622000													7	145					0	0	0.000157383	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269298	150269298	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:150269298G>A	ENST00000255945.2	+	3	315	c.140G>A	c.(139-141)gGa>gAa	p.G47E	GIMAP4_ENST00000461940.1_Missense_Mutation_p.G61E|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	47							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCAACAGGAAACAGCATC	0.463000													7	52					0	0	8.12818e-05	0	0
INSRR	3645	broad.mit.edu	37	1	156814413	156814413	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:156814413C>T	ENST00000368195.3	-	14	2974	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	860	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCACTGTGGCCTCCTGAGAG	0.627000													10	35					0	0	0.000978159	0	0
ERI3	79033	broad.mit.edu	37	1	44820606	44820606	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:44820606G>A	ENST00000372257.2	-	1	274	c.93C>T	c.(91-93)ctC>ctT	p.L31L	ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	31						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGTCCAGGGGAGAGTAAGGG	0.701000													9	23					0	0	0.000673444	0	0
BRINP1	1620	broad.mit.edu	37	9	122011315	122011315	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:122011315C>T	ENST00000265922.3	-	3	793	c.332G>A	c.(331-333)aGa>aAa	p.R111K	DBC1_ENST00000373964.2_Missense_Mutation_p.R111K	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		111	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGTGGTAGGTCTCCTGCCAAG	0.567000													8	68					0	0	0.000442599	0	0
OR7E24	26648	broad.mit.edu	37	19	9361896	9361896	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9361896G>A	ENST00000456448.1	+	1	291	c.177G>A	c.(175-177)ggG>ggA	p.G59G		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CGGTGCTGGGGAACCTGCTCA	0.577000													4	46					0	0	0.00024832	0	0
SNTG1	54212	broad.mit.edu	37	8	51449301	51449301	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:51449301G>A	ENST00000522124.1	+	11	1274	c.613G>A	c.(613-615)Gac>Aac	p.D205N	SNTG1_ENST00000518864.1_Missense_Mutation_p.D205N|SNTG1_ENST00000276467.5_Missense_Mutation_p.D205N|SNTG1_ENST00000517473.1_Missense_Mutation_p.D205N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	205					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCGATGGTGCGACCTCAGACT	0.478000													10	122					0	0	0.000442599	0	0
VSTM4	196740	broad.mit.edu	37	10	50227709	50227709	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:50227709C>T	ENST00000332853.3	-	8	972	c.949G>A	c.(949-951)Gag>Aag	p.E317K		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	317						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCTTGTTCTCCTCGAAGAGG	0.512000													14	57					0	0	0.000219431	0	0
IMPG1	3617	broad.mit.edu	37	6	76660470	76660470	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:76660470G>A	ENST00000369950.3	-	13	1822	c.1633C>T	c.(1633-1635)Cat>Tat	p.H545Y	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	545					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGAAATGATCTGGGACA	0.488000													9	50					0	0	0.000673444	0	0
ZNF649	65251	broad.mit.edu	37	19	52393992	52393992	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:52393992G>A	ENST00000354957.3	-	5	1681	c.1397C>T	c.(1396-1398)cCt>cTt	p.P466L	ZNF649_ENST00000600738.1_Missense_Mutation_p.P438L|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGCTGTGGAAGGATTTTCCAC	0.448000													28	196					0	0	0.000409698	0	0
ZAN	7455	broad.mit.edu	37	7	100350559	100350559	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:100350559C>T	ENST00000542585.1	+	0	2979				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCACCATCCCCACAGAAAAA	0.507000													4	50					0	0	0.000602214	0	0
INTS3	65123	broad.mit.edu	37	1	153713833	153713833	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:153713833C>T	ENST00000318967.2	+	3	875	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Nonsense_Mutation_p.Q103*	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	103					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAACCTGCCCAAGCCCAGAA	0.483000													11	109					0	0	0.000673444	0	0
MIR329-1	574408	broad.mit.edu	37	14	101493194	101493194	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:101493194C>T	ENST00000385028.1	+	0	73					NR_029967.1																						AACCTCTTTTCCAGTATCAAA	0.463000													10	73					0	0	0.00010058	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844001	128844001	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:128844001G>A	ENST00000524655.1	-	19	2850	c.2827C>T	c.(2827-2829)Cca>Tca	p.P943S	ARHGAP32_ENST00000392657.3_Intron|ARHGAP32_ENST00000527272.1_Intron|ARHGAP32_ENST00000310343.9_Intron			A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1017					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAAAGAATGGAGGAAAACAA	0.428000													8	78					0	0	0.000442599	0	0
MYH8	4626	broad.mit.edu	37	17	10304036	10304036	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10304036C>T	ENST00000403437.2	-	27	3500	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1136					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGCTGCTTCTCCGCTTTGGCT	0.552000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	82					0	0	0.000274275	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683447	71683447	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:71683447C>T	ENST00000393524.2	-	17	3850	c.3117G>A	c.(3115-3117)ctG>ctA	p.L1039L	PHLPP2_ENST00000356272.3_Silent_p.L1106L|PHLPP2_ENST00000568954.1_Silent_p.L1106L|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000567016.1_Silent_p.L1141L|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1106						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGGCAGTGTCCAGGCCCCCAG	0.597000													8	55					0	0	0.000157383	0	0
COL14A1	7373	broad.mit.edu	37	8	121381578	121381578	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:121381578G>A	ENST00000297848.3	+	47	5435	c.5165G>A	c.(5164-5166)gGg>gAg	p.G1722E	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1627E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1722E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1722	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACCTTCAGGGGAGAGTCGG	0.557000													8	61					0	0	0.000442599	0	0
ADAM7	8756	broad.mit.edu	37	8	24365042	24365042	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:24365042C>G	ENST00000175238.6	+	21	2341	c.2258C>G	c.(2257-2259)gCc>gGc	p.A753G	ADAM7_ENST00000380789.1_Missense_Mutation_p.A775G|ADAM7_ENST00000520720.1_Intron|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	753					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AATCAAAGTGCCAAGTGGTAG	0.378000													5	63					0	0	8.12818e-05	0	0
PAX1	5075	broad.mit.edu	37	20	21689274	21689274	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:21689274C>T	ENST00000398485.2	+	3	1049	c.995C>T	c.(994-996)cCc>cTc	p.P332L	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P308L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	332					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACGGCCTTCCCCGCCACCCCC	0.602000													15	87					0	0	0.000308642	0	0
OSBPL11	114885	broad.mit.edu	37	3	125279359	125279359	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:125279359G>A	ENST00000296220.5	-	8	1308	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	340					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TATTTCTTCAGGCTCCTTGAT	0.363000													8	142					0	0	0.000274275	0	0
LOC102724332	102724332	broad.mit.edu	37	2	89161452	89161452	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:89161452C>T	ENST00000430694.1	-	0	666																											GAGAGCTCTCCATTGTCTTGC	0.498000													10	73					0	0	0.000219431	0	0
GRHL2	79977	broad.mit.edu	37	8	102570758	102570758	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:102570758G>A	ENST00000251808.3	+	4	734	c.396G>A	c.(394-396)gaG>gaA	p.E132E	GRHL2_ENST00000395927.1_Silent_p.E116E	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	132						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATCACCTGGAGAATTCCAAGC	0.507000													12	125					0	0	0.000151284	0	0
COL4A1	1282	broad.mit.edu	37	13	110850836	110850836	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:110850836G>A	ENST00000375820.4	-	21	1384	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	COL4A1_ENST00000543140.1_Silent_p.P421P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	421	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTGCCCAGGGGGCCCAGGGG	0.592000													6	70					0	0	0.000157383	0	0
ZNF99	7652	broad.mit.edu	37	19	22952096	22952096	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:22952096C>T	ENST00000397104.3	-	2	96	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E12K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGAGCGAATTCTATGGTCACA	0.403000													8	75					0	0	0.000673444	0	0
FAT3	120114	broad.mit.edu	37	11	92086880	92086880	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:92086880G>A	ENST00000298047.6	+	1	1619	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	FAT3_ENST00000541502.1_Silent_p.L534L|FAT3_ENST00000409404.2_Silent_p.L534L|FAT3_ENST00000525166.1_Silent_p.L384L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	534	Cadherin 5.				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)				CTGAAGAACTGGATTTTGAAT	0.398000										TCGA Ovarian(4;0.039)			42	448					0	0	0.000589545	0	0
NLRP2	55655	broad.mit.edu	37	19	55493973	55493973	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:55493973G>A	ENST00000543010.1	+	6	1050	c.907G>A	c.(907-909)Gac>Aac	p.D303N	NLRP2_ENST00000263437.6_Missense_Mutation_p.D300N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D279N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D281N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D303N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D280N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D279N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D281N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	303	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTGATCGAGGACATCTGCGG	0.592000													10	70					0	0	0.000978159	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184861	175184861	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:175184861C>T	ENST00000454872.1	+	8	1550	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	474					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAGCGTTTATCCGTGCCTTGA	0.438000													47	148					0	0	0.000781405	0	0
TAOK2	9344	broad.mit.edu	37	16	29998717	29998717	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:29998717C>T	ENST00000308893.4	+	16	4167	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.P869S|TAOK2_ENST00000543033.1_Missense_Mutation_p.P929S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1042	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.P1042S(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CATGGGTGTTCCCCTGGGCCT	0.687000													10	48					0	0	0.000673444	0	0
FPR2	2358	broad.mit.edu	37	19	52272426	52272426	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:52272426G>A	ENST00000598776.1	+	2	1287	c.515G>A	c.(514-516)gGg>gAg	p.G172E	FPR2_ENST00000340023.6_Missense_Mutation_p.G172E|FPR2_ENST00000598953.1_Missense_Mutation_p.G172E	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	172					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATTCCAAATGGGGACACATAC	0.502000													10	95					0	0	0.000673444	0	0
SAMD3	154075	broad.mit.edu	37	6	130465700	130465700	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:130465700C>T	ENST00000368134.2	-	14	2136	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	SAMD3_ENST00000457563.2_Missense_Mutation_p.E534K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E510K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E510K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	510										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACTTCGTTTTCCTTTTCTTTC	0.373000													6	57					0	0	0.00116845	0	0
ECSCR	641700	broad.mit.edu	37	5	138837189	138837189	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:138837189C>T	ENST00000515823.1	-	4	230	c.157_splice	c.e4-1	p.G53_splice		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	53					angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane											AGGGATGTATCCTGCAAGGAC	0.577000													14	96					0	0	0.000422831	0	0
CXCR6	10663	broad.mit.edu	37	3	45988186	45988186	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:45988186G>A	ENST00000458629.1	+	1	1676	c.213G>A	c.(211-213)gtG>gtA	p.V71V	CXCR6_ENST00000457814.1_Silent_p.V71V|CXCR6_ENST00000438735.1_Silent_p.V71V|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.V71V|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	71					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGTTCCTGGTGAACCTACCCC	0.547000													31	126					0	0	0.000339439	0	0
NPR1	4881	broad.mit.edu	37	1	153657492	153657492	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:153657492G>A	ENST00000368680.3	+	8	2009	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	513					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGTGCGCTGGGAGGACGTTGA	0.637000													15	80					0	0	0.000219431	0	0
IL36B	27177	broad.mit.edu	37	2	113783804	113783804	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:113783804C>T	ENST00000259213.4	-	5	374	c.267G>A	c.(265-267)caG>caA	p.Q89Q		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	89					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						cttgggagccctgaagctgga	0.463000													5	41					0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9066519	9066519	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9066519G>A	ENST00000397910.4	-	3	21130	c.20927C>T	c.(20926-20928)cCc>cTc	p.P6976L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6978	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTACCAGTGGGGACTTCTGA	0.483000													26	108					0	0	0.000586117	0	0
BPI	671	broad.mit.edu	37	20	36938957	36938957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:36938957G>A	ENST00000262865.4	+	4	540	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	151					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTGAAGCTGGGCAGTAACCC	0.512000													6	51					0	0	0.00116845	0	0
MYOCD	93649	broad.mit.edu	37	17	12656507	12656507	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:12656507C>T	ENST00000425538.1	+	10	2102	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S	MYOCD_ENST00000343344.4_Silent_p.S634S|MYOCD_ENST00000395988.1_Silent_p.S538S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	634					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.S634S(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCAGTGTTCCCCTCAGCATT	0.547000													15	122					0	0	0.000422831	0	0
HUWE1	10075	broad.mit.edu	37	X	53674318	53674318	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:53674318G>A	ENST00000342160.3	-	5	801	c.344C>T	c.(343-345)tCc>tTc	p.S115F	HUWE1_ENST00000218328.8_Missense_Mutation_p.S115F|HUWE1_ENST00000262854.6_Missense_Mutation_p.S115F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	115					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCTCTATGGAACTGTACAG	0.428000													16	12					0	0	0.000566183	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907694	12907694	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:12907694C>T	ENST00000317869.6	-	2	674	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGAGGTGTTTCCTGATAGACG	0.493000													49	127					0	0	0.000781405	0	0
LRP2	4036	broad.mit.edu	37	2	170099976	170099976	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:170099976C>T	ENST00000263816.3	-	23	3772	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N	LRP2_ENST00000443831.1_Missense_Mutation_p.D1026N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1163	LDL-receptor class A 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACGATAGGTCAATACATCGA	0.393000													10	74					0	0	0.000978159	0	0
CACNA1F	778	broad.mit.edu	37	X	49062997	49062997	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:49062997C>T	ENST00000376265.2	-	46	5541	c.5480G>A	c.(5479-5481)cGa>cAa	p.R1827Q	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1762Q|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1816Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1827					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCCTGAATTTCGCCCACGATG	0.602000													18	30					0	0	0.000175454	0	0
OR4C3	256144	broad.mit.edu	37	11	48347131	48347131	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:48347131C>T	ENST00000319856.4	+	1	660	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGGAAGTTGCCTGCACCAATA	0.498000													6	53					0	0	0.000157383	0	0
MROH2B	133558	broad.mit.edu	37	5	41000375	41000375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:41000375C>T	ENST00000399564.4	-	39	4879	c.4429G>A	c.(4429-4431)Gat>Aat	p.D1477N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D1032N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGATCCTGATCAAGGAGACGG	0.502000													12	55					0	0	0.00010058	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589737	64589737	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:64589737C>T	ENST00000498707.1	-	25	3950	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1175Q	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1203	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTATCTCATCCGGGTACCTTT	0.512000													29	396					0	0	0.00127121	0	0
RAB19	401409	broad.mit.edu	37	7	140110840	140110840	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:140110840C>T	ENST00000275874.5	+	3	467	c.269C>T	c.(268-270)cCc>cTc	p.P90L	RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AAGATGAGCCCCCAAATCTGG	0.502000													14	118					0	0	0.000219431	0	0
SGMS1	259230	broad.mit.edu	37	10	52103748	52103748	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:52103748C>T	ENST00000361781.2	-	7	1086	c.127G>A	c.(127-129)Gat>Aat	p.D43N	SGMS1_ENST00000361543.2_Missense_Mutation_p.D43N|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	49	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTTTTGAAATCCTCTTGGGTT	0.512000													18	73					0	0	0.000958276	0	0
OR13F1	138805	broad.mit.edu	37	9	107267323	107267323	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:107267323G>A	ENST00000334726.2	+	1	869	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCATGCACCTGAAGCCCTCCG	0.478000													5	75					0	0	0.00116845	0	0
GSTA2	2939	broad.mit.edu	37	6	52617667	52617667	+	Silent	SNP	G	G	A	rs142983962		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:52617667G>A	ENST00000493422.1	-	5	554	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	133	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CAAAGGCAGGGAAGTAGCGAT	0.443000													33	263					0	0	0.000680045	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236523	140236523	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140236523G>A	ENST00000307360.5	+	1	890	c.890G>A	c.(889-891)aGg>aAg	p.R297K	PCDHA9_ENST00000532602.1_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|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R297K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAACGAAAGGACGGGAGAA	0.368000													12	49					0	0	0.000151284	0	0
TTN	7273	broad.mit.edu	37	2	179440844	179440844	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179440844C>T	ENST00000589042.1	-	326	70239	c.70015G>A	c.(70015-70017)Gag>Aag	p.E23339K	TTN_ENST00000359218.5_Missense_Mutation_p.E14399K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E20771K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14466K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14274K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21698K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21698	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGCCATCTCCCGTTCTACG	0.443000													10	70					0	0	0.000442599	0	0
FBXL20	84961	broad.mit.edu	37	17	37439089	37439089	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:37439089C>T	ENST00000264658.6	-	8	774	c.514G>A	c.(514-516)Gag>Aag	p.E172K	FBXL20_ENST00000583610.1_Missense_Mutation_p.E172K|FBXL20_ENST00000577399.1_Missense_Mutation_p.E174K|FBXL20_ENST00000394294.3_Missense_Mutation_p.E140K	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	172						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTCAACTGCTCCAACAGTGGA	0.413000													11	106					0	0	0.00010058	0	0
C8A	731	broad.mit.edu	37	1	57347218	57347218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:57347218C>T	ENST00000361249.3	+	5	661	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	189	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGGAGCTTCGATATGACTC	0.453000													16	40					0	0	0.000566183	0	0
CXCR1	3577	broad.mit.edu	37	2	219029128	219029128	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:219029128C>T	ENST00000295683.2	-	2	927	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	269					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TCACCTGGGTCCTCATGAGGG	0.587000													5	94					0	0	0.000602214	0	0
CDH6	1004	broad.mit.edu	37	5	31317869	31317869	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:31317869G>A	ENST00000265071.2	+	11	1985	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	CDH6_ENST00000514738.1_Missense_Mutation_p.D519N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	574	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCAGACAACGACTACCCAGT	0.527000													6	35					0	0	0.00116845	0	0
SPRR2A	6700	broad.mit.edu	37	1	153029007	153029007	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:153029007G>A	ENST00000392653.2	-	2	290	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	69					keratinization	cornified envelope|cytoplasm	binding			large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGCTCTTCGGTGGATACTTT	0.512000													24	204					0	0	0.000586117	0	0
RNF17	56163	broad.mit.edu	37	13	25338447	25338447	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:25338447G>A	ENST00000255324.5	+	1	158	c.106G>A	c.(106-108)Gga>Aga	p.G36R	RNF17_ENST00000381921.1_Missense_Mutation_p.G36R|RNF17_ENST00000255325.5_Missense_Mutation_p.G36R|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	36					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CACCAGGTGTGGAAGGAGGGT	0.652000													6	21					0	0	0.00116845	0	0
UNC13A	23025	broad.mit.edu	37	19	17735706	17735706	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:17735706C>T	ENST00000428389.2	-	36	4392	c.4393G>A	c.(4393-4395)Gag>Aag	p.E1465K	UNC13A_ENST00000552293.1_Missense_Mutation_p.E1377K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1377K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1377K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1377K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1375K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1377	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTCCACAGCTCCTTCAGCACT	0.602000													14	43					0	0	0.000308642	0	0
MTMR7	9108	broad.mit.edu	37	8	17163275	17163275	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:17163275C>T	ENST00000180173.5	-	11	1377	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	MTMR7_ENST00000521857.1_Missense_Mutation_p.R448Q|MTMR7_ENST00000398099.3_Missense_Mutation_p.R39Q	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	448	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTTGAGTTCTCGTCTCTCCTT	0.343000													7	35					0	0	0.000157383	0	0
PRDM9	56979	broad.mit.edu	37	5	23523411	23523411	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:23523411G>A	ENST00000296682.3	+	9	1076	c.894G>A	c.(892-894)ggG>ggA	p.G298G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	298	SET.				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						TCACCAAGGGGAGAAACTGCT	0.438000										HNSCC(3;0.000094)			15	95					0	0	0.000566183	0	0
SSX3	10214	broad.mit.edu	37	X	48214653	48214653	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:48214653G>A	ENST00000298396.2	-	2	84	c.32C>T	c.(31-33)cCc>cTc	p.P11L	SSX3_ENST00000376893.3_Missense_Mutation_p.P11L	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						ACCAACCGTGGGTCTCCTTGC	0.527000													28	79					0	0	0.000814825	0	0
SCN11A	11280	broad.mit.edu	37	3	38945362	38945362	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38945362C>T	ENST00000450244.1	-	12	2034	c.1836G>A	c.(1834-1836)ggG>ggA	p.G612G	SCN11A_ENST00000302328.3_Silent_p.G612G|SCN11A_ENST00000456224.3_Silent_p.G612G|SCN11A_ENST00000444237.2_Silent_p.G612G			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	612					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTACCAAATTCCCTATATTCA	0.343000													8	41					0	0	0.000274275	0	0
ZNF536	9745	broad.mit.edu	37	19	31039268	31039268	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:31039268C>T	ENST00000355537.3	+	4	2889	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F914F(1)		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)					GTGTGAATTTCCAAGGGTCCT	0.493000													28	217					0	0	0.000227799	0	0
CHD5	26038	broad.mit.edu	37	1	6206398	6206398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:6206398C>T	ENST00000262450.3	-	11	1775	c.1676G>A	c.(1675-1677)gGg>gAg	p.G559E	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	559					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTCTTCATCCCCAGAGCCGTA	0.557000													20	59					0	0	0.000295444	0	0
BMPER	168667	broad.mit.edu	37	7	34091556	34091556	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:34091556G>A	ENST00000297161.2	+	9	1134	c.760G>A	c.(760-762)Gat>Aat	p.D254N	BMPER_ENST00000426693.1_Missense_Mutation_p.D254N|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	254	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTTCTGTACGATAACTGCAC	0.473000													11	101					0	0	0.00010058	0	0
KATNB1	10300	broad.mit.edu	37	16	57785579	57785579	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:57785579C>T	ENST00000379661.3	+	7	851	c.459C>T	c.(457-459)ctC>ctT	p.L153L		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	153	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TGCGGTGTCTCCGGTTCAGCC	0.687000													12	77					0	0	0.000151284	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964811	31964811	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr21:31964811A>G	ENST00000391624.1	+	1	53	c.26A>G	c.(25-27)tAc>tGc	p.Y9C		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						TACAGAAACTACAATGGTGGC	0.562000													5	54					0	0	0.00116845	0	0
RLN3	117579	broad.mit.edu	37	19	14139177	14139177	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:14139177G>A	ENST00000431365.2	+	1	218	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	RLN3_ENST00000585987.1_Missense_Mutation_p.R54Q	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	54						extracellular region	hormone activity			endometrium(1)|lung(4)	5						CGGTGGAGACGATCAGACATC	0.637000													10	68					0	0	0.000442599	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077676	32077676	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:32077676G>A	ENST00000354689.6	+	0	291				RP11-1166P10.6_ENST00000566806.1_RNA																							ATTACTGTGTGAAACACAGAG	0.562000													11	454					0	0	0.000673444	0	0
NOD2	64127	broad.mit.edu	37	16	50733428	50733428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:50733428C>T	ENST00000300589.2	+	2	208	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	35	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAGGCTTTTCAGGCACAGAG	0.612000													19	228					0	0	0.000375601	0	0
NYAP2	57624	broad.mit.edu	37	2	226447182	226447182	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:226447182C>T	ENST00000272907.6	+	4	1462	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	350	Pro-rich.																TCCCCCAACTCCGACGAGTCC	0.642000													4	24					0	0	0.00024832	0	0
C10orf68	79741	broad.mit.edu	37	10	33134500	33134500	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:33134500A>G	ENST00000375030.2	+	16	1690	c.1072A>G	c.(1072-1074)Act>Gct	p.T358A	C10orf68_ENST00000375025.4_Missense_Mutation_p.T463A|C10orf68_ENST00000375028.3_Missense_Mutation_p.T403A			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	399										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TGCCTATGCTACTGGAAGAGG	0.308000													11	97					0	0	0.000978159	0	0
WDR12	55759	broad.mit.edu	37	2	203748933	203748933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:203748933G>A	ENST00000261015.3	-	10	1725	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	326	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TTAGTTCGGGGATCCCACAGT	0.373000													52	408					0	0	0.000781405	0	0
OR2A25	392138	broad.mit.edu	37	7	143771361	143771361	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:143771361C>T	ENST00000408898.2	+	1	87	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACTGGGATTTCCCATTGGCCC	0.488000													10	87					0	0	0.000673444	0	0
PEX5L	51555	broad.mit.edu	37	3	179593220	179593220	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:179593220C>T	ENST00000467460.1	-	6	881	c.551G>A	c.(550-552)gGa>gAa	p.G184E	PEX5L_ENST00000464614.1_Missense_Mutation_p.G76E|PEX5L_ENST00000392649.3_Missense_Mutation_p.G76E|PEX5L_ENST00000485199.1_Missense_Mutation_p.G149E|PEX5L_ENST00000476138.1_Missense_Mutation_p.G141E|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000472994.1_Missense_Mutation_p.G125E|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.G160E|PEX5L_ENST00000263962.8_Missense_Mutation_p.G182E	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	184					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTTCGATCTCCATGAAACTT	0.453000													11	63					0	0	0.000978159	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:86808051G>A	ENST00000441037.2	+	10	1606	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_ENST00000421325.2_Missense_Mutation_p.R504Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R235Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000													11	48					0	0	0.00010058	0	0
GABRB3	2562	broad.mit.edu	37	15	26806161	26806161	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:26806161C>T	ENST00000541819.2	-	9	1268	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	GABRB3_ENST00000400188.3_Missense_Mutation_p.G262E|GABRB3_ENST00000545868.1_Missense_Mutation_p.G248E|GABRB3_ENST00000311550.5_Missense_Mutation_p.G333E|GABRB3_ENST00000299267.4_Missense_Mutation_p.G333E			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	333					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGGCCTCTTCCAAAGAAAAT	0.488000													9	73					0	0	0.000274275	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854553	12854553	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:12854553C>T	ENST00000332296.7	+	3	880	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	259										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCCAAATTCAGCTCTGTGT	0.448000													51	194					0	0	0.000781405	0	0
MEP1B	4225	broad.mit.edu	37	18	29790487	29790487	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:29790487G>A	ENST00000269202.6	+	10	990	c.943G>A	c.(943-945)Gat>Aat	p.D315N	MEP1B_ENST00000581447.1_Missense_Mutation_p.D315N	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	315	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGCATTTCGATAGCAGCTC	0.408000													6	40					0	0	0.00116845	0	0
PDCD11	22984	broad.mit.edu	37	10	105181256	105181256	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:105181256C>T	ENST00000369797.3	+	17	2523	c.2429C>T	c.(2428-2430)aCc>aTc	p.T810I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	810					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGCTATCACCAGCCTCCTC	0.632000													4	18					0	0	0.000602214	0	0
POF1B	79983	broad.mit.edu	37	X	84614582	84614582	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:84614582C>T	ENST00000262753.4	-	4	556	c.411G>A	c.(409-411)agG>agA	p.R137R	POF1B_ENST00000373145.3_Silent_p.R137R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	137							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTACATATTTCCTAATAGTGG	0.308000													6	17					0	0	0.000157383	0	0
DNHD1	144132	broad.mit.edu	37	11	6519580	6519580	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:6519580C>T	ENST00000254579.6	+	3	699	c.135C>T	c.(133-135)ttC>ttT	p.F45F	DNHD1_ENST00000527990.2_Silent_p.F45F|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Silent_p.F45F	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	45					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGAGGCAGTTCGTGAAGCCAG	0.532000													24	168					0	0	0.00106085	0	0
OR10X1	128367	broad.mit.edu	37	1	158548961	158548961	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:158548961C>T	ENST00000368150.1	-	1	728	c.729G>A	c.(727-729)agG>agA	p.R243R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGAAGGGATCCTGAGGACAG	0.453000													31	94					0	0	0.00058488	0	0
DNAH2	146754	broad.mit.edu	37	17	7673685	7673685	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:7673685G>A	ENST00000572933.1	+	25	5517	c.4057G>A	c.(4057-4059)Gag>Aag	p.E1353K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1353K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1353	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAAATTGGGGAGATCTCTGC	0.542000													7	52					0	0	0.000442599	0	0
PIRT	644139	broad.mit.edu	37	17	10728815	10728815	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10728815C>T	ENST00000580256.1	-	2	786	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	50						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CGGTAGATTTCCCAGTTACTC	0.592000													5	23					0	0	0.000602214	0	0
SLC22A14	9389	broad.mit.edu	37	3	38354523	38354523	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38354523G>A	ENST00000273173.4	+	5	1069	c.978G>A	c.(976-978)atG>atA	p.M326I	SLC22A14_ENST00000448498.1_Missense_Mutation_p.M326I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	326						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGCTGATGATGAAAGGGAAGG	0.577000													4	15					0	0	0.00024832	0	0
PRKCQ	5588	broad.mit.edu	37	10	6520992	6520992	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:6520992G>A	ENST00000263125.5	-	12	1414	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	PRKCQ_ENST00000539722.1_Missense_Mutation_p.P314S|PRKCQ_ENST00000397176.2_Missense_Mutation_p.P439S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	439	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GTCAGAAACGGATGCTCCCAG	0.473000													7	58					0	0	8.12818e-05	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768682	51768682	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:51768682C>T	ENST00000316401.7	+	3	464	c.83C>T	c.(82-84)tCc>tTc	p.S28F	SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TGCAGCTGTTCCTTCCATGGG	0.582000													9	86					0	0	0.000673444	0	0
TBX18	9096	broad.mit.edu	37	6	85466495	85466495	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:85466495G>A	ENST00000369663.5	-	4	1029	c.692C>T	c.(691-693)tCg>tTg	p.S231L	TBX18_ENST00000606784.1_Missense_Mutation_p.S73L|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	231					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGTCTCCCCCGAGGCAGGCGA	0.512000													7	60					0	0	8.12818e-05	0	0
RGS5	8490	broad.mit.edu	37	1	163131767	163131767	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:163131767C>T	ENST00000313961.5	-	3	433		c.e3-1		RGS5_ENST00000534288.1_Splice_Site|RGS5_ENST00000530507.1_Splice_Site|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000367903.3_Splice_Site	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5						negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGCGAGGTTCTACATCAATA	0.423000													5	68					0	0	0.00116845	0	0
MYH2	4620	broad.mit.edu	37	17	10433391	10433391	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10433391C>T	ENST00000245503.5	-	23	3082	c.2697_splice	c.e23-1	p.E900_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Splice_Site_p.E900_splice|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	900					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTCGGCTTCCTTAAGTTGG	0.388000													7	121					0	0	0.000274275	0	0
PARM1	25849	broad.mit.edu	37	4	75938084	75938084	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:75938084C>T	ENST00000307428.7	+	2	705	c.493C>T	c.(493-495)Cca>Tca	p.P165S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	165					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						ATCAACCTCACCACCTGAGGT	0.587000													19	246					0	0	0.000375601	0	0
WDR47	22911	broad.mit.edu	37	1	109556543	109556543	+	Missense_Mutation	SNP	G	G	A	rs140178030	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:109556543G>A	ENST00000357672.3	-	3	538	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	WDR47_ENST00000400794.3_Missense_Mutation_p.R83C|WDR47_ENST00000369962.3_Missense_Mutation_p.R83C|WDR47_ENST00000361054.3_Missense_Mutation_p.R55C|WDR47_ENST00000369965.4_Missense_Mutation_p.R83C			O94967	WDR47_HUMAN	WD repeat domain 47	83	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATAATATAACGAAACCTGTGG	0.323000													78	250					0	0	0.000781405	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499593	104499593	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:104499593G>A	ENST00000361820.3	-	1	1269	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	223					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CGTGGCGCACGATGCTGATCA	0.632000													5	43					0	0	8.12818e-05	0	0
OR5R1	219479	broad.mit.edu	37	11	56185662	56185662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:56185662C>T	ENST00000312253.1	-	1	46	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTTGGTAATTCCTTTCAGAAT	0.383000													11	77					0	0	0.000673444	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38494424	38494424	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:38494424G>A	ENST00000381669.3	-	5	486	c.342C>T	c.(340-342)ttC>ttT	p.F114F	BAIAP2L2_ENST00000332536.5_Silent_p.F114F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	114	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TCACTTTGATGAACTGCATGT	0.597000											OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	67					0	0	0.000308642	0	0
IFT122	55764	broad.mit.edu	37	3	129207226	129207226	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:129207226G>A	ENST00000296266.3	+	17	2323	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	IFT122_ENST00000347300.2_Missense_Mutation_p.E601K|IFT122_ENST00000507564.1_Missense_Mutation_p.E652K|IFT122_ENST00000504021.1_Missense_Mutation_p.E554K|IFT122_ENST00000431818.2_Missense_Mutation_p.E510K|IFT122_ENST00000440957.2_Missense_Mutation_p.E451K|IFT122_ENST00000349441.2_Missense_Mutation_p.E549K|IFT122_ENST00000348417.2_Missense_Mutation_p.E660K	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	660					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTTAGATTTTGAAACAGCAAA	0.517000													16	55					0	0	0.000566183	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607505	31607505	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:31607505C>T	ENST00000170150.3	+	11	1224	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	343						extracellular region	lipid binding										TCGTGGAGGTCCTGGCCACAG	0.637000													6	32					0	0	0.00116845	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093613	43093613	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43093613G>A	ENST00000244336.5	-	3	800	c.699C>T	c.(697-699)gtC>gtT	p.V233V	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	233					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				ACTCACAGAGGACATTCAGGG	0.527000													12	111					0	0	0.000219431	0	0
OR8B8	26493	broad.mit.edu	37	11	124310318	124310318	+	Missense_Mutation	SNP	G	G	A	rs1893135	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:124310318G>A	ENST00000328064.2	-	1	736	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGCTGGAGAGAATGAGAGCA	0.483000													13	141					0	0	0.000151284	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567330	45567330	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:45567330G>A	ENST00000588982.1	-	3	650	c.149C>T	c.(148-150)tCc>tTc	p.S50F	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.S50F|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.S50F|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.S50F|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.S50F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	50	BTB.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGCCAGGACGGAGCGGTGGGT	0.597000													5	65					0	0	8.12818e-05	0	0
LRIT1	26103	broad.mit.edu	37	10	85993963	85993963	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:85993963G>A	ENST00000372105.3	-	3	782	c.761C>T	c.(760-762)cCa>cTa	p.P254L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	254						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ATGGAGCTCTGGGCCCTGGCA	0.607000													21	76					0	0	0.000375601	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42830320	42830320	+	Silent	SNP	C	C	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:42830320C>A	ENST00000314073.5	+	12	2598	c.2422C>A	c.(2422-2424)Cga>Aga	p.R808R	GLTSCR1L_ENST00000394168.1_Silent_p.R808R					GLTSCR1-like									p.R808R(2)									TTCCCTGTCCCGAGACAAGCG	0.507000													6	186					0.00116845	0.00960186	0.00116845	1	0
ODF4	146852	broad.mit.edu	37	17	8243450	8243450	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:8243450G>A	ENST00000328248.2	+	1	269	c.81G>A	c.(79-81)agG>agA	p.R27R	ODF4_ENST00000584943.1_Silent_p.R27R	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	27					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GAAAGGAAAGGAAGAGTGGGG	0.557000													10	57					0	0	0.000978159	0	0
FGD2	221472	broad.mit.edu	37	6	36978769	36978769	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:36978769C>T	ENST00000274963.8	+	3	492	c.321C>T	c.(319-321)gtC>gtT	p.V107V		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	107	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGATCGTCCAGGAGCTGC	0.612000													5	65					0	0	0.00116845	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													6	34					0	0	8.12818e-05	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559889	44559889	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:44559889C>T	ENST00000332567.4	-	1	2099	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	583	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCGTAATTCGTCTGTCTCT	0.517000													6	72					0	0	0.00116845	0	0
SCUBE2	57758	broad.mit.edu	37	11	9055212	9055212	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:9055212G>A	ENST00000457346.2	-	17	2208	c.2134C>T	c.(2134-2136)Ctg>Ttg	p.L712L	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Intron|SCUBE2_ENST00000450649.2_Silent_p.L557L|SCUBE2_ENST00000309263.3_Silent_p.L683L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	683			H -> Q (in dbSNP:rs7395988).			extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGGGTCTTCAGGGCCCCAGAA	0.463000													25	181					0	0	0.00127121	0	0
HRASLS	57110	broad.mit.edu	37	3	192988399	192988399	+	Nonsense_Mutation	SNP	C	C	T	rs151296838	by1000genomes	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:192988399C>T	ENST00000264735.2	+	4	821	c.727C>T	c.(727-729)Cga>Tga	p.R243*	HRASLS_ENST00000602513.1_Nonsense_Mutation_p.R138*	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	138										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ATAGGCCAACCGAGCGATAAG	0.383000													5	64					0	0	0.000602214	0	0
LRP2	4036	broad.mit.edu	37	2	170097742	170097742	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:170097742G>A	ENST00000263816.3	-	25	4086	c.3801C>T	c.(3799-3801)gtC>gtT	p.V1267V	LRP2_ENST00000443831.1_Silent_p.V1130V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1267	LDL-receptor class A 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGTCTTGGGGACACAGGCAT	0.502000													19	90					0	0	0.000175454	0	0
PCLO	27445	broad.mit.edu	37	7	82581593	82581593	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:82581593G>A	ENST00000423517.2	-	5	9013	c.8676C>T	c.(8674-8676)atC>atT	p.I2892I	PCLO_ENST00000333891.8_Silent_p.I2892I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2823					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						CCCCATCAGTGATTCCCTGGG	0.453000													6	105					0	0	0.00116845	0	0
IGSF1	3547	broad.mit.edu	37	X	130413158	130413158	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:130413158G>A	ENST00000370903.3	-	11	2006	c.1724C>T	c.(1723-1725)tCt>tTt	p.S575F	IGSF1_ENST00000370904.1_Intron|IGSF1_ENST00000370910.1_Intron|IGSF1_ENST00000361420.3_Intron	NM_001170961.1|NM_001555.4	NP_001164432.1|NP_001546.2	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	572					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTGCAAAAGAAATTGCTGC	0.572000													27	46					0	0	0.000586117	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480115	27480115	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:27480115C>T	ENST00000233535.4	-	5	1036	c.684G>A	c.(682-684)ggG>ggA	p.G228G	SLC30A3_ENST00000447008.2_Silent_p.G223G	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	228					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGGTGTTCCCCAGGGGCA	0.647000													7	23					0	0	0.000157383	0	0
STK36	27148	broad.mit.edu	37	2	219563577	219563577	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:219563577C>T	ENST00000295709.3	+	26	3589	c.3310C>T	c.(3310-3312)Ctg>Ttg	p.L1104L	STK36_ENST00000392106.2_Silent_p.L1083L|STK36_ENST00000392105.3_Silent_p.L1083L|STK36_ENST00000440309.1_Silent_p.L1104L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1104					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCAAGAGCTTCTGGCTGGCTC	0.587000													10	67					0	0	0.000673444	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558632	129558632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:129558632G>A	ENST00000422113.2	-	9	3414	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.Q568*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1030						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACTTTTCTGATCTTTCCCA	0.468000													6	76					0	0	8.12818e-05	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280882	105280882	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:105280882C>T	ENST00000327674.4	-	1	503	c.168G>A	c.(166-168)agG>agA	p.R56R	SERPINA7_ENST00000372563.1_Silent_p.R56R			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	56					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCACAGTGAACCTCCGGTACA	0.473000													9	28					0	0	0.000442599	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401359	11401359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:11401359C>T	ENST00000002596.5	-	2	1445	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	91						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TCCTCCCAGTCGAAGAAGTGG	0.642000													11	99					0	0	0.00010058	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183029	167183029	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:167183029C>T	ENST00000476257.1	-	6	1129	c.831G>A	c.(829-831)gaG>gaA	p.E277E	SERPINI2_ENST00000461846.1_Silent_p.E277E|SERPINI2_ENST00000264677.4_Silent_p.E277E|SERPINI2_ENST00000471111.1_Silent_p.E277E			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	277					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTTCTTGCATCTCAGAGAGCC	0.358000													28	105					0	0	0.00127121	0	0
CLN5	1203	broad.mit.edu	37	13	77570195	77570195	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:77570195T>A	ENST00000377453.3	+	3	1937	c.645T>A	c.(643-645)ttT>ttA	p.F215L	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	166					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		CTGCCTGCTTTTTTGAGGGAA	0.403000													13	124					0	0	0.000422831	0	0
RFWD2	64326	broad.mit.edu	37	1	176015319	176015319	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:176015319G>A	ENST00000367669.3	-	12	1933	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	RFWD2_ENST00000308769.8_Silent_p.I449I	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	473					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTAAATACCTGATTTTCGAAT	0.318000													12	107					0	0	0.00010058	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777753	43777753	+	Nonsense_Mutation	SNP	G	G	A	rs144064003	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:43777753G>A	ENST00000389420.3	-	30	4479	c.4480C>T	c.(4480-4482)Cag>Tag	p.Q1494*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1494	TSP type-1 12.					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)		TCCCTCTGCTGAACTCCAGAG	0.448000													4	22					0	0	0.000602214	0	0
XKR3	150165	broad.mit.edu	37	22	17288683	17288683	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:17288683C>T	ENST00000331428.5	-	2	383	c.281G>A	c.(280-282)aGa>aAa	p.R94K		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	94						integral to membrane|plasma membrane		p.R94I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	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)				AGCCTTATTTCTCCTCAAGTC	0.358000													7	76					0	0	0.000274275	0	0
C11orf63	79864	broad.mit.edu	37	11	122774767	122774767	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:122774767T>C	ENST00000227349.2	+	3	776	c.479T>C	c.(478-480)tTg>tCg	p.L160S	C11orf63_ENST00000531316.1_Missense_Mutation_p.L160S|C11orf63_ENST00000307257.6_Missense_Mutation_p.L160S	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	160										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AATCTGCCTTTGGCTCCCCTC	0.542000													13	93					0	0	0.000151284	0	0
MMP25	64386	broad.mit.edu	37	16	3100328	3100328	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:3100328G>A	ENST00000336577.4	+	4	679	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	148					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TGCCCTGATGGCCTGGGGCAT	0.632000													10	57					0	0	0.000442599	0	0
CCDC129	223075	broad.mit.edu	37	7	31692414	31692414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:31692414G>A	ENST00000319386.3	+	14	3655	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	CCDC129_ENST00000409210.1_Missense_Mutation_p.G944R|CCDC129_ENST00000407970.3_Missense_Mutation_p.G1036R|CCDC129_ENST00000451887.2_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1036										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTGTCCTGTTGGAGAAAAGGA	0.443000													14	93					0	0	0.000566183	0	0
MUC17	140453	broad.mit.edu	37	7	100685859	100685859	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:100685859C>T	ENST00000306151.4	+	3	11226	c.11162C>T	c.(11161-11163)aCc>aTc	p.T3721I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3721	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGTTGTCACCAGCACACCT	0.498000													24	133					0	0	0.000878237	0	0
A2M	2	broad.mit.edu	37	12	9254095	9254095	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:9254095A>T	ENST00000318602.7	-	12	1749	c.1442T>A	c.(1441-1443)aTt>aAt	p.I481N		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	481					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCATTCAGAATATAATGTGC	0.493000													4	33					0	0	0.000602214	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757027	56757027	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:56757027C>T	ENST00000326855.2	+	1	681	c.639C>T	c.(637-639)gtC>gtT	p.V213V		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTGGGTTGGTCGTCATCTTTT	0.433000													16	130					0	0	0.000566183	0	0
MYH8	4626	broad.mit.edu	37	17	10307677	10307677	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10307677C>T	ENST00000403437.2	-	22	2752	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	886					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTCATTTTTCTCTTTTAAGA	0.398000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	47					0	0	0.000157383	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248480	49248480	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:49248480C>T	ENST00000332955.2	-	3	848	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	101					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCTTTTACATCACTGTCTGTG	0.502000													10	84					0	0	0.00010058	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493244	20493244	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:20493244C>T	ENST00000202677.6	-	32	4911	c.4769G>A	c.(4768-4770)gGg>gAg	p.G1590E		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1590					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAGGGCTGCCCTTGGCTGGT	0.463000													6	33					0	0	0.00116845	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337320	115337320	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:115337320G>A	ENST00000337530.6	+	2	1256	c.960G>A	c.(958-960)caG>caA	p.Q320Q	KIAA1958_ENST00000374244.3_Silent_p.Q320Q|KIAA1958_ENST00000536272.1_Silent_p.Q320Q	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	320										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTAACAAACAGATCAGTATCC	0.552000													21	225					0	0	0.000229342	0	0
TRIM55	84675	broad.mit.edu	37	8	67047249	67047249	+	Silent	SNP	C	C	T	rs151067178		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:67047249C>T	ENST00000315962.4	+	3	739	c.366C>T	c.(364-366)ccC>ccT	p.P122P	TRIM55_ENST00000350034.4_Silent_p.P122P|TRIM55_ENST00000353317.5_Silent_p.P122P|TRIM55_ENST00000276573.7_Silent_p.P122P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	122						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.P122P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCGACCAGCCCATGTGCGAGG	0.517000													10	58					0	0	0.00010058	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187363	140187363	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140187363G>A	ENST00000530339.1	+	1	591	c.591G>A	c.(589-591)cgG>cgA	p.R197R	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R197R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.R197R	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATATTACGGAAATCTTTAG	0.458000													9	90					0	0	0.000442599	0	0
KDM2B	84678	broad.mit.edu	37	12	122012474	122012474	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:122012474G>A	ENST00000377069.4	-	4	688	c.282C>T	c.(280-282)gtC>gtT	p.V94V	KDM2B_ENST00000538046.2_Silent_p.V125V|KDM2B_ENST00000536437.1_Silent_p.V8V|KDM2B_ENST00000377071.4_Silent_p.V125V	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	125					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGACGTCTCGGACTGTGAAAT	0.567000													7	76					0	0	0.000274275	0	0
NLRP13	126204	broad.mit.edu	37	19	56424097	56424097	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:56424097C>T	ENST00000588751.1	-	5	1110	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	NLRP13_ENST00000342929.3_Silent_p.T362T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	362	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGTCTTGATCGTGATCAGTA	0.468000													13	82					0	0	0.00010058	0	0
AGRN	375790	broad.mit.edu	37	1	985855	985855	+	Silent	SNP	C	C	T	rs147990356	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:985855C>T	ENST00000379370.2	+	29	5075	c.5025C>T	c.(5023-5025)ggC>ggT	p.G1675G		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1675	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCCCAGCGGCCTCCTGCTCT	0.672000													8	30					0	0	0.000442599	0	0
TLE4	7091	broad.mit.edu	37	9	82267551	82267551	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:82267551C>T	ENST00000376520.4	+	7	1262	c.434C>T	c.(433-435)cCc>cTc	p.P145L	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.P145L|TLE4_ENST00000376544.3_Missense_Mutation_p.P145L|TLE4_ENST00000376552.2_Missense_Mutation_p.P145L|TLE4_ENST00000265284.6_Missense_Mutation_p.P120L|TLE4_ENST00000455913.1_3'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATGGTCTCCCCGTACCTCTG	0.557000													23	184					0	0	0.00047179	0	0
OR2M4	26245	broad.mit.edu	37	1	248402452	248402452	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248402452C>T	ENST00000306687.1	+	1	222	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATGCTCATCTGCACCACTC	0.458000													8	93					0	0	0.000274275	0	0
FGD2	221472	broad.mit.edu	37	6	36995249	36995249	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:36995249C>T	ENST00000274963.8	+	15	1821	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	550	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGTGCAGCTTCCTGCAGCTCA	0.617000													15	116					0	0	0.000308642	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935354	151935354	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:151935354G>A	ENST00000393902.3	-	3	1380	c.813C>T	c.(811-813)ttC>ttT	p.F271F	MAGEA3_ENST00000370278.3_Silent_p.F271F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	271	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCCACAGGAATTCATAAC	0.537000													28	72					0	0	0.000227799	0	0
KCNV1	27012	broad.mit.edu	37	8	110984919	110984919	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:110984919C>T	ENST00000524391.1	-	3	1591	c.559G>A	c.(559-561)Gga>Aga	p.G187R	KCNV1_ENST00000297404.1_Missense_Mutation_p.G187R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	187						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGACAAGGTCCTTGGGAGAAG	0.468000													16	87					0	0	0.000308642	0	0
PTPRE	5791	broad.mit.edu	37	10	129871687	129871687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:129871687G>A	ENST00000254667.3	+	17	1830	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	PTPRE_ENST00000419012.2_Nonsense_Mutation_p.W517*|PTPRE_ENST00000306042.5_Nonsense_Mutation_p.W459*	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	517	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCTGGGAATGGAAATCCCACA	0.602000													12	52					0	0	0.000978159	0	0
C4orf26	152816	broad.mit.edu	37	4	76489604	76489604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:76489604C>T	ENST00000435974.2	+	3	410	c.392C>T	c.(391-393)tCc>tTc	p.S131F	C4orf26_ENST00000311623.4_Silent_p.F116F	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATAGGTATTTCCCCAGAAGAA	0.433000													18	217					0	0	0.00121646	0	0
PROSER1	80209	broad.mit.edu	37	13	39597248	39597248	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:39597248G>A	ENST00000352251.3	-	8	1417	c.584C>T	c.(583-585)cCa>cTa	p.P195L	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.P173L	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	195	Pro-rich.																AGGTTTATGTGGATTATATGT	0.378000													5	54					0	0	8.12818e-05	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119628	47119628	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:47119628C>T	ENST00000290341.3	+	9	1300	c.966C>T	c.(964-966)aaC>aaT	p.N322N	IGF2BP1_ENST00000431824.2_Silent_p.N183N	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	322	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCTTTACAACCCTGAGAGGA	0.537000													22	133					0	0	0.000375601	0	0
ROPN1B	152015	broad.mit.edu	37	3	125690939	125690939	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:125690939G>A	ENST00000504401.1	+	2	291	c.42G>A	c.(40-42)ctG>ctA	p.L14L	ROPN1B_ENST00000251776.4_Silent_p.L14L|ROPN1B_ENST00000514116.1_Silent_p.L14L|ROPN1B_ENST00000511862.1_3'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	14	RIIa.				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CGCCGGAGCTGCCGAAAATGC	0.517000													13	88					0	0	0.000308642	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673169	141673169	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:141673169G>A	ENST00000547270.1	-	1	404	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	107					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGCAAGCCAGAGGTTGGCTT	0.517000													9	89					0	0	0.000978159	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325113	162325113	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:162325113G>A	ENST00000361897.5	+	7	1134	c.732G>A	c.(730-732)ggG>ggA	p.G244G	NOS1AP_ENST00000530878.1_Silent_p.G239G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	244					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATGCTGTAGGGAAGGAAGGAG	0.557000													8	143					0	0	0.000442599	0	0
ZIM3	114026	broad.mit.edu	37	19	57647152	57647152	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:57647152G>A	ENST00000269834.1	-	5	938	c.553C>T	c.(553-555)Cac>Tac	p.H185Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCTCAGGTGACTTTGAAGG	0.413000													22	154					0	0	0.000375601	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881928	92881928	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:92881928G>A	ENST00000326402.4	-	11	1420	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	SLC36A4_ENST00000529184.1_Silent_p.I295I	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	430					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGGTGGCAGGATTAGGGCCA	0.393000													15	149					0	0	0.000422831	0	0
LARP4	113251	broad.mit.edu	37	12	50848137	50848137	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:50848137C>T	ENST00000398473.2	+	10	1170	c.1058C>T	c.(1057-1059)tCg>tTg	p.S353L	LARP4_ENST00000518444.1_Missense_Mutation_p.S352L|LARP4_ENST00000522085.1_Missense_Mutation_p.S353L|LARP4_ENST00000347328.5_Missense_Mutation_p.S282L|LARP4_ENST00000429001.3_Missense_Mutation_p.S359L|LARP4_ENST00000293618.8_Missense_Mutation_p.S353L|LARP4_ENST00000518561.1_Missense_Mutation_p.S283L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	353							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GGCTTTAATTCGCCAGGATCT	0.343000													7	59					0	0	8.12818e-05	0	0
SBNO1	55206	broad.mit.edu	37	12	123782562	123782562	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:123782562G>A	ENST00000420886.2	-	30	4001	c.4002C>T	c.(4000-4002)atC>atT	p.I1334I	SBNO1_ENST00000602750.1_Silent_p.I1333I|SBNO1_ENST00000602398.1_Silent_p.I1334I|SBNO1_ENST00000267176.4_Silent_p.I1333I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1334							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTAGCCGCACGATCTGCATCT	0.433000													20	156					0	0	0.000229342	0	0
OR4N5	390437	broad.mit.edu	37	14	20612172	20612172	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:20612172C>T	ENST00000333629.1	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAGGTAATCTCCTATAGAAGC	0.478000													11	118					0	0	0.000978159	0	0
C10orf68	79741	broad.mit.edu	37	10	33143406	33143406	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:33143406C>T	ENST00000375030.2	+	22	2324	c.1706C>T	c.(1705-1707)cCt>cTt	p.P569L	C10orf68_ENST00000375025.4_Missense_Mutation_p.P674L|C10orf68_ENST00000375028.3_Missense_Mutation_p.P614L			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	610										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GTTGGAAAACCTACCTATAAA	0.343000													6	20					0	0	0.00116845	0	0
CLK2	1196	broad.mit.edu	37	1	155234037	155234037	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:155234037G>A	ENST00000368361.4	-	11	1516	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.P401S|CLK2_ENST00000361168.5_Missense_Mutation_p.P400S|CLK2_ENST00000355560.4_Missense_Mutation_p.P399S			P49760	CLK2_HUMAN	CDC-like kinase 2	401	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCCGGGAAGGGATAGGACCC	0.458000								Other conserved DNA damage response genes					10	110					0	0	0.000151284	0	0
HECW2	57520	broad.mit.edu	37	2	197298104	197298104	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:197298104C>T	ENST00000260983.2	-	2	226	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	15					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.R15Q(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGGGATTTCGACGCCTCAC	0.567000													7	40					0	0	0.000157383	0	0
METTL21C	196541	broad.mit.edu	37	13	103346730	103346730	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:103346730C>T	ENST00000267273.6	-	1	124	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	40							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TTCTAGGACTCCCCCGGTGCT	0.547000													6	45					0	0	0.000157383	0	0
TM6SF1	53346	broad.mit.edu	37	15	83805341	83805341	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:83805341G>A	ENST00000322019.9	+	10	1304	c.1030G>A	c.(1030-1032)Gtt>Att	p.V344I	TM6SF1_ENST00000379386.4_Missense_Mutation_p.V347I|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.V313I			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	344						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGCATATGGAGTTCTTCCTCA	0.358000													14	152					0	0	0.000422831	0	0
MAP10	54627	broad.mit.edu	37	1	232942478	232942478	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:232942478G>A	ENST00000418460.1	+	1	1836	c.1709G>A	c.(1708-1710)aGg>aAg	p.R570K		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		TGGTTATATAGGACTGAGGAT	0.448000													6	54					0	0	8.12818e-05	0	0
OR2T4	127074	broad.mit.edu	37	1	248525317	248525317	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248525317C>T	ENST00000366475.1	+	1	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAATTTTTCCTTCTAGCCA	0.517000													23	113					0	0	0.000375601	0	0
FCHO1	23149	broad.mit.edu	37	19	17875220	17875220	+	Silent	SNP	G	G	A	rs148025294		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:17875220G>A	ENST00000594202.1	+	6	435	c.156G>A	c.(154-156)gcG>gcA	p.A52A	FCHO1_ENST00000539407.1_Silent_p.A52A|FCHO1_ENST00000600676.1_Silent_p.A52A|FCHO1_ENST00000596536.1_Silent_p.A52A|FCHO1_ENST00000595033.1_Silent_p.A2A|FCHO1_ENST00000389133.4_Silent_p.A52A|FCHO1_ENST00000596951.1_Silent_p.A52A|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000597512.1_Silent_p.A59A|FCHO1_ENST00000252771.7_Silent_p.A52A	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	52	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGGCGATGGCGAAACTCTCCA	0.602000													7	39					0	0	0.000157383	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282492	52282492	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:52282492C>T	ENST00000301190.6	+	2	513	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGGCTGCAGGCTGGGGGCCCT	0.647000													7	61					0	0	8.12818e-05	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231754	142231754	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:142231754G>A	ENST00000390364.3	-	0	230																											AGGTCTTGTCGATACCAGAAC	0.488000													21	172					0	0	0.000295444	0	0
RASSF6	166824	broad.mit.edu	37	4	74442374	74442374	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:74442374G>A	ENST00000307439.5	-	9	1090	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	RASSF6_ENST00000335049.5_Missense_Mutation_p.R254C|RASSF6_ENST00000395777.2_Missense_Mutation_p.R232C|RASSF6_ENST00000342081.3_Missense_Mutation_p.R298C	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	298	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AGGAAAATGCGAGCATTCTTT	0.438000													24	199					0	0	0.00047179	0	0
CFTR	1080	broad.mit.edu	37	7	117175355	117175355	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:117175355C>T	ENST00000003084.6	+	6	765	c.633C>T	c.(631-633)ctC>ctT	p.L211L	CFTR_ENST00000454343.1_Silent_p.L211L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	211	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGCACTCCTCATGGGGCTAA	0.488000									Cystic Fibrosis				14	169					0	0	0.00074312	0	0
MYH11	4629	broad.mit.edu	37	16	15814883	15814883	+	Missense_Mutation	SNP	C	C	G	rs137934837	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:15814883C>G	ENST00000338282.6	-	33	4710	c.4604G>C	c.(4603-4605)cGg>cCg	p.R1535P	NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.R1542P|MYH11_ENST00000300036.5_Missense_Mutation_p.R1535P|MYH11_ENST00000452625.2_Missense_Mutation_p.R1542P|MYH11_ENST00000576790.1_Missense_Mutation_p.R1535P|NDE1_ENST00000342673.5_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1535					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTCCAGGGCCCGCTTGGACTT	0.602000			T	CBFB	AML								12	61					0	0	0.000151284	0	0
SLC8A1	6546	broad.mit.edu	37	2	40391997	40391997	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:40391997G>A	ENST00000406785.1	-	5	2247	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	SLC8A1_ENST00000402441.1_Silent_p.F686F|SLC8A1_ENST00000408028.2_Silent_p.F714F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F686F|SLC8A1_ENST00000405901.3_Silent_p.F717F|SLC8A1_ENST00000405269.1_Silent_p.F686F|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.F722F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F686F|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F717F|SLC8A1_ENST00000403092.1_Silent_p.F722F|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	722					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGCATACCTTGAATTCATAGG	0.512000													18	121					0	0	0.00121646	0	0
ATP8A1	10396	broad.mit.edu	37	4	42583715	42583715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:42583715G>A	ENST00000381668.5	-	10	988	c.757C>T	c.(757-759)Cga>Tga	p.R253*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R253*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	253					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGAGCTCCTCGAAGAAGAATC	0.408000													8	94					0	0	0.000673444	0	0
OR7G2	390882	broad.mit.edu	37	19	9213846	9213846	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9213846G>A	ENST00000305456.2	-	1	136	c.137C>T	c.(136-138)cCc>cTc	p.P46L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GAAAAGGACGGGCTGCAGTTC	0.502000													7	71					0	0	0.000274275	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183361	167183361	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:167183361G>A	ENST00000476257.1	-	5	877	c.579C>T	c.(577-579)ttC>ttT	p.F193F	SERPINI2_ENST00000461846.1_Silent_p.F193F|SERPINI2_ENST00000264677.4_Silent_p.F193F|SERPINI2_ENST00000471111.1_Silent_p.F193F			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	193					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCTCTTTTCTGAATTTCTGTT	0.358000													7	37					0	0	8.12818e-05	0	0
RARB	5915	broad.mit.edu	37	3	25635173	25635173	+	Silent	SNP	C	C	G	rs114613844	by1000genomes	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:25635173C>G	ENST00000330688.4	+	6	1387	c.966C>G	c.(964-966)ctC>ctG	p.L322L	RARB_ENST00000458646.1_Silent_p.L210L|RARB_ENST00000404969.1_Silent_p.L329L|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Silent_p.L210L	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	329	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGGCCTTCTCAGTGCCATCT	0.428000													13	40					0	0	0.000308642	0	0
FCRL3	115352	broad.mit.edu	37	1	157668209	157668209	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:157668209G>A	ENST00000368184.3	-	4	554	c.263C>T	c.(262-264)tCc>tTc	p.S88F	FCRL3_ENST00000368186.5_Missense_Mutation_p.S88F	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	88	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATCACTGAGGGAGGATCCTCG	0.463000													6	107					0	0	8.12818e-05	0	0
THSD7B	80731	broad.mit.edu	37	2	138169256	138169256	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:138169256G>A	ENST00000409968.1	+	14	2951	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E925K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E894K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTGTGATGAATTTATATC	0.458000													17	109					0	0	0.000566183	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166281	19166281	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:19166281T>A	ENST00000375371.3	-	6	2353	c.2332A>T	c.(2332-2334)Acc>Tcc	p.T778S		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	778					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GACATGAAGGTGCAGAGGGAG	0.572000													15	32					0	0	0.000219431	0	0
MFSD5	84975	broad.mit.edu	37	12	53647946	53647946	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:53647946G>T	ENST00000534842.1	+	2	1795	c.1648G>T	c.(1648-1650)Gag>Tag	p.E550*	MFSD5_ENST00000329548.4_Nonsense_Mutation_p.E443*	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	443					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCACCTACTGAGGAGCCCTA	0.547000													9	70					6.42651e-13	5.34068e-12	0.000978159	1	0
SELENBP1	8991	broad.mit.edu	37	1	151340775	151340775	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:151340775G>A	ENST00000426705.2	-	5	651	c.507C>T	c.(505-507)atC>atT	p.I169I	SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Silent_p.I65I|SELENBP1_ENST00000435071.1_Silent_p.I63I|SELENBP1_ENST00000368868.5_Silent_p.I127I	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	127					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTTGGCATGGATGTCCTTGG	0.562000													10	89					0	0	0.000442599	0	0
FAM217A	222826	broad.mit.edu	37	6	4069899	4069899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:4069899C>T	ENST00000274673.3	-	7	961	c.558G>A	c.(556-558)tgG>tgA	p.W186*	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	186																	GTTTCAAATTCCAATTTGGAG	0.318000													6	73					0	0	8.12818e-05	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401052	17401052	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:17401052C>T	ENST00000470360.1	+	4	441	c.324C>T	c.(322-324)atC>atT	p.I108I	SLC7A2_ENST00000398090.3_Silent_p.I108I|SLC7A2_ENST00000004531.10_Silent_p.I108I|SLC7A2_ENST00000494857.1_Silent_p.I68I|SLC7A2_ENST00000522656.1_Silent_p.I68I			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	68					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCCCAGCATCGTGGTGTCCT	0.617000													5	31					0	0	0.00116845	0	0
MYH4	4622	broad.mit.edu	37	17	10351220	10351220	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10351220T>A	ENST00000255381.2	-	34	4990	c.4880A>T	c.(4879-4881)aAt>aTt	p.N1627I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1627					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCCATTTCATTAAGATCTCC	0.463000													19	155					0	0	0.000229342	0	0
CASR	846	broad.mit.edu	37	3	121980881	121980881	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:121980881C>T	ENST00000498619.1	+	4	1437	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CASR_ENST00000296154.5_Silent_p.F333F|CASR_ENST00000490131.1_Silent_p.F333F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	333					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCGGGAATTCCTGAAGAAGG	0.537000													5	57					0	0	0.000602214	0	0
CSTF2	1478	broad.mit.edu	37	X	100077327	100077327	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:100077327G>A	ENST00000415585.2	+	3	247	c.225G>A	c.(223-225)cgG>cgA	p.R75R	CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Silent_p.R75R			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	75	RRM.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GTGCCATGCGGAACCTGAATG	0.473000													17	35					0	0	0.000422831	0	0
OR2B3	442184	broad.mit.edu	37	6	29054621	29054621	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:29054621G>A	ENST00000377173.2	-	1	469	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AATAATTCATGATGACTACAT	0.488000													7	73					0	0	0.000274275	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:31317540C>T	ENST00000265071.2	+	10	1836	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000													12	105					0	0	0.000978159	0	0
SEC22B	9554	broad.mit.edu	37	1	145109620	145109620	+	RNA	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:145109620A>G	ENST00000453618.1	+	0	609							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TGCACTCAGAATTTGATGAAC	0.448000													20	918					0	0	0.00121646	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161029468	161029468	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:161029468C>T	ENST00000368013.3	-	2	456	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E46K|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	46	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACTCCATACTCCTCCACAAAT	0.557000													16	100					0	0	0.000422831	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15443927	15443927	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:15443927G>A	ENST00000295297.4	+	3	654	c.395G>A	c.(394-396)gGa>gAa	p.G132E	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.G125E|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.G125E	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	125	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GGACCAAAGGGAGACAGAGGA	0.547000													9	128					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179596517	179596517	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179596517C>T	ENST00000589042.1	-	58	17309	c.17085G>A	c.(17083-17085)caG>caA	p.Q5695Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.Q4451Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.Q5378Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5378	Ig-like 38.						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)			ACTTGAGGATCTGCAGGCTAA	0.483000													7	101					0	0	8.12818e-05	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558339	106558339	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:106558339G>A	ENST00000526355.1	-	8	2603	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S733L|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S743L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	712					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S712L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TATTCTCGACGAAGAAAGAGA	0.478000													13	100					0	0	0.000219431	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002461	52002461	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:52002461C>T	ENST00000291707.3	-	4	1153	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	SIGLEC12_ENST00000598614.1_Silent_p.Q248Q	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	366	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGGTCAAGTTCTGAGGAGGAT	0.567000													5	71					0	0	0.000602214	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691718	106691718	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:106691718C>T	ENST00000390607.2	-	0	384																											TCAGGCTGTTCATTTGCAGAT	0.512000													17	134					0	0	0.000878237	0	0
UNC5D	137970	broad.mit.edu	37	8	35542215	35542215	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:35542215C>T	ENST00000453357.2	+	6	908	c.852C>T	c.(850-852)gcC>gcT	p.A284A	UNC5D_ENST00000416672.1_Silent_p.A289A|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Silent_p.A289A			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	289	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATGGTGGGGCCTTTTGTGAGG	0.507000													11	115					0	0	0.00010058	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803973	50803973	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:50803973C>T	ENST00000263046.4	+	5	994	c.828C>T	c.(826-828)ctC>ctT	p.L276L	TFAP2B_ENST00000393655.3_Silent_p.L267L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	267					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ATGCATCTCTCCTCGGCGGAG	0.458000													7	43					0	0	0.000442599	0	0
MAFA	389692	broad.mit.edu	37	8	144511677	144511677	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:144511677C>T	ENST00000333480.2	-	1	899	c.900G>A	c.(898-900)gtG>gtA	p.V300V	MAFA_ENST00000528185.1_Intron	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	300	Leucine-zipper.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CCAGGCGCCCCACCTCCAGCT	0.692000										HNSCC(29;0.082)			5	35					0	0	0.00116845	0	0
APCS	325	broad.mit.edu	37	1	159558147	159558147	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:159558147C>T	ENST00000255040.2	+	2	418	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	107	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCGAAAAGTTCCCGGCTCCAG	0.433000													12	55					0	0	0.000219431	0	0
MYT1L	23040	broad.mit.edu	37	2	1926616	1926616	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:1926616C>T	ENST00000399161.2	-	10	1672	c.925G>A	c.(925-927)Gga>Aga	p.G309R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G309R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	309					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCATGAGTCCGTTGTTCATG	0.483000													13	161					0	0	0.000151284	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683950	3683950	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:3683950G>A	ENST00000344754.4	-	5	1121	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	SIGLEC1_ENST00000202578.4_Silent_p.T374T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	374	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGCCGGAGGGTATGGGAGT	0.587000													8	69					0	0	0.000274275	0	0
SI	6476	broad.mit.edu	37	3	164704953	164704953	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:164704953G>A	ENST00000264382.3	-	45	5232	c.5170C>T	c.(5170-5172)Ctg>Ttg	p.L1724L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1724	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCCAAAACAGAGAACCCTGT	0.333000										HNSCC(35;0.089)			7	115					0	0	0.000442599	0	0
OR6F1	343169	broad.mit.edu	37	1	247875903	247875903	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:247875903G>A	ENST00000302084.2	-	1	202	c.155C>T	c.(154-156)tCc>tTc	p.S52F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAACTGATGGGAGGTGCTCAC	0.473000													15	95					0	0	0.000219431	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553074	117553074	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:117553074G>A	ENST00000374045.4	-	4	527	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TNFSF15_ENST00000374044.1_Silent_p.F61F	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	138					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GGATCAGCAGGAATTTGTTGG	0.498000													14	75					0	0	0.000308642	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215793	20215793	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:20215793C>T	ENST00000331723.1	+	1	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCTCTTTCATTGACCTAT	0.458000													14	108					0	0	0.000151284	0	0
KCNH6	81033	broad.mit.edu	37	17	61619792	61619792	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:61619792G>A	ENST00000583023.1	+	9	2156	c.2145G>A	c.(2143-2145)cgG>cgA	p.R715R	KCNH6_ENST00000456941.2_Silent_p.R662R|KCNH6_ENST00000581784.1_Silent_p.R662R|KCNH6_ENST00000314672.5_Silent_p.R715R	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	715					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCAACCTGCGGGACGTGAGTC	0.622000													14	44					0	0	0.000219431	0	0
EEF1E1	9521	broad.mit.edu	37	6	8102719	8102719	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:8102719C>T	ENST00000379715.5	-	1	92	c.36G>A	c.(34-36)aaG>aaA	p.K12K	EEF1E1_ENST00000429723.2_Silent_p.K12K|EEF1E1-MUTED_ENST00000397456.2_Silent_p.K12K|EEF1E1_ENST00000507463.1_Silent_p.K12K	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	12					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GTCCCAGGGACTTCTCCAGTA	0.627000													5	71					0	0	0.000602214	0	0
OR2T2	401992	broad.mit.edu	37	1	248616729	248616729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248616729C>T	ENST00000342927.3	+	1	653	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTTATCCCTCTATCTGT	0.532000													8	84					0	0	0.000442599	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947792	57947792	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:57947792G>A	ENST00000335397.3	+	3	1192	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACAGCCTGAGGAACAAGGAAG	0.468000													8	53					0	0	0.000442599	0	0
PSG2	5670	broad.mit.edu	37	19	43579626	43579626	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43579626C>T	ENST00000406487.1	-	3	687	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	197	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTGA	0.498000													24	276					0	0	0.00106085	0	0
NUP133	55746	broad.mit.edu	37	1	229623326	229623326	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:229623326G>A	ENST00000261396.3	-	10	1320	c.1229C>T	c.(1228-1230)cCa>cTa	p.P410L	NUP133_ENST00000537506.1_Missense_Mutation_p.P394L|NUP133_ENST00000366679.1_Missense_Mutation_p.P410L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	410					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGAAAAGTTTGGGACCGTCAA	0.348000													9	97					0	0	0.000673444	0	0
ZNF638	27332	broad.mit.edu	37	2	71592753	71592753	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:71592753C>T	ENST00000409544.1	+	6	2542	c.1912C>T	c.(1912-1914)Cgt>Tgt	p.R638C	ZNF638_ENST00000355812.3_Missense_Mutation_p.R638C|ZNF638_ENST00000264447.4_Missense_Mutation_p.R638C|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.R638C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	638					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.R638C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACATTCTATTCGTTGTAAATC	0.363000													5	39					0	0	0.000602214	0	0
HHLA2	11148	broad.mit.edu	37	3	108076794	108076794	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:108076794G>A	ENST00000357759.5	+	6	1203	c.789G>A	c.(787-789)atG>atA	p.M263I	HHLA2_ENST00000489514.2_Missense_Mutation_p.M263I|HHLA2_ENST00000467562.1_Missense_Mutation_p.M199I|HHLA2_ENST00000491820.1_Missense_Mutation_p.M263I|HHLA2_ENST00000467761.1_Missense_Mutation_p.M263I	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	263	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGTCCAGAATGAAAAGTGGGA	0.383000													44	153					0	0	0.000680045	0	0
KIF20B	9585	broad.mit.edu	37	10	91498211	91498211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:91498211C>T	ENST00000416354.1	+	20	3775	c.3703C>T	c.(3703-3705)Caa>Taa	p.Q1235*	KIF20B_ENST00000394289.2_Nonsense_Mutation_p.Q1205*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.Q1165*|KIF20B_ENST00000371728.3_Nonsense_Mutation_p.Q1205*			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1205					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAGGAATTTCAAGAACATCT	0.318000													17	58					0	0	0.000422831	0	0
RP1	6101	broad.mit.edu	37	8	55539221	55539221	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55539221C>T	ENST00000220676.1	+	4	2927	c.2779C>T	c.(2779-2781)Cca>Tca	p.P927S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	927					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAATCCATATCCAACTTTAAA	0.328000													6	39					0	0	8.12818e-05	0	0
AGTR1	185	broad.mit.edu	37	3	148459402	148459402	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:148459402G>A	ENST00000542281.1	+	4	1026	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	AGTR1_ENST00000474935.1_Missense_Mutation_p.G194R|AGTR1_ENST00000418473.2_Missense_Mutation_p.G194R|AGTR1_ENST00000461609.1_Missense_Mutation_p.G194R|AGTR1_ENST00000497524.1_Missense_Mutation_p.G194R|AGTR1_ENST00000349243.3_Missense_Mutation_p.G194R|AGTR1_ENST00000475347.1_Missense_Mutation_p.G194R|AGTR1_ENST00000402260.1_Missense_Mutation_p.G194R|AGTR1_ENST00000404754.2_Missense_Mutation_p.G194R	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	194					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCTCCCGATAGGGCTGGGCCT	0.383000													15	44					0	0	0.000422831	0	0
COL4A5	1287	broad.mit.edu	37	X	107924160	107924160	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:107924160G>A	ENST00000328300.6	+	46	4305	c.4061G>A	c.(4060-4062)gGg>gAg	p.G1354E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1348E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1348	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTGAGGGGGAACCGGGA	0.443000									Alport syndrome with Diffuse Leiomyomatosis				8	28					0	0	0.000673444	0	0
MTRR	4552	broad.mit.edu	37	5	7891493	7891493	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:7891493C>T	ENST00000264668.2	+	10	1447	c.1417C>T	c.(1417-1419)Cct>Tct	p.P473S	MTRR_ENST00000440940.2_Missense_Mutation_p.P446S	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	473	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGAACATCTTCCTAAACTTCA	0.289000													8	82					0	0	0.000442599	0	0
PDK4	5166	broad.mit.edu	37	7	95222230	95222230	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:95222230C>T	ENST00000005178.5	-	4	568	c.371G>A	c.(370-372)cGa>cAa	p.R124Q		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	124					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GTGTCTATTTCGAACTTTGAT	0.348000													9	89					0	0	0.00010058	0	0
ZNF536	9745	broad.mit.edu	37	19	30936037	30936037	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:30936037C>T	ENST00000355537.3	+	2	1715	c.1568C>T	c.(1567-1569)gCt>gTt	p.A523V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	523					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)					AGCTACCAGGCTTGGCAGCTC	0.617000													9	100					0	0	0.000442599	0	0
MAN1A1	4121	broad.mit.edu	37	6	119628140	119628140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:119628140C>T	ENST00000368468.3	-	3	1062	c.621G>A	c.(619-621)tgG>tgA	p.W207*	MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.W230*	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	207					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TATAATTATTCCAAGCATGTT	0.318000													12	102					0	0	0.00010058	0	0
DBF4	10926	broad.mit.edu	37	7	87537097	87537097	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:87537097G>T	ENST00000265728.1	+	12	2148	c.1644G>T	c.(1642-1644)aaG>aaT	p.K548N		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	548					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TTCAGGCAAAGGCTCCATTCC	0.368000													10	100					3.07112e-06	2.54934e-05	0.000978159	1	0
ACOX3	8310	broad.mit.edu	37	4	8416051	8416051	+	Missense_Mutation	SNP	G	G	A	rs140131783	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:8416051G>A	ENST00000356406.5	-	5	588	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	ACOX3_ENST00000503233.1_Missense_Mutation_p.R171C|ACOX3_ENST00000413009.2_Missense_Mutation_p.R171C	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	171					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAGTTGTGCGAATGGCCTTG	0.463000													9	104					0	0	0.000442599	0	0
ASTN1	460	broad.mit.edu	37	1	176915167	176915167	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:176915167C>T	ENST00000367654.2	-	13	2181	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S715N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S715N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S715N			O14525	ASTN1_HUMAN	astrotactin 1	723					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAGCTCCCTGCTTTCCCCACA	0.537000													6	94					0	0	0.00116845	0	0
CPT1B	1375	broad.mit.edu	37	22	51011383	51011383	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:51011383A>C	ENST00000360719.2	-	11	1410	c.1273T>G	c.(1273-1275)Tcc>Gcc	p.S425A	CPT1B_ENST00000405237.3_Missense_Mutation_p.S425A|CPT1B_ENST00000434492.2_Missense_Mutation_p.S222A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.S391A|CPT1B_ENST00000395650.2_Missense_Mutation_p.S425A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000312108.7_Missense_Mutation_p.S425A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	425					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TAGGAGTAGGATTCCTCATCC	0.602000													16	169					0	0	0.000422831	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:22382594G>A	ENST00000328795.4	+	1	213	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000													19	233					0	0	0.00121646	0	0
LSG1	55341	broad.mit.edu	37	3	194369450	194369450	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:194369450G>A	ENST00000265245.5	-	11	1817	c.1503C>T	c.(1501-1503)caC>caT	p.H501H		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	501					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TTGGAGGTCGGTGGGGATCTT	0.393000													25	76					0	0	0.000586117	0	0
KAT7	11143	broad.mit.edu	37	17	47895285	47895285	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:47895285C>T	ENST00000503935.2	+	9	1635	c.599C>T	c.(598-600)cCt>cTt	p.P200L	KAT7_ENST00000509773.1_Missense_Mutation_p.P246L|KAT7_ENST00000435742.2_Missense_Mutation_p.P170L|KAT7_ENST00000454930.2_Missense_Mutation_p.P217L|KAT7_ENST00000259021.4_Missense_Mutation_p.P356L|KAT7_ENST00000510819.1_Missense_Mutation_p.P187L|KAT7_ENST00000513980.1_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.P326L			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	356					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCTCCATATCCTGAAGAATAT	0.428000													6	85					0	0	0.00116845	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259989	90259989	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:90259989C>T	ENST00000471857.1	+	0	273																											CAGTCTCCATCCTTACTCTCT	0.423000													9	32					0	0	0.000442599	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810551	140810551	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140810551C>T	ENST00000252085.3	+	1	367	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAATC	0.632000													6	95					0	0	8.12818e-05	0	0
BSN	8927	broad.mit.edu	37	3	49694662	49694662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:49694662C>T	ENST00000296452.4	+	5	7787	c.7673C>T	c.(7672-7674)tCc>tTc	p.S2558F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2558					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)		AAGCGGCACTCCATGCCACGC	0.622000													8	46					0	0	0.000442599	0	0
LILRA4	23547	broad.mit.edu	37	19	54849442	54849442	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:54849442G>A	ENST00000291759.4	-	4	476	c.420C>T	c.(418-420)acC>acT	p.T140T		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	140	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACACCGGAGGGTCACGTTCA	0.567000													6	57					0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9072723	9072723	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9072723G>A	ENST00000397910.4	-	3	14926	c.14723C>T	c.(14722-14724)tCg>tTg	p.S4908L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4910	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGTGGACGAGGTGATCTC	0.493000													19	171					0	0	0.00074312	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806809	15806809	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:15806809C>T	ENST00000550308.1	+	10	1559	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	CYP4F12_ENST00000324632.9_Silent_p.P393P	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGTTACATCCCCCAGCTCCCT	0.602000													18	68					0	0	0.00074312	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399799	90399799	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:90399799C>T	ENST00000337338.5	+	3	1579	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	LRRC8D_ENST00000394593.3_Missense_Mutation_p.P391L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	391						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TTCAGGATACCTTTGAAGGAA	0.368000													19	87					0	0	0.00074312	0	0
EFHB	151651	broad.mit.edu	37	3	19975233	19975233	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:19975233C>T	ENST00000295824.9	-	1	439	c.278G>A	c.(277-279)aGt>aAt	p.S93N	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	93					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AGCTGAGACACTGTCGACTCC	0.428000													10	140					0	0	0.00010058	0	0
ANO3	63982	broad.mit.edu	37	11	26660733	26660733	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:26660733G>A	ENST00000256737.3	+	21	2938	c.2086G>A	c.(2086-2088)Ggt>Agt	p.G696S	ANO3_ENST00000531568.1_Missense_Mutation_p.G550S|ANO3_ENST00000525139.1_Missense_Mutation_p.G680S|ANO3_ENST00000537978.1_Missense_Mutation_p.G680S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	696						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CCTCCAGATGGGTGTCATCAT	0.398000													6	39					0	0	8.12818e-05	0	0
ADAM18	8749	broad.mit.edu	37	8	39506007	39506007	+	Silent	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:39506007T>C	ENST00000265707.5	+	12	1236	c.1191T>C	c.(1189-1191)atT>atC	p.I397I	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Silent_p.I373I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	397	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTAATGGGATTTTGGAATCCA	0.308000													4	24					0	0	0.000602214	0	0
OR7C2	26658	broad.mit.edu	37	19	15052342	15052342	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:15052342C>T	ENST00000248072.3	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ACTTTCTCCTCCTGGGATTCG	0.493000													15	77					0	0	0.000219431	0	0
CHRM3	1131	broad.mit.edu	37	1	240071543	240071543	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:240071543G>A	ENST00000255380.4	+	5	1571	c.792G>A	c.(790-792)gaG>gaA	p.E264E		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	264					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTACCAAAGAGCTTGCTGGCC	0.473000													14	84					0	0	0.000219431	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018069	112018069	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:112018069G>A	ENST00000374566.3	-	10	1501	c.984C>T	c.(982-984)gtC>gtT	p.V328V	EPB41L4B_ENST00000374557.4_Silent_p.V328V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	328	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCATCCTCGACCACCACGA	0.458000													8	88					0	0	0.000274275	0	0
TENM1	10178	broad.mit.edu	37	X	123805605	123805605	+	Silent	SNP	T	T	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:123805605T>G	ENST00000422452.2	-	6	1159	c.1096A>C	c.(1096-1098)Agg>Cgg	p.R366R	TENM1_ENST00000371130.3_Silent_p.R366R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCGGTCCCCCTGTTCCCTTTG	0.438000													6	47					0	0	0.000274275	0	0
FBXW4	6468	broad.mit.edu	37	10	103433373	103433373	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:103433373G>A	ENST00000331272.7	-	3	1032	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	138					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGGCCAGGATGAAATTAGCCT	0.478000													9	51					0	0	0.000442599	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904826	205904826	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:205904826G>A	ENST00000367135.3	-	2	236	c.123C>T	c.(121-123)ttC>ttT	p.F41F	SLC26A9_ENST00000367134.2_Silent_p.F41F|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Silent_p.F41F	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	41						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGTTACCTGAAGGCATTGC	0.537000													24	204					0	0	0.00127121	0	0
KL	9365	broad.mit.edu	37	13	33638031	33638031	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:33638031C>T	ENST00000380099.3	+	5	2755	c.2747C>T	c.(2746-2748)tCg>tTg	p.S916L	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	916	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTGCTTATTCGTTTAACGAC	0.418000													19	182					0	0	0.000229342	0	0
STAB1	23166	broad.mit.edu	37	3	52545756	52545756	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:52545756G>A	ENST00000321725.6	+	26	2954	c.2878G>A	c.(2878-2880)Ggc>Agc	p.G960S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	960	EGF-like 9.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGCTGCCACGGCCTGGTAAG	0.662000													4	18					0	0	0.00024832	0	0
KIF4B	285643	broad.mit.edu	37	5	154395849	154395849	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:154395849G>A	ENST00000435029.4	+	1	2590	c.2430G>A	c.(2428-2430)ttG>ttA	p.L810L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	810	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCAAGTTTTGGAGTCAGAAG	0.438000													7	31					0	0	0.000157383	0	0
TTC31	64427	broad.mit.edu	37	2	74720143	74720143	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:74720143C>T	ENST00000233623.5	+	13	1365	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	453							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGCCTACCTTCCCTCAGGTGC	0.617000													26	219					0	0	0.000878237	0	0
OR6C75	390323	broad.mit.edu	37	12	55759573	55759573	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:55759573C>T	ENST00000343399.3	+	1	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCTGAAAATTCCTTCTATGAG	0.383000													10	65					0	0	0.000673444	0	0
PTK7	5754	broad.mit.edu	37	6	43109528	43109528	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:43109528C>T	ENST00000230419.4	+	11	1962	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	PTK7_ENST00000345201.2_Missense_Mutation_p.R541C|PTK7_ENST00000352931.2_Missense_Mutation_p.R581C|PTK7_ENST00000349241.2_Missense_Mutation_p.R451C|PTK7_ENST00000481273.1_Missense_Mutation_p.R589C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	581	Ig-like C2-type 6.|Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCCAGATTCGTGCCCATGT	0.657000													12	145					0	0	0.000219431	0	0
ZIC1	7545	broad.mit.edu	37	3	147128382	147128382	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:147128382G>A	ENST00000282928.4	+	1	1212	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	161					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGGTCAACGGGCAGATGAGGC	0.711000													12	26					0	0	0.000151284	0	0
IRX5	10265	broad.mit.edu	37	16	54967364	54967364	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:54967364C>T	ENST00000394636.4	+	3	1368	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	IRX5_ENST00000320990.5_Missense_Mutation_p.S343L|IRX5_ENST00000558597.1_Missense_Mutation_p.S278L|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	344					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCCACATCGTCGGACAAGGTC	0.706000													6	27					0	0	0.000274275	0	0
MYH13	8735	broad.mit.edu	37	17	10209806	10209806	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10209806C>T	ENST00000418404.3	-	36	5599	c.5436G>A	c.(5434-5436)ggG>ggA	p.G1812G	MYH13_ENST00000570743.1_Silent_p.G1812G|MYH13_ENST00000252172.4_Silent_p.G1812G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1812					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGCTTCTTCCCGCCCTTCA	0.552000													16	229					0	0	0.000375601	0	0
RSPO2	340419	broad.mit.edu	37	8	108973025	108973025	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:108973025C>T	ENST00000276659.5	-	4	924	c.304G>A	c.(304-306)Gat>Aat	p.D102N	RSPO2_ENST00000517939.1_Missense_Mutation_p.D35N|RSPO2_ENST00000517781.1_Missense_Mutation_p.D39N|RSPO2_ENST00000378439.2_Missense_Mutation_p.D39N	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	102					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AAGCAAGAATCACAGTTTTCT	0.303000													5	17					0	0	0.000602214	0	0
RP11-19N8.2	0	broad.mit.edu	37	16	33020956	33020956	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:33020956G>A	ENST00000567619.1	-	0	499																											CACAGCGAGGGGAAGTCAGTG	0.587000													8	199					0	0	0.000274275	0	0
NUP205	23165	broad.mit.edu	37	7	135261109	135261109	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:135261109C>T	ENST00000285968.6	+	4	461	c.435C>T	c.(433-435)tcC>tcT	p.S145S	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	145					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCGAATTCCTTGAAAGCCT	0.428000													7	90					0	0	0.000157383	0	0
PCSK5	5125	broad.mit.edu	37	9	78784740	78784740	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:78784740G>A	ENST00000545128.1	+	13	2278	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	PCSK5_ENST00000376767.3_Silent_p.R580R|PCSK5_ENST00000376752.4_Silent_p.R580R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	580	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCAGCTAAGGAACTTTAAGA	0.423000													6	90					0	0	8.12818e-05	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090529	22090529	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:22090529G>A	ENST00000542354.1	+	0	201																											AGACATCTGGGTTTTATGGGC	0.498000													14	101					0	0	0.000566183	0	0
GABRA3	2556	broad.mit.edu	37	X	151376473	151376473	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:151376473C>T	ENST00000370314.4	-	7	1016	c.778_splice	c.e7+1	p.G260_splice	GABRA3_ENST00000370311.1_Splice_Site_p.G260_splice|GABRA3_ENST00000535043.1_Splice_Site_p.G260_splice	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	260					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGTTAAATACCTGTACTAGAC	0.378000													11	22					0	0	0.00010058	0	0
C10orf54	64115	broad.mit.edu	37	10	73511448	73511448	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:73511448C>T	ENST00000394957.3	-	6	933	c.875G>A	c.(874-876)gGa>gAa	p.G292E	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	292						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAAGACGTCTCCGGGGCCTGG	0.622000													12	48					0	0	0.000219431	0	0
TLL2	7093	broad.mit.edu	37	10	98138808	98138808	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:98138808C>T	ENST00000357947.3	-	17	2461	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	746	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTGACGCACTCATGCTGACAC	0.562000													24	121					0	0	0.000720815	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430974	37430974	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:37430974C>T	ENST00000374660.1	+	7	1080	c.981C>T	c.(979-981)atC>atT	p.I327I	ANKRD30A_ENST00000602533.1_Silent_p.I327I|ANKRD30A_ENST00000361713.1_Silent_p.I327I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	383						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I327I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.433000													12	88					0	0	0.00010058	0	0
GLG1	2734	broad.mit.edu	37	16	74542786	74542786	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:74542786G>A	ENST00000422840.2	-	3	508	c.509C>T	c.(508-510)cCc>cTc	p.P170L	GLG1_ENST00000205061.5_Missense_Mutation_p.P170L|GLG1_ENST00000447066.2_Missense_Mutation_p.P159L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	170						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCAAATTTGGGATCTGTAGT	0.333000													9	97					0	0	0.000442599	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031725	132031725	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:132031725C>T	ENST00000314099.8	-	1	481	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	145						integral to membrane				endometrium(1)|lung(1)	2						CAGAGGATTTCATCCTCAAGT	0.403000													14	166					0	0	0.000566183	0	0
USH2A	7399	broad.mit.edu	37	1	215848644	215848644	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:215848644C>T	ENST00000366943.2	-	63	12995	c.12609G>A	c.(12607-12609)caG>caA	p.Q4203Q	USH2A_ENST00000307340.3_Silent_p.Q4203Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4203	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGGATTGTCTGATTTCCCC	0.423000										HNSCC(13;0.011)			20	139					0	0	0.000175454	0	0
TRPM3	80036	broad.mit.edu	37	9	73477836	73477836	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:73477836G>A	ENST00000377110.2	-	3	693	c.450C>T	c.(448-450)tcC>tcT	p.S150S	TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000423814.3_Silent_p.S152S|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000357533.2_Silent_p.S152S|TRPM3_ENST00000377111.2_Silent_p.S150S|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	150						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGCTTTGTTGGAATGGCCAC	0.458000													13	61					0	0	0.000422831	0	0
DNAH7	56171	broad.mit.edu	37	2	196619143	196619143	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:196619143C>T	ENST00000312428.6	-	63	11782	c.11682G>A	c.(11680-11682)agG>agA	p.R3894R	DNAH7_ENST00000409063.1_Silent_p.R377R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3894					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTGTATTTCCTGGCGTAGT	0.478000													9	61					0	0	0.000274275	0	0
KRT5	3852	broad.mit.edu	37	12	52911920	52911920	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:52911920G>A	ENST00000252242.4	-	3	1188	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	266	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCAGCAGTGGTACGCTTGT	0.493000													13	153					0	0	0.000308642	0	0
DRD1	1812	broad.mit.edu	37	5	174868893	174868893	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:174868893C>T	ENST00000393752.2	-	2	2202	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	404					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GCTGCCTCCTCCTTTTTCAGG	0.542000													6	60					0	0	0.00116845	0	0
ZNF668	79759	broad.mit.edu	37	16	31073072	31073072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:31073072G>A	ENST00000417110.2	+	1	260	c.260G>A	c.(259-261)tGg>tAg	p.W87*	ZNF668_ENST00000426488.2_Missense_Mutation_p.H416Y|ZNF668_ENST00000538906.1_Missense_Mutation_p.H393Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.H393Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.H393Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.H393Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.H416Y			Q96K58	ZN668_HUMAN	zinc finger protein 668	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGTTACAGTGGAAGGGGCGC	0.667000													20	199					0	0	0.000375601	0	0
CCR5	1234	broad.mit.edu	37	3	46414444	46414444	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:46414444G>A	ENST00000343801.4	+	3	408	c.51G>A	c.(49-51)tcG>tcA	p.S17S	CCR5_ENST00000292303.4_Silent_p.S17S|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Silent_p.S17S	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	17					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ATTATACATCGGAGCCCTGCC	0.428000													19	270					0	0	0.000958276	0	0
IQGAP2	10788	broad.mit.edu	37	5	75979727	75979727	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:75979727G>A	ENST00000274364.6	+	30	4187	c.3890G>A	c.(3889-3891)cGa>cAa	p.R1297Q	IQGAP2_ENST00000396234.3_Missense_Mutation_p.R793Q|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R793Q|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R799Q	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1297					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAGATAGCCGAAGCCTCATG	0.388000													4	35					0	0	0.000602214	0	0
NLRP9	338321	broad.mit.edu	37	19	56241279	56241279	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:56241279C>T	ENST00000332836.2	-	3	1939	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	638						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTATTTTCCATGTCTAAA	0.423000													17	87					0	0	0.000566183	0	0
CLCN1	1180	broad.mit.edu	37	7	143029525	143029525	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:143029525C>T	ENST00000343257.2	+	11	1267	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	394					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)					CCTGCTGTATCCTGGAATTGT	0.468000													14	93					0	0	0.000422831	0	0
PSG4	5672	broad.mit.edu	37	19	43699294	43699294	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43699294G>A	ENST00000405312.3	-	4	1078	c.841C>T	c.(841-843)Cct>Tct	p.P281S	PSG4_ENST00000433626.2_Missense_Mutation_p.P188S|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	281	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGACTGACAGGGAGGCTCTGA	0.443000													42	310					0	0	0.000781405	0	0
KCNK9	51305	broad.mit.edu	37	8	140630697	140630697	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:140630697C>T	ENST00000520439.1	-	2	992	c.929G>A	c.(928-930)cGc>cAc	p.R310H	KCNK9_ENST00000303015.1_Missense_Mutation_p.R310H			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	310						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.R310H(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TGCCACCGAGCGGCCGCCATA	0.622000													10	88					0	0	0.000673444	0	0
OR5K1	26339	broad.mit.edu	37	3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:98188932C>T	ENST00000332650.5	+	1	609	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398000													26	73					0	0	0.00106085	0	0
FAT3	120114	broad.mit.edu	37	11	92523277	92523277	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:92523277G>A	ENST00000298047.6	+	7	4521	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1502N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1352N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1502	Cadherin 14.				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)				TAGCAGCATCGACTCCATCAG	0.507000										TCGA Ovarian(4;0.039)			48	320					0	0	0.000781405	0	0
SRRM2	23524	broad.mit.edu	37	16	2816169	2816169	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:2816169C>T	ENST00000301740.8	+	11	6189	c.5640C>T	c.(5638-5640)acC>acT	p.T1880T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1880	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGTCCAGAACCCCCCTGATAA	0.597000													6	74					0	0	0.00116845	0	0
KCND2	3751	broad.mit.edu	37	7	120385937	120385937	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:120385937G>A	ENST00000331113.4	+	5	2536	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	524					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCACAACAAGGAGTCACCAGC	0.448000													7	54					0	0	0.000274275	0	0
OR4M2	390538	broad.mit.edu	37	15	22369154	22369154	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:22369154C>T	ENST00000332663.2	+	1	677	c.579C>T	c.(577-579)ttC>ttT	p.F193F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCAACACCTTCCCAGAGGAGT	0.473000													9	93					0	0	0.000978159	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453345	22453345	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:22453345G>A	ENST00000390283.2	+	0	137																											GGTGACCCAGGAGCCATCGTT	0.517000													6	49					0	0	8.12818e-05	0	0
SYTL2	54843	broad.mit.edu	37	11	85445395	85445395	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:85445395G>A	ENST00000316356.4	-	7	1541	c.977C>T	c.(976-978)tCc>tTc	p.S326F	SYTL2_ENST00000527523.1_Missense_Mutation_p.S277F|SYTL2_ENST00000528231.1_Missense_Mutation_p.S325F|SYTL2_ENST00000389960.4_Missense_Mutation_p.S325F|SYTL2_ENST00000524452.1_Missense_Mutation_p.S325F			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	325					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.S326F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGCTCCAGGGAGTTTGGGGA	0.448000													14	120					0	0	0.000308642	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280695	105280695	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:105280695G>A	ENST00000327674.4	-	1	690	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	SERPINA7_ENST00000372563.1_Silent_p.L119L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	119					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGAAAATTCAGTGAACAGATC	0.463000													12	33					0	0	0.000978159	0	0
PHC3	80012	broad.mit.edu	37	3	169846701	169846701	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:169846701G>A	ENST00000494943.1	-	8	1591	c.1523C>T	c.(1522-1524)tCt>tTt	p.S508F	PHC3_ENST00000495893.1_Missense_Mutation_p.S520F|PHC3_ENST00000467570.1_Missense_Mutation_p.S467F			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	508	Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGCTGGAGGAGATGTCGACAT	0.517000													23	66					0	0	0.000375601	0	0
CHD6	84181	broad.mit.edu	37	20	40052213	40052213	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:40052213C>T	ENST00000373233.3	-	30	4651	c.4474G>A	c.(4474-4476)Gat>Aat	p.D1492N		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1492					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGCTCTCATCCGACTTCTTG	0.433000													27	254					0	0	0.000878237	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685508	111685508	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:111685508G>A	ENST00000431670.2	+	14	3537	c.3126G>A	c.(3124-3126)ttG>ttA	p.L1042L	PHLDB2_ENST00000481953.1_Silent_p.L999L|PHLDB2_ENST00000412622.1_Silent_p.L999L|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000393923.3_Silent_p.L1026L|PHLDB2_ENST00000393925.3_Silent_p.L1042L|PHLDB2_ENST00000495180.1_Silent_p.L533L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1042						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAGACTTTTGAAGCAGGCTC	0.463000													11	59					0	0	0.00010058	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552569	1552569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:1552569C>T	ENST00000381605.4	-	3	612	c.548G>A	c.(547-549)tGg>tAg	p.W183*	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	183	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ATTTTTGAACCATTTCAGGGT	0.587000													11	94					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179568985	179568985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179568985C>T	ENST00000589042.1	-	106	30336	c.30112G>A	c.(30112-30114)Gtg>Atg	p.V10038M	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V8794M|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V9721M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9721	Glu-rich.						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)			TTGTGTTCCACTTCTGTTTTA	0.408000													9	88					0	0	0.000442599	0	0
DSCAM	1826	broad.mit.edu	37	21	41459101	41459101	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr21:41459101C>T	ENST00000400454.1	-	22	4441	c.3964G>A	c.(3964-3966)Gac>Aac	p.D1322N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1322	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTTACCTGTCTTTCATCCAT	0.448000													7	84					0	0	0.000157383	0	0
TDRD1	56165	broad.mit.edu	37	10	115947891	115947891	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:115947891G>A	ENST00000251864.2	+	2	454	c.301G>A	c.(301-303)Gga>Aga	p.G101R	TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.G101R|TDRD1_ENST00000369281.2_Missense_Mutation_p.G101R|TDRD1_ENST00000369280.1_Missense_Mutation_p.G101R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	101					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.G101R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGCTCCAAAGGAGACAGGAA	0.413000													27	95					0	0	0.000878237	0	0
PDE1B	5153	broad.mit.edu	37	12	54969376	54969376	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:54969376C>T	ENST00000243052.3	+	12	1663	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.L368L|PDE1B_ENST00000550620.1_Silent_p.L389L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	409	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TTTCTCCACTCTGTGACCGCA	0.572000													14	107					0	0	0.00074312	0	0
ABCC11	85320	broad.mit.edu	37	16	48244950	48244950	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:48244950C>T	ENST00000394747.1	-	10	1866	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E	ABCC11_ENST00000356608.2_Missense_Mutation_p.G506E|ABCC11_ENST00000537808.1_Missense_Mutation_p.G506E|ABCC11_ENST00000353782.5_Missense_Mutation_p.G506E|ABCC11_ENST00000394748.1_Missense_Mutation_p.G506E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	506						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCTGGTCATCCCCTCAGAAGC	0.597000													12	59					0	0	0.00010058	0	0
APCS	325	broad.mit.edu	37	1	159558417	159558417	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:159558417C>T	ENST00000255040.2	+	2	688	c.591C>T	c.(589-591)ctC>ctT	p.L197L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	197	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GTACCCCTCTCCCTGCCAATA	0.507000													5	60					0	0	0.000602214	0	0
ENAH	55740	broad.mit.edu	37	1	225718287	225718287	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:225718287G>A	ENST00000366844.2	-	4	854	c.403C>T	c.(403-405)Cca>Tca	p.P135S	ENAH_ENST00000284563.6_Missense_Mutation_p.P154S|ENAH_ENST00000366843.2_Missense_Mutation_p.P135S|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	135					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TCTTGGGATGGGCCATTTTGA	0.353000													12	149					0	0	0.000308642	0	0
ATP11A	23250	broad.mit.edu	37	13	113513726	113513726	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:113513726C>T	ENST00000487903.1	+	23	2775	c.2687C>T	c.(2686-2688)cCt>cTt	p.P896L	ATP11A_ENST00000375630.2_Missense_Mutation_p.P896L|ATP11A_ENST00000375645.3_Missense_Mutation_p.P896L|ATP11A_ENST00000283558.8_Missense_Mutation_p.P896L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	896					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTCATCTTCCCTCAGTTTTTA	0.547000													13	98					0	0	0.000308642	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:25442574G>A	ENST00000424208.1	+	0	1550				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGGCCCCGGGAAAATGTCCC	0.602000													3	10					0	0	6.4e-05	0	0
AXL	558	broad.mit.edu	37	19	41754462	41754462	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:41754462G>A	ENST00000301178.4	+	13	1771	c.1581G>A	c.(1579-1581)cgG>cgA	p.R527R	AXL_ENST00000593513.1_Silent_p.R259R|AXL_ENST00000359092.3_Silent_p.R518R	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	527						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGAAGCTGCGGGATGTGATGG	0.577000													4	64					0	0	8.12818e-05	0	0
ENPEP	2028	broad.mit.edu	37	4	111397993	111397993	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:111397993C>T	ENST00000265162.5	+	1	765	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	141					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGACCAGGATCACCCGGCTCC	0.637000													16	136					0	0	0.000566183	0	0
ANK2	287	broad.mit.edu	37	4	114257035	114257035	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:114257035G>A	ENST00000357077.4	+	30	3466	c.3413G>A	c.(3412-3414)cGa>cAa	p.R1138Q	ANK2_ENST00000509550.1_Missense_Mutation_p.R314Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R1129Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1138Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R1105Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1105					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAGAAACGAATCTGCCGC	0.458000													14	69					0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9089598	9089598	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:9089598C>T	ENST00000397910.4	-	1	2420	c.2217G>A	c.(2215-2217)gcG>gcA	p.A739A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	739	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGCTGGTCGCTGACACTT	0.493000													19	113					0	0	0.000295444	0	0
NKAPL	222698	broad.mit.edu	37	6	28227578	28227578	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:28227578C>T	ENST00000343684.3	+	1	481	c.429C>T	c.(427-429)ttC>ttT	p.F143F		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	143										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CTCCAAAGTTCCCTCAGCTAG	0.517000													20	199					0	0	0.000295444	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028410	44028410	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:44028410G>A	ENST00000381680.2	-	0	1374					NR_002318.2																						ATTGTGCAAGGAGTTTGAGAG	0.512000													20	199					0	0	0.000295444	0	0
MYH4	4622	broad.mit.edu	37	17	10362664	10362664	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10362664G>A	ENST00000255381.2	-	15	1601	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	497	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCCAGCACGAACATGTGGT	0.483000													12	124					0	0	0.000151284	0	0
ZNF234	10780	broad.mit.edu	37	19	44660662	44660662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:44660662C>T	ENST00000426739.2	+	6	751	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	ZNF234_ENST00000592437.1_Missense_Mutation_p.L165F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CAACTTTGATCTTCATCAACA	0.398000													7	70					0	0	0.000157383	0	0
GPR26	2849	broad.mit.edu	37	10	125447529	125447529	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:125447529C>T	ENST00000284674.1	+	3	920	c.867C>T	c.(865-867)tcC>tcT	p.S289S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	289					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGGCCGCATCCGACCCCTTTG	0.602000													11	84					0	0	0.000978159	0	0
XCR1	2829	broad.mit.edu	37	3	46063436	46063436	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:46063436C>T	ENST00000309285.3	-	2	360	c.4G>A	c.(4-6)Gag>Aag	p.E2K	XCR1_ENST00000542109.1_Missense_Mutation_p.E2K	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	2					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCTGAGGACTCCATCTGGACC	0.522000													13	54					0	0	0.000219431	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559208	129559208	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:129559208C>T	ENST00000422113.2	-	9	2838	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E376K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	838						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTGTCCTTCCTGACTCCCC	0.542000													5	72					0	0	0.000602214	0	0
OR51E1	143503	broad.mit.edu	37	11	4674628	4674628	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:4674628C>T	ENST00000530215.1	+	2	243	c.202C>T	c.(202-204)Caa>Taa	p.Q68*	OR51E1_ENST00000396952.5_Missense_Mutation_p.P291L			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCTCAACCCAATTGTCTAT	0.512000													12	88					0	0	0.000151284	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110030084	110030084	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:110030084C>T	ENST00000453089.2	+	3	1805	c.924C>T	c.(922-924)atC>atT	p.I308I	ZC3H12C_ENST00000528673.1_Silent_p.I340I|ZC3H12C_ENST00000278590.3_Silent_p.I339I			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	339							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ACAGGTTCATCGTGAAGCTGG	0.468000													7	31					0	0	0.000274275	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192440	133192440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:133192440C>T	ENST00000388996.4	-	4	1161	c.741G>A	c.(739-741)tgG>tgA	p.W247*	KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.W247*|KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.W127*	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	247					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCAGAAGCTTCCAGGTGCCAC	0.597000													7	113					0	0	0.000157383	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015211	45015211	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:45015211C>T	ENST00000454753.1	-	0	1893							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGGCAGCTTCGTCTGCAAGT	0.532000													32	270					0	0	0.000491102	0	0
JAG1	182	broad.mit.edu	37	20	10626702	10626702	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:10626702C>T	ENST00000254958.5	-	15	2431	c.1916G>A	c.(1915-1917)aGa>aAa	p.R639K	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.R480K	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	639	EGF-like 11; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCCACCGTTTCTACAAGGGTT	0.463000									Alagille Syndrome				11	107					0	0	0.000978159	0	0
STARD6	147323	broad.mit.edu	37	18	51855788	51855788	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:51855788T>A	ENST00000581310.1	-	8	781	c.408A>T	c.(406-408)gaA>gaT	p.E136D	STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Missense_Mutation_p.E136D			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	136	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATGGAGGATATTCTGGAAAAT	0.313000													26	183					0	0	0.000586117	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986961	89986961	+	RNA	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:89986961C>T	ENST00000491977.1	+	0	272																											AACCGGTTCTCTGGAGTGCCA	0.517000													7	39					0	0	0.000157383	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349648	36349648	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:36349648C>T	ENST00000360202.5	+	4	602	c.404C>T	c.(403-405)tCt>tTt	p.S135F	KIRREL2_ENST00000586102.2_Missense_Mutation_p.S135F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S135F|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S85F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S135F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	135	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTCTGTGTCTCTGGTTGCT	0.602000													10	81					0	0	0.000442599	0	0
KCND2	3751	broad.mit.edu	37	7	119915622	119915622	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:119915622C>T	ENST00000331113.4	+	1	1901	c.936C>T	c.(934-936)atC>atT	p.I312I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	312					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCCTGCGCATCCTGGGGTACA	0.512000													9	51					0	0	0.000274275	0	0
MYO5B	4645	broad.mit.edu	37	18	47431107	47431107	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:47431107G>A	ENST00000285039.7	-	20	2805	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	836	Arg-rich.|IQ 3.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAGCTCTGCGGACCCTCTGG	0.642000													11	83					0	0	0.000673444	0	0
ABCB7	22	broad.mit.edu	37	X	74296471	74296471	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:74296471G>A	ENST00000253577.3	-	5	499	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	ABCB7_ENST00000373394.3_Missense_Mutation_p.P158S|ABCB7_ENST00000339447.4_Missense_Mutation_p.P118S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	158	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AACATGAAGGGAACCACAATA	0.348000													6	13					0	0	8.12818e-05	0	0
OR11H6	122748	broad.mit.edu	37	14	20692721	20692721	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:20692721C>T	ENST00000315519.2	+	1	931	c.853C>T	c.(853-855)Cca>Tca	p.P285S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	285					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)		ATCAGGGAACCCAGCAGGAAT	0.438000													7	58					0	0	8.12818e-05	0	0
FLII	2314	broad.mit.edu	37	17	18155806	18155806	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:18155806G>A	ENST00000327031.4	-	10	1303	c.1078C>T	c.(1078-1080)Cat>Tat	p.H360Y	FLII_ENST00000545457.2_Missense_Mutation_p.H306Y|FLII_ENST00000379450.4_Missense_Mutation_p.H275Y|FLII_ENST00000579294.1_Missense_Mutation_p.H349Y|FLII_ENST00000578558.1_Missense_Mutation_p.H360Y	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	360	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTCAGGAAATGGATGGCTTCT	0.597000													9	101					0	0	0.000442599	0	0
TG	7038	broad.mit.edu	37	8	134031930	134031930	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:134031930C>T	ENST00000220616.4	+	39	6906	c.6866C>T	c.(6865-6867)cCt>cTt	p.P2289L	TG_ENST00000377869.1_Missense_Mutation_p.P2232L|TG_ENST00000542445.1_Missense_Mutation_p.P659L|TG_ENST00000519543.1_Missense_Mutation_p.P422L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2289					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGTTCATCCCTCAGAATGTG	0.517000													8	87					0	0	0.000274275	0	0
BTNL9	153579	broad.mit.edu	37	5	180475174	180475174	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:180475174G>A	ENST00000327705.9	+	3	588	c.357G>A	c.(355-357)caG>caA	p.Q119Q	BTNL9_ENST00000515271.1_Silent_p.Q50Q|BTNL9_ENST00000376842.3_Silent_p.Q119Q|BTNL9_ENST00000376841.2_Silent_p.Q119Q	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	119	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCCTGCAGCTTCACAGCA	0.602000													6	39					0	0	0.00116845	0	0
ZNF586	54807	broad.mit.edu	37	19	58290215	58290215	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:58290215C>T	ENST00000391702.3	+	4	498	c.131C>T	c.(130-132)cCt>cTt	p.P44L	ZNF586_ENST00000396150.4_Missense_Mutation_p.L45F|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.P87L	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGAAAGGCCTTATGAGTGT	0.453000													13	80					0	0	0.000151284	0	0
WDR96	80217	broad.mit.edu	37	10	105893468	105893468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:105893468C>T	ENST00000357060.3	-	35	4621	c.4506G>A	c.(4504-4506)tgG>tgA	p.W1502*	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Nonsense_Mutation_p.W1474*	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1502										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTTATGTTCCCACTCAATCT	0.338000													11	50					0	0	0.000673444	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128816	248128816	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:248128816C>T	ENST00000366480.3	+	1	282	c.183C>T	c.(181-183)atC>atT	p.I61I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	61					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)			TCATGCTGATCCACCTCATTC	0.463000													8	201					0	0	0.000442599	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138174	126138174	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:126138174G>A	ENST00000299308.3	+	9	2163	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D231N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	719						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGACATTTACGATCCTAAGGA	0.403000													10	123					0	0	0.000978159	0	0
LIN28B	389421	broad.mit.edu	37	6	105405976	105405976	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:105405976G>A	ENST00000345080.4	+	2	216	c.13G>A	c.(13-15)Ggg>Agg	p.G5R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	5					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTCTCAGGCGGGGCTAGCAA	0.517000													11	93					0	0	0.000978159	0	0
MYO5A	4644	broad.mit.edu	37	15	52605957	52605957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:52605957G>A	ENST00000399231.3	-	41	5747	c.5504C>T	c.(5503-5505)tCc>tTc	p.S1835F	MYO5A_ENST00000358212.6_Missense_Mutation_p.S1860F|MYO5A_ENST00000553916.1_Missense_Mutation_p.S1833F|MYO5A_ENST00000399233.2_Missense_Mutation_p.S1832F|MYO5A_ENST00000356338.6_Missense_Mutation_p.S1808F	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1835					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TAGTGCGAGGGAAGATGGGTT	0.473000													6	97					0	0	8.12818e-05	0	0
BAZ1A	11177	broad.mit.edu	37	14	35224118	35224118	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:35224118G>A	ENST00000360310.1	-	26	4956	c.4389C>T	c.(4387-4389)gtC>gtT	p.V1463V	BAZ1A_ENST00000382422.2_Silent_p.V1463V|BAZ1A_ENST00000358716.4_Silent_p.V1431V	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1463	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGTAGTCTGGGACCTGTAAAA	0.294000													6	43					0	0	8.12818e-05	0	0
EMC8	10328	broad.mit.edu	37	16	85814035	85814035	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:85814035G>A	ENST00000253457.3	-	4	667	c.423C>T	c.(421-423)atC>atT	p.I141I	EMC8_ENST00000435200.2_Intron	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8																		CGTACACGTGGATCGTAGGCG	0.607000													7	45					0	0	0.000274275	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730519	140730519	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140730519A>C	ENST00000523390.1	+	1	692	c.692A>C	c.(691-693)gAt>gCt	p.D231A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGTTACGGATGCCAATGAT	0.562000													6	69					0	0	0.000274275	0	0
MYH13	8735	broad.mit.edu	37	17	10209805	10209805	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10209805T>A	ENST00000418404.3	-	36	5600	c.5437A>T	c.(5437-5439)Aag>Tag	p.K1813*	MYH13_ENST00000570743.1_Nonsense_Mutation_p.K1813*|MYH13_ENST00000252172.4_Nonsense_Mutation_p.K1813*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1813					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCTGCTTCTTCCCGCCCTTC	0.547000													16	231					0	0	0.000375601	0	0
RASGRF1	5923	broad.mit.edu	37	15	79317774	79317774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:79317774G>A	ENST00000419573.3	-	10	1698	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	RASGRF1_ENST00000558480.2_Missense_Mutation_p.T475I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	475	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCGCCCCCTGGTGATCTTGCC	0.567000													11	92					0	0	0.000978159	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529638	5529638	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:5529638G>A	ENST00000311659.4	-	2	1298	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	384										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGAGGGTGACGATGGGGG	0.577000													17	154					0	0	0.00074312	0	0
C4orf17	84103	broad.mit.edu	37	4	100460493	100460493	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:100460493C>T	ENST00000514652.1	+	7	1156	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	C4orf17_ENST00000326581.4_Silent_p.L268L			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	268										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATCAAAAGTGCTGACCAGAGA	0.463000													9	35					0	0	0.000673444	0	0
CCDC170	80129	broad.mit.edu	37	6	151865752	151865752	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:151865752G>A	ENST00000367290.5	+	4	578	c.489G>A	c.(487-489)aaG>aaA	p.K163K	CCDC170_ENST00000239374.7_Silent_p.K163K|CCDC170_ENST00000544131.1_3'UTR			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	163																	AAGTTTCAAAGAATTGCAGGA	0.348000													7	37					0	0	8.12818e-05	0	0
MYH13	8735	broad.mit.edu	37	17	10258014	10258014	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:10258014C>T	ENST00000418404.3	-	10	1151	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	MYH13_ENST00000570743.1_Missense_Mutation_p.E330K|MYH13_ENST00000252172.4_Missense_Mutation_p.E330K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	330	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E330K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCAGCAGTTCTTCACTGTCA	0.463000													12	114					0	0	0.000151284	0	0
AOX1	316	broad.mit.edu	37	2	201485923	201485923	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:201485923C>T	ENST00000374700.2	+	18	2196	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	652					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GACGTCAACTCCTTCTGCTTT	0.413000													13	99					0	0	0.00010058	0	0
DNAH8	1769	broad.mit.edu	37	6	38950197	38950197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:38950197C>T	ENST00000359357.3	+	84	12513	c.12259C>T	c.(12259-12261)Cag>Tag	p.Q4087*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q4051*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCCAGTGTTCAGTTTATTCA	0.363000													11	93					0	0	0.000978159	0	0
LPPR1	54886	broad.mit.edu	37	9	104048436	104048436	+	Silent	SNP	C	C	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:104048436C>A	ENST00000374874.3	+	4	742	c.303C>A	c.(301-303)tcC>tcA	p.S101S	LPPR1_ENST00000395056.2_Silent_p.S101S	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		101						integral to membrane	catalytic activity										CAAGAGAATCCCTGATTGCTC	0.383000													7	55					8.12818e-05	0.000672447	8.12818e-05	1	0
TANC2	26115	broad.mit.edu	37	17	61498732	61498732	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:61498732C>T	ENST00000424789.2	+	25	5393	c.5389C>T	c.(5389-5391)Ccg>Tcg	p.P1797S	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1807S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1797							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAACCTAACTCCGACCTTCCG	0.542000													4	28					0	0	0.000602214	0	0
IL12RB1	3594	broad.mit.edu	37	19	18192971	18192971	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:18192971G>A	ENST00000600835.1	-	4	531	c.228C>T	c.(226-228)ttC>ttT	p.F76F	IL12RB1_ENST00000322153.6_Silent_p.F76F|IL12RB1_ENST00000593993.1_Silent_p.F76F|IL12RB1_ENST00000430026.2_Silent_p.F76F			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	76	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AACACCGCAGGAAGTGGCTGA	0.602000													4	23					0	0	0.00024832	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278928	36278928	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:36278928C>T	ENST00000007510.4	+	21	3605	c.3461C>T	c.(3460-3462)gCc>gTc	p.A1154V	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A990V|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A993V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1154					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGCTACTCAGCCCCCCAGCAC	0.662000													7	37					0	0	0.000157383	0	0
SLC9C2	284525	broad.mit.edu	37	1	173569289	173569289	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:173569289G>A	ENST00000367714.3	-	3	617	c.195C>T	c.(193-195)ttC>ttT	p.F65F	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	65					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GTCCTATCACGAATCCTGATA	0.343000													8	91					0	0	0.000442599	0	0
ZNF229	7772	broad.mit.edu	37	19	44933110	44933110	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:44933110G>A	ENST00000291187.4	-	6	2150	c.1828C>T	c.(1828-1830)Ctt>Ttt	p.L610F	ZNF229_ENST00000588931.1_Missense_Mutation_p.L616F|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGATGGATAAGGAGGTCGGAG	0.537000													5	86					0	0	8.12818e-05	0	0
COG1	9382	broad.mit.edu	37	17	71189274	71189274	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:71189274C>T	ENST00000299886.4	+	1	146	c.66C>T	c.(64-66)ttC>ttT	p.F22F	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	22					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGGCTCTTTTCGAGACGCATG	0.677000													9	14					0	0	0.000442599	0	0
PROKR2	128674	broad.mit.edu	37	20	5294996	5294996	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:5294996T>C	ENST00000546004.1	-	2	266	c.20A>G	c.(19-21)aAc>aGc	p.N7S	PROKR2_ENST00000217270.3_Missense_Mutation_p.N7S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	7						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAAACTGGTGTTTCCATTCTG	0.512000										HNSCC(71;0.22)			9	92					0	0	0.000978159	0	0
VPS13B	157680	broad.mit.edu	37	8	100871677	100871677	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:100871677G>A	ENST00000358544.2	+	57	11199	c.11088G>A	c.(11086-11088)ggG>ggA	p.G3696G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.G3671G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3696					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTCCAGAGGGACCACATCGT	0.522000													7	75					0	0	0.000673444	0	0
ENTPD3	956	broad.mit.edu	37	3	40456291	40456291	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:40456291G>A	ENST00000301825.3	+	6	675	c.557G>A	c.(556-558)gGa>gAa	p.G186E	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.G186E|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.G186E|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	186						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GGGGTATATGGATGGATTACA	0.418000													18	186					0	0	0.000175454	0	0
FSTL5	56884	broad.mit.edu	37	4	162376222	162376222	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:162376222C>T	ENST00000306100.5	-	15	2211	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	FSTL5_ENST00000427802.2_Missense_Mutation_p.G582E|FSTL5_ENST00000379164.4_Missense_Mutation_p.G591E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G591E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	592						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAATTGCTTTCCCACTGGTTG	0.438000													4	32					0	0	0.000602214	0	0
OR1N2	138882	broad.mit.edu	37	9	125315671	125315671	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:125315671C>T	ENST00000373688.2	+	1	281	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCTCCATACTCCCATGTACTT	0.507000													16	137					0	0	0.000566183	0	0
CHL1	10752	broad.mit.edu	37	3	391091	391091	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:391091G>C	ENST00000256509.2	+	10	1540	c.898G>C	c.(898-900)Ggg>Cgg	p.G300R	CHL1_ENST00000397491.2_Missense_Mutation_p.G284R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	284	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTACCAAAGGGGAGAGAAAC	0.368000													6	27					0	0	0.00116845	0	0
CCDC135	84229	broad.mit.edu	37	16	57738800	57738800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:57738800G>A	ENST00000360716.3	+	7	933	c.712G>A	c.(712-714)Gag>Aag	p.E238K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E173K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E238K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	238						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CATCAAGAAGGAGGAAAAGGT	0.547000													6	41					0	0	8.12818e-05	0	0
LMO7	4008	broad.mit.edu	37	13	76393596	76393596	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:76393596G>A	ENST00000357063.3	+	14	3548	c.2288G>A	c.(2287-2289)aGa>aAa	p.R763K	LMO7_ENST00000341547.4_Missense_Mutation_p.R429K|LMO7_ENST00000321797.8_Missense_Mutation_p.R478K|LMO7_ENST00000377534.3_Missense_Mutation_p.R763K|LMO7_ENST00000465261.2_Missense_Mutation_p.R478K|LMO7_ENST00000526202.1_Missense_Mutation_p.R328K			Q8WWI1	LMO7_HUMAN	LIM domain 7	763						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGAAGAGAGAGAAGAAATT	0.423000													9	70					0	0	0.000274275	0	0
CEP97	79598	broad.mit.edu	37	3	101483907	101483907	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:101483907C>T	ENST00000341893.3	+	11	2862	c.2110C>T	c.(2110-2112)Cat>Tat	p.H704Y	CEP97_ENST00000327230.4_Missense_Mutation_p.H730Y|CEP97_ENST00000494050.1_Missense_Mutation_p.H645Y			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	704	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCTGGTTTTCATTCCTCTCT	0.398000													7	97					0	0	0.000157383	0	0
VCPKMT	79609	broad.mit.edu	37	14	50583133	50583133	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:50583133G>A	ENST00000395860.2	-	1	142	c.138C>T	c.(136-138)gcC>gcT	p.A46A	METTL21D_ENST00000395859.2_Silent_p.A46A	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN		46							methyltransferase activity			kidney(1)|lung(1)|urinary_tract(1)	3						AAAGGACAATGGCAGCGTCCC	0.617000													5	31					0	0	0.000602214	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958895	50958895	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:50958895G>A	ENST00000357701.5	+	20	2383	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	778	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTACTGCCTGGAAGGCTGTGA	0.597000													4	39					0	0	0.00024832	0	0
APBB1IP	54518	broad.mit.edu	37	10	26792132	26792132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:26792132G>A	ENST00000376236.4	+	6	915	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	154	Poly-Glu.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCAGGAAGAGGAAGAAGCCCA	0.433000													10	112					0	0	0.000442599	0	0
ATP8A2	51761	broad.mit.edu	37	13	26127989	26127989	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:26127989T>A	ENST00000381655.2	+	12	1258	c.1116T>A	c.(1114-1116)aaT>aaA	p.N372K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.N332K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	332					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TATACAACAATCTTATTCCCA	0.393000													12	103					0	0	0.000151284	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:19455440C>T	ENST00000396229.2	+	4	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_ENST00000381414.4_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000541464.1_Missense_Mutation_p.R276C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000													7	80					0	0	8.12818e-05	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988271	116988271	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:116988271T>A	ENST00000368576.3	-	2	328	c.85A>T	c.(85-87)Att>Ttt	p.I29F	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.I29F	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	29						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GGACATATAATTTCACTTTCC	0.353000													19	93					0	0	0.00074312	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127433	3127433	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:3127433A>G	ENST00000380266.3	-	2	2605	c.2284T>C	c.(2284-2286)Tct>Cct	p.S762P	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	762					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CAGAGAGCAGAGGTGAATACT	0.428000													15	111					0	0	0.000958276	0	0
PLCE1	51196	broad.mit.edu	37	10	95791744	95791744	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:95791744C>T	ENST00000260766.3	+	2	1575	c.941C>T	c.(940-942)gCt>gTt	p.A314V	PLCE1_ENST00000371380.2_Missense_Mutation_p.A314V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	314					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAGAAGACGCTTTTAAAAGC	0.378000													17	65					0	0	0.000958276	0	0
TRPC7	57113	broad.mit.edu	37	5	135692530	135692530	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:135692530G>A	ENST00000513104.1	-	2	828	c.546C>T	c.(544-546)atC>atT	p.I182I	TRPC7_ENST00000355180.3_Silent_p.I182I|TRPC7_ENST00000426057.2_Silent_p.I182I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	182					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAGCAGCAGGATGTGCACGA	0.607000													10	172					0	0	0.000219431	0	0
TIMM21	29090	broad.mit.edu	37	18	71816207	71816207	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:71816207G>C	ENST00000580087.1	+	1	450	c.164G>C	c.(163-165)aGa>aCa	p.R55T	TIMM21_ENST00000169551.6_Missense_Mutation_p.R55T			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	55					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		p.R55T(1)									CTGCGACCTAGATGTATTCTT	0.493000													15	201					0	0	0.000566183	0	0
DNAH5	1767	broad.mit.edu	37	5	13714630	13714630	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:13714630G>A	ENST00000265104.4	-	75	13113	c.13009C>T	c.(13009-13011)Cta>Tta	p.L4337L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4337					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGATGCCTAGGATGGTGTCC	0.612000									Kartagener syndrome				9	75					0	0	0.000274275	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925346	47925346	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:47925346G>A	ENST00000289672.2	-	18	3193	c.3143C>T	c.(3142-3144)tCc>tTc	p.S1048F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1048	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCATCAGGGATCCCTTGCT	0.597000													8	89					0	0	0.000157383	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564786	47564786	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:47564786C>T	ENST00000334194.3	+	8	900	c.897C>T	c.(895-897)ttC>ttT	p.F299F	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	299						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCAAAGATTTCTCTGAAGCAG	0.388000													20	81					0	0	0.000375601	0	0
DMBT1	1755	broad.mit.edu	37	10	124402872	124402872	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:124402872C>T	ENST00000338354.3	+	53	7306	c.7200C>T	c.(7198-7200)atC>atT	p.I2400I	DMBT1_ENST00000330163.4_Silent_p.I1772I|DMBT1_ENST00000359586.6_Silent_p.I1120I|DMBT1_ENST00000368955.3_Silent_p.I2390I|DMBT1_ENST00000344338.3_Silent_p.I2390I|DMBT1_ENST00000368956.2_Silent_p.I1772I|DMBT1_ENST00000368909.3_Silent_p.I2400I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2400					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGTCCCATCCAGCTGCAGA	0.647000													13	34					0	0	0.000219431	0	0
CLDN16	10686	broad.mit.edu	37	3	190120204	190120204	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:190120204G>A	ENST00000264734.2	+	2	651	c.403G>A	c.(403-405)Gat>Aat	p.D135N	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	135					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGATGAGTACGATTCCATACT	0.493000													21	117					0	0	0.000295444	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951492	30951492	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:30951492C>T	ENST00000402321.1	-	3	1037	c.720G>A	c.(718-720)ctG>ctA	p.L240L	GAL3ST1_ENST00000406361.1_Silent_p.L240L|GAL3ST1_ENST00000401975.1_Silent_p.L240L|GAL3ST1_ENST00000406955.1_Silent_p.L240L|GAL3ST1_ENST00000443111.2_Silent_p.L240L|GAL3ST1_ENST00000338911.5_Silent_p.L240L|GAL3ST1_ENST00000402369.1_Silent_p.L240L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	240					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCTCCACCTCCAGGATGTGCT	0.612000													9	91					0	0	0.000274275	0	0
TLN2	83660	broad.mit.edu	37	15	63000710	63000710	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:63000710C>T	ENST00000561311.1	+	20	2412	c.2182C>T	c.(2182-2184)Ccc>Tcc	p.P728S	TLN2_ENST00000306829.6_Missense_Mutation_p.P728S			Q9Y4G6	TLN2_HUMAN	talin 2	728					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGTTGTGAGCCCCACTATTAG	0.602000													9	80					0	0	0.000442599	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672623	113672623	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:113672623C>T	ENST00000330212.3	+	3	537	c.238C>T	c.(238-240)Cct>Tct	p.P80S	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P74S	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	80						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CCTCCGAATTCCTTGGCTTAG	0.458000													28	89					0	0	0.00106085	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835042	61835042	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:61835042G>A	ENST00000370339.3	-	4	591	c.250C>T	c.(250-252)Cca>Tca	p.P84S	YTHDF1_ENST00000370333.4_Missense_Mutation_p.P34S|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	84										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GTGAGGTATGGAATCGGAGGG	0.542000													9	80					0	0	0.000673444	0	0
C6orf48	50854	broad.mit.edu	37	6	31807420	31807420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:31807420G>T	ENST00000375640.3	+	4	935	c.208G>T	c.(208-210)Gga>Tga	p.G70*	C6orf48_ENST00000375638.3_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375635.2_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375633.1_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375642.2_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375641.2_Nonsense_Mutation_p.G70*|C6orf48_ENST00000375639.2_Nonsense_Mutation_p.G70*|C6orf48_ENST00000395788.3_Nonsense_Mutation_p.G70*|C6orf48_ENST00000395789.1_Nonsense_Mutation_p.G70*	NM_001040438.1	NP_001035528.1	Q9UBA6	G8_HUMAN	chromosome 6 open reading frame 48	70										breast(1)|large_intestine(1)|lung(1)|skin(1)	4						CCTTATTGGGGGAAAAATGCC	0.373000													67	456					1.74474e-33	1.45323e-32	0.000781405	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1779144	1779144	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:1779144C>T	ENST00000250894.4	+	3	602	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R149W	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	149					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCAGTTTCCCGGTTGGAGGA	0.592000													30	125					0	0	0.00111076	0	0
SEC61A1	29927	broad.mit.edu	37	3	127779007	127779007	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:127779007G>T	ENST00000243253.3	+	6	599	c.415G>T	c.(415-417)Gac>Tac	p.D139Y	SEC61A1_ENST00000464451.1_Missense_Mutation_p.D145Y|SEC61A1_ENST00000424880.2_Missense_Mutation_p.D19Y	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	139					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GATGTATGGGGACCCTTCTGA	0.428000													38	154					5.44703e-19	4.5318e-18	0.000437636	1	0
JAK2	3717	broad.mit.edu	37	9	5044464	5044464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:5044464C>T	ENST00000381652.3	+	5	906	c.412C>T	c.(412-414)Cga>Tga	p.R138*	JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Nonsense_Mutation_p.R138*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	138	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGAATATCTCGAGGTGCTGA	0.373000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				5	58					0	0	8.12818e-05	0	0
NYAP2	57624	broad.mit.edu	37	2	226273632	226273632	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:226273632G>A	ENST00000272907.6	+	2	449	c.36G>A	c.(34-36)gaG>gaA	p.E12E	NYAP2_ENST00000409269.2_Silent_p.E12E	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	12																	CTAATCCTGAGGAAGACCCTT	0.438000													6	63					0	0	0.00116845	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125859	12125859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:12125859G>A	ENST00000379388.2	+	4	6163	c.5831G>A	c.(5830-5832)tGg>tAg	p.W1944*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1944					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AACTTTACATGGTGTTATCTC	0.443000													13	85					0	0	0.000308642	0	0
GLRB	2743	broad.mit.edu	37	4	158057783	158057783	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:158057783C>T	ENST00000264428.4	+	5	730	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	GLRB_ENST00000541722.1_Missense_Mutation_p.H154Y|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.H154Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	154					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.H154Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGCCAATTTTCATGATGTGAC	0.353000													7	105					0	0	0.000274275	0	0
ABCG8	64241	broad.mit.edu	37	2	44099249	44099249	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:44099249G>A	ENST00000272286.2	+	7	1189	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	367					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAGACGAAGGATCTTGACGA	0.547000													52	455					0	0	0.000781405	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659250	121659250	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:121659250C>T	ENST00000489711.1	+	21	2316	c.1928C>T	c.(1927-1929)tCt>tTt	p.S643F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S612F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	643					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.S643F(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AGCATGAAATCTGTGCTCCAG	0.507000													7	100					0	0	0.000157383	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515784	47515784	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:47515784C>T	ENST00000371901.3	+	12	1718	c.1468C>T	c.(1468-1470)Cat>Tat	p.H490Y	CYP4X1_ENST00000538609.1_Missense_Mutation_p.H489Y	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	490						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTTCCCCAACCATTTTATCCT	0.438000													20	103					0	0	0.000229342	0	0
PTPRE	5791	broad.mit.edu	37	10	129881150	129881150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:129881150G>A	ENST00000254667.3	+	21	2362	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PTPRE_ENST00000419012.2_Missense_Mutation_p.D695N|PTPRE_ENST00000306042.5_Missense_Mutation_p.D637N	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	695					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TATATTTTCTGATTATGCTAA	0.249000													11	57					0	0	0.000978159	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166015	67166015	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:67166015G>A	ENST00000376745.4	-	7	1132	c.984C>T	c.(982-984)gcC>gcT	p.A328A	PPP1CA_ENST00000358239.4_Silent_p.A284A|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Silent_p.A339A	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	328					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCTATTTCTTGGCTTTGGCGG	0.612000													6	50					0	0	0.00116845	0	0
PSG5	5673	broad.mit.edu	37	19	43680107	43680107	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43680107C>T	ENST00000404580.1	-	3	712	c.624G>A	c.(622-624)acG>acA	p.T208T	PSG5_ENST00000342951.6_Silent_p.T208T|PSG5_ENST00000407356.1_Silent_p.T208T|PSG5_ENST00000599812.1_Silent_p.T301T|PSG5_ENST00000366175.3_Silent_p.T208T|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	208	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTCATTTCTCGTGACACTGG	0.498000													20	133					0	0	0.00047179	0	0
C1orf106	55765	broad.mit.edu	37	1	200880682	200880682	+	Missense_Mutation	SNP	C	C	T	rs145738054	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:200880682C>T	ENST00000367342.4	+	9	1516	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	C1orf106_ENST00000413687.2_Missense_Mutation_p.P354L	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	439										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TCCTGCTTTCCCGCGACCAAG	0.687000													25	230					0	0	0.000586117	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530191	5530191	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:5530191G>A	ENST00000311659.4	-	2	745	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	200										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGATCAGCTGCTGCATA	0.512000													14	126					0	0	0.000229342	0	0
DSC2	1824	broad.mit.edu	37	18	28651772	28651772	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr18:28651772G>A	ENST00000280904.6	-	13	2367	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	DSC2_ENST00000251081.6_Missense_Mutation_p.P642S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	642	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GAGCCAAATGGAGGATCATTC	0.348000													5	22					0	0	0.00116845	0	0
GFRA1	2674	broad.mit.edu	37	10	117825120	117825120	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:117825120G>A	ENST00000439649.3	-	9	1567	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	GFRA1_ENST00000544592.1_Silent_p.S284S|GFRA1_ENST00000369236.1_Silent_p.S400S|GFRA1_ENST00000355422.6_Silent_p.S405S	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	405					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGACACATTGGATTTCAGCT	0.433000													6	33					0	0	8.12818e-05	0	0
ABCC3	8714	broad.mit.edu	37	17	48752800	48752800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:48752800G>A	ENST00000285238.8	+	20	2757	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	893					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GACAGACAATGATCCAGTCAC	0.567000													9	68					0	0	0.000442599	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74651289	74651289	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:74651289G>T	ENST00000541184.1	-	4	896	c.419C>A	c.(418-420)gCt>gAt	p.A140D	ZDHHC15_ENST00000373367.3_Missense_Mutation_p.A149D|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.A149D	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	149						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CACTTACATAGCACAGACAGA	0.453000													7	21					1.12685e-05	9.34347e-05	0.000274275	1	0
ECM2	1842	broad.mit.edu	37	9	95272208	95272208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:95272208G>A	ENST00000344604.5	-	6	1428	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	ECM2_ENST00000444490.2_Nonsense_Mutation_p.Q405*|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	427					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCGATAGCCTGAAGATTGTTC	0.289000													6	43					0	0	0.00116845	0	0
TMEM17	200728	broad.mit.edu	37	2	62728490	62728490	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:62728490G>A	ENST00000335390.5	-	4	662	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	151						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			TGGAAAGCAAGGAAGAGAGTG	0.403000													11	89					0	0	0.000673444	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095455	103095455	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:103095455C>T	ENST00000295269.4	+	2	871	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	138					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGCCACCCATCGTTCTGGAGG	0.612000													8	66					0	0	0.000442599	0	0
NUP153	9972	broad.mit.edu	37	6	17675216	17675216	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:17675216G>A	ENST00000262077.2	-	5	771	c.772C>T	c.(772-774)Cct>Tct	p.P258S	NUP153_ENST00000537253.1_Missense_Mutation_p.P258S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	258					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGATAAAAAGGAGAATCTCCA	0.418000													14	81					0	0	0.000422831	0	0
HTR3E	285242	broad.mit.edu	37	3	183818415	183818415	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:183818415C>T	ENST00000415389.2	+	2	676	c.210C>T	c.(208-210)ttC>ttT	p.F70F	HTR3E_ENST00000436361.2_Silent_p.F85F|HTR3E_ENST00000425359.2_Silent_p.F70F|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Silent_p.F85F|HTR3E_ENST00000335304.2_Silent_p.F85F	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	70						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACATCTCCTTCGCGATGTCTG	0.557000													29	105					0	0	0.00127121	0	0
C4BPB	725	broad.mit.edu	37	1	207273143	207273143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:207273143C>T	ENST00000243611.5	+	6	922	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	C4BPB_ENST00000367078.3_Nonsense_Mutation_p.Q210*|C4BPB_ENST00000367076.3_Nonsense_Mutation_p.Q209*|C4BPB_ENST00000391923.1_Nonsense_Mutation_p.Q210*|C4BPB_ENST00000470767.1_3'UTR	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	210					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GCTTGCCTTTCAGGAGAGTAA	0.418000													10	80					0	0	0.000673444	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573038	140573038	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:140573038G>A	ENST00000239446.4	+	1	1097	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		305	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTCTCAGAGAATTGCTTGA	0.363000													7	55					0	0	8.12818e-05	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042883	75042883	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:75042883C>T	ENST00000343932.4	+	2	867	c.804C>T	c.(802-804)gtC>gtT	p.V268V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	268					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGAAAACAGTCCAGGAGCACT	0.612000													7	66					0	0	8.12818e-05	0	0
RXFP1	59350	broad.mit.edu	37	4	159568246	159568246	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:159568246A>G	ENST00000307765.5	+	16	1900	c.1649A>G	c.(1648-1650)aAg>aGg	p.K550R	RXFP1_ENST00000460056.2_Missense_Mutation_p.K469R|RXFP1_ENST00000343542.5_Missense_Mutation_p.K502R|RXFP1_ENST00000470033.1_Missense_Mutation_p.K517R|RXFP1_ENST00000448688.2_Missense_Mutation_p.K445R	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	550						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTGAGCAATAAGGAATTTTTC	0.368000													8	52					0	0	0.000274275	0	0
KIAA1841	84542	broad.mit.edu	37	2	61297492	61297492	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:61297492C>T	ENST00000402291.1	+	3	248	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	KIAA1841_ENST00000356719.2_Missense_Mutation_p.R3C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R3C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.R3C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	3										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAAGATGAGTCGTGGATATTC	0.338000													6	69					0	0	0.000157383	0	0
CCR2	729230	broad.mit.edu	37	3	46399868	46399868	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:46399868G>A	ENST00000292301.4	+	2	1335	c.850G>A	c.(850-852)Gac>Aac	p.D284N	CCR2_ENST00000400888.2_Missense_Mutation_p.D284N|CCR2_ENST00000445132.2_Missense_Mutation_p.D284N|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	284					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CAGTCAACTGGACCAAGCCAC	0.473000													34	147					0	0	0.000491102	0	0
XPO5	57510	broad.mit.edu	37	6	43523660	43523660	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:43523660G>A	ENST00000265351.7	-	13	1564	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	452					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGATCCAAACGACATGCCAAC	0.433000													14	103					0	0	0.000308642	0	0
RPRD2	23248	broad.mit.edu	37	1	150429989	150429989	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:150429989C>T	ENST00000401000.4	+	7	1083	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	RPRD2_ENST00000369068.4_Missense_Mutation_p.R366C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.R340C			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	366							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GACAGATAATCGTGATGTGGA	0.428000													29	299					0	0	0.000227799	0	0
NRXN1	9378	broad.mit.edu	37	2	50850704	50850704	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:50850704G>A	ENST00000404971.1	-	7	2320	c.981C>T	c.(979-981)taC>taT	p.Y327Y	NRXN1_ENST00000402717.3_Silent_p.Y294Y|NRXN1_ENST00000401669.2_Silent_p.Y294Y|NRXN1_ENST00000406859.3_Silent_p.Y294Y|NRXN1_ENST00000405472.3_Silent_p.Y294Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.Y294Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	294	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGACAAGTCGTAGCAGAAGT	0.378000													5	34					0	0	0.000602214	0	0
GLYAT	10249	broad.mit.edu	37	11	58491913	58491913	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:58491913C>T	ENST00000344743.3	-	2	198	c.57G>A	c.(55-57)agG>agA	p.R19R	GLYAT_ENST00000529732.1_Silent_p.R19R|GLYAT_ENST00000278400.3_Silent_p.R19R	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	19					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGAGGCTCTTCCTCAAGGATT	0.438000													15	65					0	0	0.00074312	0	0
SCN11A	11280	broad.mit.edu	37	3	38889190	38889190	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38889190G>A	ENST00000450244.1	-	26	4569	c.4371C>T	c.(4369-4371)ttC>ttT	p.F1457F	SCN11A_ENST00000302328.3_Silent_p.F1457F|SCN11A_ENST00000456224.3_Silent_p.F1419F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1457					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCGTCGGAGGGAAAGGAATGT	0.493000													5	47					0	0	0.000157383	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815703	179815703	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:179815703C>T	ENST00000367612.3	-	6	1303	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	306						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TTCAGGGTCTCTCTTCCCTCC	0.552000													15	172					0	0	0.000958276	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:146997332G>A	ENST00000361727.3	+	9	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	483	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423000										HNSCC(39;0.1)			8	64					0	0	0.000442599	0	0
MAN1A1	4121	broad.mit.edu	37	6	119525929	119525929	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:119525929C>T	ENST00000368468.3	-	7	1552	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	371					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CTCACCTTTTCAGCAAAGATG	0.443000													14	127					0	0	0.000566183	0	0
XIST	7503	broad.mit.edu	37	X	73067708	73067708	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:73067708G>A	ENST00000429829.1	-	0	4880					NR_001564.2																						TAGTCCCAGGGAAAGGTAACA	0.383000													27	65					0	0	0.000227799	0	0
WNT8B	7479	broad.mit.edu	37	10	102242541	102242541	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:102242541G>A	ENST00000343737.5	+	6	1152	c.1024G>A	c.(1024-1026)Ggc>Agc	p.G342S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	342					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GCCGCGGGGGGGCGCTGCGCA	0.622000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	10					0	0	0.000602214	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718106	50718106	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:50718106G>A	ENST00000449103.1	-	27	4482	c.4342C>T	c.(4342-4344)Ctc>Ttc	p.L1448F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1448F			O15031	PLXB2_HUMAN	plexin B2	1448					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTCGTTGAGAGTGTACTTG	0.622000													16	124					0	0	0.00074312	0	0
PCLO	27445	broad.mit.edu	37	7	82474693	82474693	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:82474693C>T	ENST00000423517.2	-	13	14277	c.13940G>A	c.(13939-13941)gGa>gAa	p.G4647E	PCLO_ENST00000333891.8_Missense_Mutation_p.G4647E|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4535	C2 1.				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						AACATGAGATCCTTTTTCAAC	0.532000													6	22					0	0	0.00116845	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647912	56647912	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:56647912G>A	ENST00000267116.7	-	8	966	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	282							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCCATTGGTGGAGACTGCAGC	0.562000													8	87					0	0	0.000274275	0	0
GABPB2	126626	broad.mit.edu	37	1	151079544	151079544	+	Silent	SNP	C	C	T	rs139254162	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:151079544C>T	ENST00000368918.3	+	7	1099	c.768C>T	c.(766-768)tcC>tcT	p.S256S	GABPB2_ENST00000368916.1_Silent_p.S218S|GABPB2_ENST00000368917.1_Silent_p.S218S|GABPB2_ENST00000467551.1_3'UTR	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	256					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AAGGAAATTCCGTTGACTCAT	0.393000													7	75					0	0	0.000673444	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716994	222716994	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:222716994G>A	ENST00000343410.6	-	2	917	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	287					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R287C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TAGAACTTGCGATTGTGGCGG	0.473000													101	683					0	0	0.000781405	0	0
AEBP2	121536	broad.mit.edu	37	12	19665357	19665357	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:19665357C>T	ENST00000266508.9	+	6	1326	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	AEBP2_ENST00000398864.3_Missense_Mutation_p.S442F|AEBP2_ENST00000541908.1_Missense_Mutation_p.S213F|AEBP2_ENST00000360995.4_Missense_Mutation_p.S226F	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	442	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AAAGAAGATTCTGGGAAGATC	0.264000													3	9					0	0	6.4e-05	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:19748188G>A	ENST00000400113.3	-	5	1272	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	390					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCCAGGCGAGCCCAGGCC	0.647000													14	83					0	0	0.000308642	0	0
ULK1	8408	broad.mit.edu	37	12	132399957	132399957	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:132399957C>T	ENST00000321867.4	+	18	1951	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	534					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGGCAGGTCCCCTCGTCCAGG	0.637000													8	43					0	0	0.000274275	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708428	37708428	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:37708428G>A	ENST00000539465.1	+	4	885	c.292G>A	c.(292-294)Gat>Aat	p.D98N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D98N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	98	PDZ.					cytoskeleton|cytosol|plasma membrane		p.D98N(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTTCCCTGGTGATCAGATCCT	0.483000													9	122					0	0	0.000978159	0	0
OSER1	51526	broad.mit.edu	37	20	42825852	42825852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:42825852G>A	ENST00000372970.2	-	6	899	c.719C>T	c.(718-720)tCg>tTg	p.S240L	OSER1_ENST00000255174.2_Missense_Mutation_p.S240L					oxidative stress responsive serine-rich 1																		GGCGTGCAGCGACTGAGAGTA	0.527000													6	74					0	0	0.00116845	0	0
PLG	5340	broad.mit.edu	37	6	161139449	161139449	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:161139449C>T	ENST00000308192.9	+	8	974	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	304	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCACAGACCCCTCACACACAT	0.527000													9	91					0	0	0.000274275	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145780997	145780997	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:145780997C>T	ENST00000276826.5	-	3	744	c.543G>A	c.(541-543)aaG>aaA	p.K181K	ARHGAP39_ENST00000377307.2_Silent_p.K181K|ARHGAP39_ENST00000540274.1_Silent_p.K181K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	181					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCTCATAGTCCTTCTCAAGGA	0.478000													13	147					0	0	0.000566183	0	0
CRB1	23418	broad.mit.edu	37	1	197404357	197404357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:197404357G>A	ENST00000367397.1	+	5	2365	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	CRB1_ENST00000535699.1_Missense_Mutation_p.E1098K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1122K|CRB1_ENST00000367399.2_Missense_Mutation_p.E1010K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.E603K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1122	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1121_E1122>H*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAACCTCAGGAAGAGCAATT	0.398000													4	49					0	0	0.00116845	0	0
TEX15	56154	broad.mit.edu	37	8	30702531	30702531	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:30702531G>A	ENST00000256246.2	-	1	4077	c.4003C>T	c.(4003-4005)Cct>Tct	p.P1335S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1335										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GATAACTGAGGAATACTGTAC	0.383000													16	102					0	0	0.00074312	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74188198	74188198	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:74188198G>A	ENST00000286523.5	-	11	3521	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	ELMSAN1_ENST00000394071.2_Silent_p.F913F	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GCACCCTTGGGAACTTTTGGG	0.592000													5	102					0	0	8.12818e-05	0	0
ULK1	8408	broad.mit.edu	37	12	132399958	132399958	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:132399958C>T	ENST00000321867.4	+	18	1952	c.1601C>T	c.(1600-1602)cCt>cTt	p.P534L		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	534					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGCAGGTCCCCTCGTCCAGGT	0.637000													8	42					0	0	0.000274275	0	0
OR2S2	56656	broad.mit.edu	37	9	35957487	35957487	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:35957487C>T	ENST00000341959.2	-	1	664	c.609G>A	c.(607-609)acG>acA	p.T203T		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T193T(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGATCACATTCGTCACCTCCA	0.483000													15	99					0	0	0.000422831	0	0
KIF23	9493	broad.mit.edu	37	15	69737184	69737184	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:69737184C>T	ENST00000260363.4	+	19	2552	c.2435C>T	c.(2434-2436)tCa>tTa	p.S812L	KIF23_ENST00000395392.2_Missense_Mutation_p.S805L|KIF23_ENST00000558585.1_Missense_Mutation_p.S525L|KIF23_ENST00000537891.1_Missense_Mutation_p.S525L|KIF23_ENST00000352331.4_Missense_Mutation_p.S708L|KIF23_ENST00000559279.1_Missense_Mutation_p.S708L	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	812					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CACAGACGATCACGCTCTGCA	0.453000													6	60					0	0	0.00116845	0	0
NAGPA	51172	broad.mit.edu	37	16	5075614	5075614	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:5075614C>G	ENST00000312251.3	-	10	1432	c.1413G>C	c.(1411-1413)ttG>ttC	p.L471F	NAGPA_ENST00000381955.3_Missense_Mutation_p.L437F|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	471					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TGGACAGGAGCAAGGACAGGT	0.637000													6	41					0	0	0.00116845	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930263	31930263	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:31930263G>T	ENST00000375394.2	+	11	1225	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R178L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	371	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAGAAGTTCCGGGACTTCCGA	0.592000													12	642					0.000219431	0.00181333	0.000219431	1	0
DNAH2	146754	broad.mit.edu	37	17	7684361	7684361	+	Splice_Site	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:7684361T>C	ENST00000572933.1	+	39	7465	c.6003_splice	c.e39-1	p.V2002_splice	DNAH2_ENST00000389173.2_Splice_Site_p.V2002_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2002					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCATTCAGGTTCTGCTGCTC	0.512000													15	167					0	0	0.000422831	0	0
TRIM65	201292	broad.mit.edu	37	17	73887947	73887947	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:73887947G>A	ENST00000269383.3	-	5	997	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	311						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTGCCAGGGGACCTGGGGC	0.627000													5	17					0	0	8.12818e-05	0	0
GADL1	339896	broad.mit.edu	37	3	30891538	30891538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:30891538C>T	ENST00000454381.3	-	6	647	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GADL1_ENST00000282538.5_Missense_Mutation_p.E201K			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	201					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCCCCTTTTCCTTAATATCA	0.323000													5	46					0	0	0.00116845	0	0
CLCN1	1180	broad.mit.edu	37	7	143048844	143048844	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:143048844G>A	ENST00000343257.2	+	23	2840	c.2753G>A	c.(2752-2754)gGa>gAa	p.G918E		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	918					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)					GGGGCCACTGGAACAGGGGAT	0.622000													8	50					0	0	0.000157383	0	0
ANKEF1	63926	broad.mit.edu	37	20	10033912	10033912	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:10033912A>T	ENST00000378380.3	+	8	2352	c.2023A>T	c.(2023-2025)Aag>Tag	p.K675*	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.K675*|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CCCTGAAATTAAGAAAGAAGA	0.363000													9	66					0	0	0.000442599	0	0
ULK1	8408	broad.mit.edu	37	12	132403804	132403804	+	Silent	SNP	C	C	T	rs139624236		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:132403804C>T	ENST00000321867.4	+	24	2910	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	ULK1_ENST00000540647.1_Silent_p.F98F	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	853					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CGCTGCTGTTCGTGCAGCACG	0.682000													5	39					0	0	0.000157383	0	0
SCN11A	11280	broad.mit.edu	37	3	38950508	38950508	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:38950508G>A	ENST00000450244.1	-	9	1477	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	SCN11A_ENST00000302328.3_Silent_p.L427L|SCN11A_ENST00000456224.3_Silent_p.L427L|SCN11A_ENST00000444237.2_Silent_p.L427L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	427					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCTTTAACAGCTGCTGGGCT	0.522000													9	118					0	0	0.000978159	0	0
GLDN	342035	broad.mit.edu	37	15	51634223	51634223	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr15:51634223G>A	ENST00000335449.6	+	1	398	c.342G>A	c.(340-342)atG>atA	p.M114I		NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	114					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TGCTGATGATGATGACCTACT	0.706000													8	90					0	0	0.000442599	0	0
THRSP	7069	broad.mit.edu	37	11	77775213	77775213	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:77775213G>A	ENST00000281030.2	+	1	307	c.286G>A	c.(286-288)Gag>Aag	p.E96K	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	96					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CGCAGAGACAGAGGAAGTCGA	0.612000													10	54					0	0	0.000442599	0	0
FSD1	79187	broad.mit.edu	37	19	4318403	4318403	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:4318403C>T	ENST00000221856.6	+	9	1007	c.860C>T	c.(859-861)tCc>tTc	p.S287F	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.S287F	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	287	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGATCTCTCCGTGGAGTGG	0.627000													9	49					0	0	0.000442599	0	0
ASTN1	460	broad.mit.edu	37	1	176983952	176983952	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:176983952G>A	ENST00000367654.2	-	8	1535	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R500W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R500W|ASTN1_ENST00000424564.2_Missense_Mutation_p.R500W			O14525	ASTN1_HUMAN	astrotactin 1	508					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATTCGTTCCGAATGCAAAGG	0.493000													102	254					0	0	0.000781405	0	0
FCER1A	2205	broad.mit.edu	37	1	159277548	159277548	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:159277548G>A	ENST00000368115.1	+	6	699	c.600G>A	c.(598-600)gaG>gaA	p.E200E	FCER1A_ENST00000368114.1_Silent_p.E167E	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	200						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTCCGCGTGAGAAGTACTGGC	0.413000													8	78					0	0	0.000673444	0	0
SUPT6H	6830	broad.mit.edu	37	17	27024697	27024697	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:27024697C>T	ENST00000314616.6	+	31	4552	c.4269C>T	c.(4267-4269)gcC>gcT	p.A1423A	SUPT6H_ENST00000347486.4_Silent_p.A1423A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1423	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCCTTTGCCCGGGACCTTC	0.517000													11	65					0	0	0.000978159	0	0
DNAH3	55567	broad.mit.edu	37	16	21136652	21136652	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:21136652C>T	ENST00000261383.3	-	9	1247	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Silent_p.K416K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	416	Stem (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)		TCCAGTGCTCCTTCCGTGAGG	0.498000													8	89					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179584374	179584374	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:179584374G>A	ENST00000589042.1	-	82	24069	c.23845C>T	c.(23845-23847)Ccc>Tcc	p.P7949S	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6705S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7632S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7632	Ig-like 62.						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)			TCGGCACAGGGGATTTTAAGG	0.408000													14	110					0	0	0.000219431	0	0
ITK	3702	broad.mit.edu	37	5	156679629	156679629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:156679629C>T	ENST00000422843.3	+	17	1956	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	602	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCAGAAGATCGGCCAGCCTT	0.463000			T	SYK	peripheral T-cell lymphoma								35	353					0	0	0.00111076	0	0
ACMSD	130013	broad.mit.edu	37	2	135616903	135616903	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:135616903C>T	ENST00000356140.5	+	3	311	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	ACMSD_ENST00000392928.1_Silent_p.F17F|ACMSD_ENST00000283054.4_Silent_p.F17F|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	59					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TCCAGAAGTTCGTATTAGAGA	0.418000													8	72					0	0	0.000274275	0	0
IFT88	8100	broad.mit.edu	37	13	21166490	21166490	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:21166490C>T	ENST00000382778.4	+	8	1490	c.372C>T	c.(370-372)ccC>ccT	p.P124P	IFT88_ENST00000537103.1_Silent_p.P96P|IFT88_ENST00000351808.5_Silent_p.P115P|IFT88_ENST00000319980.6_Silent_p.P124P			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	124					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CATTTGACCCCCTTAGTCAGT	0.378000													10	72					0	0	0.000151284	0	0
POLR1A	25885	broad.mit.edu	37	2	86255069	86255069	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:86255069G>A	ENST00000263857.6	-	33	5379	c.5001C>T	c.(4999-5001)tcC>tcT	p.S1667S	POLR1A_ENST00000409681.1_Silent_p.S1606S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1667					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCTGTAGCGGGGAAGAGTTTG	0.552000													14	97					0	0	0.000422831	0	0
ABCC12	94160	broad.mit.edu	37	16	48174784	48174784	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:48174784C>T	ENST00000311303.3	-	4	816	c.471G>A	c.(469-471)ggG>ggA	p.G157G	ABCC12_ENST00000448542.1_Silent_p.G157G|ABCC12_ENST00000416054.1_Silent_p.G157G	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	157	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCCAGACTTTCCCAGAGGTCC	0.547000													11	72					0	0	0.000978159	0	0
PLXND1	23129	broad.mit.edu	37	3	129304874	129304874	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:129304874G>A	ENST00000393239.1	-	5	1950	c.1772C>T	c.(1771-1773)aCc>aTc	p.T591I	PLXND1_ENST00000324093.4_Missense_Mutation_p.T591I			Q9Y4D7	PLXD1_HUMAN	plexin D1	591					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGGCACTGGTCCAGAAATG	0.657000													32	116					0	0	0.000692331	0	0
SLC26A9	115019	broad.mit.edu	37	1	205893549	205893549	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:205893549G>A	ENST00000367135.3	-	13	1571	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	SLC26A9_ENST00000367134.2_Silent_p.V486V|SLC26A9_ENST00000340781.4_Silent_p.V486V	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	486						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CGGAGAAGGCGACACCCACTG	0.577000													13	80					0	0	0.000308642	0	0
C6orf89	221477	broad.mit.edu	37	6	36887380	36887380	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:36887380C>T	ENST00000480824.2	+	8	1146	c.852C>T	c.(850-852)atC>atT	p.I284I	C6orf89_ENST00000373685.1_Silent_p.I284I|C6orf89_ENST00000510325.2_Silent_p.I178I|C6orf89_ENST00000359359.2_Silent_p.I178I|C6orf89_ENST00000355190.3_Silent_p.I291I			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	284						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTATTTATCATTGGCAGCG	0.483000													12	137					0	0	0.000219431	0	0
KIF5A	3798	broad.mit.edu	37	12	57975679	57975679	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:57975679G>A	ENST00000455537.2	+	26	3210	c.2936G>A	c.(2935-2937)gGa>gAa	p.G979E	KIF5A_ENST00000286452.5_Missense_Mutation_p.G890E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	979	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCAGCAGTGGAGCCACATCT	0.552000													11	81					0	0	0.00010058	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Missense_Mutation	SNP	C	C	T	rs144099662	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:168726189C>T	ENST00000305861.1	+	2	991	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R214W	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	214					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R214R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438000													5	47					0	0	0.000602214	0	0
MTUS2	23281	broad.mit.edu	37	13	29600115	29600115	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:29600115C>T	ENST00000431530.3	+	1	1368	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	427						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAAGGACATCCAGCAGCTTT	0.507000													9	49					0	0	0.000673444	0	0
PHYH	5264	broad.mit.edu	37	10	13337514	13337514	+	Missense_Mutation	SNP	G	G	A	rs141855372	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:13337514G>A	ENST00000396920.3	-	3	574	c.170C>T	c.(169-171)gCc>gTc	p.A57V	PHYH_ENST00000263038.4_Missense_Mutation_p.A76V|PHYH_ENST00000396913.2_5'UTR			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	76					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTGAATATCGGCATCAGGTAC	0.353000													5	79					0	0	0.000602214	0	0
CDH16	1014	broad.mit.edu	37	16	66943997	66943997	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:66943997C>T	ENST00000299752.4	-	16	2361		c.e16-1		CDH16_ENST00000570262.1_Splice_Site|CDH16_ENST00000565796.1_Splice_Site|CDH16_ENST00000568632.1_Splice_Site|CDH16_ENST00000394055.3_Splice_Site	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCATGGGAACCTTTTGGGACA	0.617000													5	50					0	0	0.000602214	0	0
SORL1	6653	broad.mit.edu	37	11	121414377	121414377	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:121414377G>A	ENST00000260197.7	+	13	1935	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	602					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTTTGGCTCGAACAAAGAGA	0.507000													14	109					0	0	0.00074312	0	0
TPO	7173	broad.mit.edu	37	2	1440035	1440035	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:1440035G>A	ENST00000345913.4	+	5	452	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	TPO_ENST00000382201.3_Missense_Mutation_p.E121K|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Missense_Mutation_p.E121K|TPO_ENST00000337415.3_Missense_Mutation_p.E121K|TPO_ENST00000329066.4_Missense_Mutation_p.E121K|TPO_ENST00000349624.3_Missense_Mutation_p.E121K|TPO_ENST00000382269.3_Missense_Mutation_p.E121K|TPO_ENST00000382198.1_Missense_Mutation_p.E121K|TPO_ENST00000346956.3_Missense_Mutation_p.E121K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	121					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCTTTATCAGAAGATCTGCT	0.428000													10	74					0	0	0.00010058	0	0
ERC1	23085	broad.mit.edu	37	12	1299088	1299088	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:1299088G>A	ENST00000397203.2	+	12	2627	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	ERC1_ENST00000355446.5_Missense_Mutation_p.E741K|ERC1_ENST00000543086.3_Missense_Mutation_p.E713K|ERC1_ENST00000360905.4_Missense_Mutation_p.E741K|ERC1_ENST00000546231.2_Missense_Mutation_p.E741K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.E741K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	741					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAGCACTTGGAGAGAGAGAT	0.448000													12	60					0	0	0.000219431	0	0
PRR14L	253143	broad.mit.edu	37	22	32072956	32072956	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:32072956G>A	ENST00000397493.2	-	9	6420	c.6228C>T	c.(6226-6228)ttC>ttT	p.F2076F				Q5THK1	PR14L_HUMAN	proline rich 14-like	2076										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CGAATACCAGGAAGTGCCCGG	0.592000													5	38					0	0	0.00116845	0	0
CD84	8832	broad.mit.edu	37	1	160520779	160520779	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:160520779C>T	ENST00000368054.3	-	5	842	c.807G>A	c.(805-807)agG>agA	p.R269R	CD84_ENST00000534968.1_Silent_p.R155R|CD84_ENST00000311224.4_Silent_p.R286R|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Intron|CD84_ENST00000368048.3_Silent_p.R280R	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	286					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCTGGGTGTTCCTTGAAGCCA	0.443000													29	435					0	0	0.000491102	0	0
KIF18B	146909	broad.mit.edu	37	17	43009476	43009476	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:43009476G>A	ENST00000587309.1	-	10	1396	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	KIF18B_ENST00000438933.2_Missense_Mutation_p.S458F|KIF18B_ENST00000339151.4_Missense_Mutation_p.S458F|KIF18B_ENST00000590129.1_Missense_Mutation_p.S467F|KIF18B_ENST00000593135.1_Missense_Mutation_p.S446F	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGGTCTGAAGAGTTCCCTTC	0.637000													6	32					0	0	8.12818e-05	0	0
ZNF701	55762	broad.mit.edu	37	19	53085900	53085900	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:53085900C>T	ENST00000540331.1	+	5	1011	c.786C>T	c.(784-786)ttC>ttT	p.F262F	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Silent_p.F262F|ZNF701_ENST00000391785.3_Silent_p.F196F	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGAATAATTTCCTCCAGTCTT	0.388000													9	50					0	0	0.000274275	0	0
SVEP1	79987	broad.mit.edu	37	9	113170069	113170069	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:113170069G>A	ENST00000401783.2	-	38	8147	c.7811C>T	c.(7810-7812)tCc>tTc	p.S2604F	SVEP1_ENST00000297826.5_Missense_Mutation_p.S530F|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2581F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2604	Sushi 20.				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						TGTTGGGATGGAACTTGACCA	0.458000													26	164					0	0	0.000720815	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000433626.2_Missense_Mutation_p.E170K|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000													28	268					0	0	0.000339439	0	0
CCDC158	339965	broad.mit.edu	37	4	77317555	77317555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:77317555G>A	ENST00000388914.3	-	3	307	c.155C>T	c.(154-156)cCt>cTt	p.P52L	CCDC158_ENST00000434846.2_Missense_Mutation_p.P52L|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	52										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGGGAAAAAAGGAACCTGTGT	0.343000													7	71					0	0	0.000157383	0	0
POTEF	728378	broad.mit.edu	37	2	130877882	130877882	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:130877882G>A	ENST00000357462.5	-	1	300	c.207C>T	c.(205-207)ttC>ttT	p.F69F	POTEF_ENST00000361163.4_Silent_p.F69F|POTEF_ENST00000360967.5_Silent_p.F69F|POTEF_ENST00000409914.2_Silent_p.F69F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	69						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCAGCAGGGGAAGCAGTGGC	0.592000													25	222					0	0	0.000227799	0	0
MDC1	9656	broad.mit.edu	37	6	30670353	30670353	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:30670353G>A	ENST00000376406.3	-	14	6726	c.6079C>T	c.(6079-6081)Ccc>Tcc	p.P2027S	MDC1_ENST00000376405.2_Missense_Mutation_p.P1763S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2027	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGCATGCTGGGTAGGTATGTG	0.517000								Other conserved DNA damage response genes					12	89					0	0	0.000219431	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714532	138714532	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:138714532G>A	ENST00000389532.4	-	11	2039	c.1975C>T	c.(1975-1977)Ccc>Tcc	p.P659S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P381S|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P670S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	659						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATGCCCATGGGGAATTCTGAG	0.592000													5	44					0	0	0.000602214	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131706	82131706	+	Missense_Mutation	SNP	G	G	A	rs147477064		TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:82131706G>A	ENST00000199936.4	+	5	1022	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	277					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGACAAGTGGGAAAAGCTGGA	0.537000													12	55					0	0	0.00010058	0	0
OTOA	146183	broad.mit.edu	37	16	21737937	21737937	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:21737937C>T	ENST00000388958.3	+	18	1975	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S	OTOA_ENST00000286149.4_Silent_p.S672S|OTOA_ENST00000388957.3_Silent_p.S334S|OTOA_ENST00000388956.4_Silent_p.S579S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	672					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTTTAGATTCCCACAAAAAGA	0.557000													7	121					0	0	8.12818e-05	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:21552450C>T	ENST00000281523.2	-	4	860	c.342G>A	c.(340-342)atG>atA	p.M114I	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	114						nucleus	nucleic acid binding|zinc ion binding	p.M114I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTATTTTTCATGGCTTCCA	0.463000													20	69					0	0	0.000175454	0	0
NALCN	259232	broad.mit.edu	37	13	101714437	101714437	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:101714437C>T	ENST00000251127.6	-	41	4719	c.4638G>A	c.(4636-4638)aaG>aaA	p.K1546K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1546						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGCAAGCTCTTCCGGATGT	0.557000													5	34					0	0	0.00116845	0	0
FREM2	341640	broad.mit.edu	37	13	39266139	39266139	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:39266139C>T	ENST00000280481.7	+	1	4874	c.4658C>T	c.(4657-4659)cCt>cTt	p.P1553L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1553					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGATTACTCCTTTTGAGCTC	0.453000													12	92					0	0	0.00010058	0	0
BTBD7	55727	broad.mit.edu	37	14	93728006	93728006	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:93728006G>A	ENST00000334746.5	-	5	1696	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	BTBD7_ENST00000554565.1_Silent_p.I112I|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	463										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GATATTTAAGGATATCTTGTT	0.313000													19	118					0	0	0.000958276	0	0
FCGBP	8857	broad.mit.edu	37	19	40362898	40362898	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:40362898C>T	ENST00000221347.6	-	32	15179	c.15172G>A	c.(15172-15174)Ggc>Agc	p.G5058S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5058	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGAAGGGGCCCTGGGGGTTC	0.652000													6	138					0	0	0.000157383	0	0
SYNE2	23224	broad.mit.edu	37	14	64457194	64457194	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:64457194G>A	ENST00000358025.3	+	20	2609	c.2379G>A	c.(2377-2379)atG>atA	p.M793I	SYNE2_ENST00000554584.1_Missense_Mutation_p.M793I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.M793I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	793					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTACAAATGGATATACAAA	0.368000													12	105					0	0	0.000151284	0	0
AGRN	375790	broad.mit.edu	37	1	985856	985856	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:985856C>T	ENST00000379370.2	+	29	5076	c.5026C>T	c.(5026-5028)Ctc>Ttc	p.L1676F		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1676	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCCCAGCGGCCTCCTGCTCTA	0.672000													8	29					0	0	0.000442599	0	0
ANO3	63982	broad.mit.edu	37	11	26569046	26569046	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:26569046G>A	ENST00000256737.3	+	12	2090	c.1238G>A	c.(1237-1239)gGt>gAt	p.G413D	ANO3_ENST00000531568.1_Missense_Mutation_p.G267D|ANO3_ENST00000525139.1_Missense_Mutation_p.G397D|ANO3_ENST00000537978.1_Missense_Mutation_p.G397D|ANO3_ENST00000529242.1_3'UTR	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	413						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCAATTGTTGGTTTGTGCGTT	0.363000													8	65					0	0	0.000157383	0	0
KDM5D	8284	broad.mit.edu	37	Y	21878556	21878556	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrY:21878556G>A	ENST00000541639.1	-	15	2142	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	KDM5D_ENST00000317961.4_Missense_Mutation_p.P588S|KDM5D_ENST00000382806.2_Missense_Mutation_p.P531S	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	588	JmjC.				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TAAGCACGAGGAAAAGTGATG	0.478000													7	18					0	0	8.12818e-05	0	0
NLRC5	84166	broad.mit.edu	37	16	57113007	57113007	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:57113007C>T	ENST00000262510.6	+	44	5352	c.5127C>T	c.(5125-5127)gcC>gcT	p.A1709A	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.A1680A|NLRC5_ENST00000539144.1_Silent_p.A1680A	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1709					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCTGGCCCAGGCCCTGG	0.657000													10	114					0	0	0.000151284	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2399192	2399192	+	Splice_Site	SNP	G	G	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:2399192G>C	ENST00000332578.3	+	3	412		c.e3+1			NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9						proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTCACAGGTGAGTGGGCA	0.582000													3	37					0	0	6.4e-05	0	0
NRG3	10718	broad.mit.edu	37	10	84718705	84718705	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:84718705G>A	ENST00000372142.2	+	7	769	c.494_splice	c.e7-1	p.K165_splice	NRG3_ENST00000372141.2_Splice_Site_p.K386_splice|NRG3_ENST00000545131.1_Splice_Site_p.K36_splice|NRG3_ENST00000537893.1_Splice_Site_p.K36_splice|NRG3_ENST00000556918.1_Splice_Site_p.K216_splice|NRG3_ENST00000404547.1_Splice_Site_p.K386_splice|NRG3_ENST00000404576.2_Splice_Site_p.K190_splice	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	386	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ATGCCTGCAGGAAACAAGCTA	0.388000													13	36					0	0	0.000151284	0	0
OR2G2	81470	broad.mit.edu	37	1	247752313	247752313	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:247752313C>T	ENST00000320065.1	+	1	652	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCATTCATCCTGGTCTCCTC	0.517000													7	102					0	0	8.12818e-05	0	0
SPC25	57405	broad.mit.edu	37	2	169727971	169727971	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:169727971C>T	ENST00000282074.2	-	7	786	c.645G>A	c.(643-645)cgG>cgA	p.R215R		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	215	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TAAAAGCTTTCCGAACATTGG	0.333000													5	81					0	0	0.000602214	0	0
AMOT	154796	broad.mit.edu	37	X	112048229	112048229	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:112048229G>A	ENST00000371959.3	-	5	1721	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	AMOT_ENST00000371958.1_Silent_p.I342I|AMOT_ENST00000371962.1_Silent_p.I342I|AMOT_ENST00000304758.1_Silent_p.I165I|AMOT_ENST00000524145.1_Silent_p.I574I	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	574					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCTGATCTCGGATTTCGATGT	0.547000													42	116					0	0	0.000781405	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23886508	23886508	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:23886508G>A	ENST00000264867.2	-	2	220	c.101C>T	c.(100-102)cCt>cTt	p.P34L	PPARGC1A_ENST00000507380.1_Missense_Mutation_p.P34L	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	34					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATCAAGTTCAGGAAGATCTGG	0.423000													4	30					0	0	0.00024832	0	0
KCNIP1	30820	broad.mit.edu	37	5	170149737	170149737	+	Silent	SNP	G	G	A	rs147147696	byFrequency	TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:170149737G>A	ENST00000328939.4	+	5	885	c.348G>A	c.(346-348)tcG>tcA	p.S116S	KCNIP1_ENST00000377360.4_Silent_p.S125S|KCNIP1_ENST00000411494.1_Silent_p.S127S|KCNIP1_ENST00000520740.1_Silent_p.S88S|KCNIP1_ENST00000390656.4_Silent_p.S116S|KCNIP1_ENST00000434108.1_Silent_p.S141S	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	127	EF-hand 2.			S -> P (in Ref. 4; BAH13550).	detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.S127S(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCTCTGTCGATTTTATTGA	0.438000													5	42					0	0	0.00116845	0	0
DBX2	440097	broad.mit.edu	37	12	45410180	45410180	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:45410180G>A	ENST00000332700.6	-	4	1080	c.909C>T	c.(907-909)atC>atT	p.I303I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	303						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AACTCTCCTGGATTAGTCTTT	0.483000													10	33					0	0	0.000673444	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131796599	131796599	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:131796599C>T	ENST00000392953.3	+	6	1260	c.741C>T	c.(739-741)ttC>ttT	p.F247F	ARHGEF4_ENST00000355771.3_Silent_p.F176F|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.F247F|ARHGEF4_ENST00000409303.1_Silent_p.F247F|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000525839.1_Silent_p.F247F	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	247	SH3.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CAGCCAGCTTCGTTCGGGTAT	0.577000													5	21					0	0	0.000602214	0	0
OR9A4	130075	broad.mit.edu	37	7	141618810	141618810	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:141618810C>T	ENST00000548136.1	+	1	194	c.135C>T	c.(133-135)atC>atT	p.I45I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CAGTCATCATCATGATTGTCT	0.458000													26	158					0	0	0.000720815	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582746	90582746	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:90582746C>T	ENST00000371930.4	-	6	738	c.528G>A	c.(526-528)cgG>cgA	p.R176R	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	176										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ATTTTAATCTCCGTGCAATAT	0.403000													25	115					0	0	0.000720815	0	0
ORC3	23595	broad.mit.edu	37	6	88321922	88321922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:88321922C>T	ENST00000392844.3	+	8	877	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	ORC3_ENST00000417380.2_Nonsense_Mutation_p.Q224*|ORC3_ENST00000546266.1_Nonsense_Mutation_p.Q134*|ORC3_ENST00000257789.4_Nonsense_Mutation_p.Q277*	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	277					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGAACTGTTCCAATCTTTGTC	0.363000													9	57					0	0	0.000274275	0	0
METTL21C	196541	broad.mit.edu	37	13	103346731	103346731	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:103346731C>T	ENST00000267273.6	-	1	123	c.118G>A	c.(118-120)Gga>Aga	p.G40R		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	40							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TCTAGGACTCCCCCGGTGCTG	0.547000													7	44					0	0	0.000274275	0	0
MYO1C	4641	broad.mit.edu	37	17	1375289	1375289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:1375289G>A	ENST00000359786.5	-	19	2257	c.1933C>T	c.(1933-1935)Cag>Tag	p.Q645*	MYO1C_ENST00000575158.1_Nonsense_Mutation_p.Q610*|MYO1C_ENST00000545534.2_Nonsense_Mutation_p.Q621*|MYO1C_ENST00000438665.2_Nonsense_Mutation_p.Q626*|MYO1C_ENST00000361007.2_Nonsense_Mutation_p.Q610*	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	645	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TACTTCACCTGGTGGCGGATC	0.667000													7	116					0	0	0.000157383	0	0
GJA5	2702	broad.mit.edu	37	1	147230425	147230425	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:147230425G>A	ENST00000271348.2	-	2	1083	c.922C>T	c.(922-924)Cct>Tct	p.P308S	GJA5_ENST00000369237.1_Missense_Mutation_p.P308S|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	308					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCTTCCCCAGGAGTCTGCTCC	0.527000													8	118					0	0	0.000274275	0	0
CLCN3	1182	broad.mit.edu	37	4	170618716	170618716	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:170618716C>T	ENST00000513761.1	+	9	1953	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	CLCN3_ENST00000360642.3_Missense_Mutation_p.P438L|CLCN3_ENST00000347613.4_Missense_Mutation_p.P465L|CLCN3_ENST00000504131.2_Missense_Mutation_p.P448L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	465					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACTGTGGTCCCCTGGAATCC	0.423000													11	80					0	0	0.00010058	0	0
CTCFL	140690	broad.mit.edu	37	20	56093858	56093858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:56093858C>T	ENST00000426658.2	-	4	1676	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.E339K|CTCFL_ENST00000502686.2_Missense_Mutation_p.E77K|CTCFL_ENST00000371196.2_Missense_Mutation_p.E339K|CTCFL_ENST00000433949.2_Missense_Mutation_p.E339K|CTCFL_ENST00000422109.2_Missense_Mutation_p.E339K|CTCFL_ENST00000539382.1_Missense_Mutation_p.E134K|CTCFL_ENST00000432255.2_Missense_Mutation_p.E339K|CTCFL_ENST00000429804.2_Missense_Mutation_p.E339K|CTCFL_ENST00000243914.3_Missense_Mutation_p.E339K|CTCFL_ENST00000422869.2_Missense_Mutation_p.E339K			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	339					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAGGGTTTCTCATGAGTATGT	0.458000													16	131					0	0	0.000566183	0	0
IFT80	57560	broad.mit.edu	37	3	160000378	160000378	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:160000378C>T	ENST00000326448.7	-	14	1836	c.1404G>A	c.(1402-1404)ctG>ctA	p.L468L	IFT80_ENST00000496589.1_Silent_p.L331L|IFT80_ENST00000483465.1_Silent_p.L331L|RP11-432B6.3_ENST00000483754.1_Silent_p.L639L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	468						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTTTTGATCCAGAGCAATTT	0.269000													7	47					0	0	0.000274275	0	0
MYH7B	57644	broad.mit.edu	37	20	33568416	33568416	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr20:33568416C>T	ENST00000262873.7	+	6	596	c.504C>T	c.(502-504)ccC>ccT	p.P168P	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	126	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATCAACCCCTACAAATGGC	0.522000													19	195					0	0	0.000295444	0	0
VPS13B	157680	broad.mit.edu	37	8	100883688	100883688	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:100883688G>C	ENST00000358544.2	+	61	11694	c.11583G>C	c.(11581-11583)caG>caC	p.Q3861H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q3836H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3861					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATGCTTCAGTCTCTGGGCA	0.522000													20	136					0	0	0.000295444	0	0
DMXL1	1657	broad.mit.edu	37	5	118582703	118582703	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:118582703C>T	ENST00000311085.8	+	43	8953	c.8873C>T	c.(8872-8874)tCt>tTt	p.S2958F	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.S2979F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2958										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGGAGTCTCTCTACCTTTGGT	0.428000													9	66					0	0	0.000673444	0	0
GPR63	81491	broad.mit.edu	37	6	97247113	97247113	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:97247113C>T	ENST00000229955.3	-	2	840	c.495G>A	c.(493-495)gtG>gtA	p.V165V	GPR63_ENST00000417980.1_Silent_p.V165V	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	165						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CTCCTTCTATCACAAATAACC	0.408000													6	73					0	0	0.000157383	0	0
SPACA3	124912	broad.mit.edu	37	17	31323938	31323938	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:31323938G>A	ENST00000580599.1	+	4	623	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	SPACA3_ENST00000269053.3_Missense_Mutation_p.G141R|SPACA3_ENST00000394638.1_Missense_Mutation_p.G38R|SPACA3_ENST00000394637.2_3'UTR			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	141					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CACCAACAACGGGATCTTCCA	0.592000													6	86					0	0	8.12818e-05	0	0
CECR2	27443	broad.mit.edu	37	22	18028054	18028054	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:18028054C>T	ENST00000262608.8	+	16	3014	c.3014C>T	c.(3013-3015)cCc>cTc	p.P1005L	CECR2_ENST00000400585.2_Missense_Mutation_p.P862L|CECR2_ENST00000400573.4_Missense_Mutation_p.P1004L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1046					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AATCCCTGGCCCTCGGATAGC	0.602000													5	29					0	0	0.00116845	0	0
MAP3K9	4293	broad.mit.edu	37	14	71227825	71227825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:71227825G>A	ENST00000554752.2	-	3	894	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R36W|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R299W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R299W			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	299	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGCCATTCCCGAGCCAGGCCA	0.507000													7	54					0	0	0.000157383	0	0
MMP3	4314	broad.mit.edu	37	11	102710968	102710968	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:102710968G>A	ENST00000299855.5	-	6	1062	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	269					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S269F(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GGTCTCAGGGGAGTCAGGGGG	0.517000													7	51					0	0	0.000157383	0	0
LNX1	84708	broad.mit.edu	37	4	54374236	54374236	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:54374236T>G	ENST00000306888.2	-	2	502	c.251A>C	c.(250-252)gAc>gCc	p.D84A	LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000511989.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.D180A|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	180						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGCAGGGTTGTCTAGGCCAGG	0.627000													6	33					0	0	8.12818e-05	0	0
PDZD2	23037	broad.mit.edu	37	5	31799732	31799732	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:31799732A>G	ENST00000438447.1	+	2	765	c.377A>G	c.(376-378)aAg>aGg	p.K126R	PDZD2_ENST00000282493.3_Missense_Mutation_p.K126R			O15018	PDZD2_HUMAN	PDZ domain containing 2	126	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGCTGAGGAAGAACAGCCCA	0.587000													13	61					0	0	0.000219431	0	0
TCL6	27004	broad.mit.edu	37	14	96134850	96134850	+	RNA	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr14:96134850G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CTACAGTTTGGAGCCCACATA	0.498000			T	TRA@	T-ALL								10	112					0	0	0.000978159	0	0
LRRN1	57633	broad.mit.edu	37	3	3887642	3887642	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:3887642C>T	ENST00000319331.3	+	2	2078	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	439	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACGTGGATATCGGCACGACGG	0.468000													8	54					0	0	0.000157383	0	0
CR2	1380	broad.mit.edu	37	1	207641876	207641876	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:207641876C>T	ENST00000367057.3	+	3	639	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CR2_ENST00000367059.3_Silent_p.F150F|CR2_ENST00000367058.3_Silent_p.F150F|CR2_ENST00000458541.2_Silent_p.F150F|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	150					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTAAAGTTTTCCCTCTCGAGT	0.463000													15	33					0	0	0.00074312	0	0
IBSP	3381	broad.mit.edu	37	4	88731793	88731793	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:88731793G>A	ENST00000226284.5	+	6	349	c.282G>A	c.(280-282)tcG>tcA	p.S94S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	94	Asp/Glu-rich (acidic).			S -> L (in Ref. 3; AAC37560).	biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ATGAAGAATCGAATGAAGATG	0.403000													13	80					0	0	0.000422831	0	0
CDH12	1010	broad.mit.edu	37	5	22078746	22078746	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:22078746G>A	ENST00000382254.1	-	5	1126	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	CDH12_ENST00000522262.1_Silent_p.L14L|CDH12_ENST00000504376.2_Silent_p.L14L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	14					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L14M(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCATCAAACAGAACCCAGAGA	0.453000										HNSCC(59;0.17)			10	99					0	0	0.000978159	0	0
ACSL6	23305	broad.mit.edu	37	5	131326618	131326618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:131326618G>A	ENST00000379264.2	-	3	421	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	ACSL6_ENST00000357096.1_Nonsense_Mutation_p.Q45*|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.Q105*|ACSL6_ENST00000379240.1_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.Q91*|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.Q45*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.Q80*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.Q45*|ACSL6_ENST00000544770.1_5'UTR	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	80					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAAGTAGCTGAGGGCCAGAC	0.612000													5	52					0	0	0.00116845	0	0
LRG1	116844	broad.mit.edu	37	19	4538663	4538663	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:4538663G>A	ENST00000306390.6	-	2	793	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	111						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCGCAGGAATTCGGGCG	0.652000													5	53					0	0	0.00116845	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64629877	64629877	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:64629877C>T	ENST00000536360.1	-	8	1922	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	370	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ACCCAGTGTTCCACAGGGCTT	0.259000													7	20					0	0	8.12818e-05	0	0
AIM1	202	broad.mit.edu	37	6	106969219	106969219	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:106969219C>T	ENST00000369066.3	+	2	3399	c.2912C>T	c.(2911-2913)tCa>tTa	p.S971L		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	971							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTTATTAAATCAAACTTGCCA	0.363000													9	68					0	0	0.000442599	0	0
PTPRS	5802	broad.mit.edu	37	19	5207951	5207951	+	Silent	SNP	C	C	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:5207951C>A	ENST00000372412.4	-	37	5996	c.5763G>T	c.(5761-5763)ccG>ccT	p.P1921P	PTPRS_ENST00000592099.1_Silent_p.P1473P|PTPRS_ENST00000588012.1_Silent_p.P1882P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.P1920P|PTPRS_ENST00000357368.4_Silent_p.P1920P|PTPRS_ENST00000353284.2_Silent_p.P1473P|PTPRS_ENST00000348075.2_Silent_p.P1882P|PTPRS_ENST00000262963.6_Silent_p.P1900P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1920	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCACCATGGCCGGCCGCTGGG	0.607000													5	116					0.00116845	0.00960186	0.00116845	1	0
ZNF835	90485	broad.mit.edu	37	19	57176174	57176174	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr19:57176174G>A	ENST00000537055.2	-	2	624	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCCGGTGTGGATTCTCTGGT	0.637000													12	39					0	0	0.000422831	0	0
XIRP1	165904	broad.mit.edu	37	3	39226215	39226215	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:39226215G>A	ENST00000340369.3	-	2	4950	c.4722C>T	c.(4720-4722)ttC>ttT	p.F1574F	XIRP1_ENST00000421646.1_Silent_p.F257F|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1574							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGGTCCCTGGAAATGGCCTC	0.587000													19	174					0	0	0.00074312	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349938	21349938	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:21349938C>T	ENST00000256958.2	+	8	882	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	262					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GGCTTAATTTCCTTGTGTCTG	0.363000													8	84					0	0	0.000157383	0	0
ACOXL	55289	broad.mit.edu	37	2	111559251	111559251	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:111559251G>A	ENST00000389811.4	+	8	794	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ACOXL_ENST00000340561.4_Silent_p.G190G|ACOXL_ENST00000439055.1_Silent_p.G190G			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	190					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGACAATGGGATATTAATAT	0.468000													7	84					0	0	0.000442599	0	0
PIWIL3	440822	broad.mit.edu	37	22	25120978	25120978	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr22:25120978C>T	ENST00000332271.5	-	18	2550	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	PIWIL3_ENST00000533313.1_Missense_Mutation_p.E594K|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E594K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	712	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATCGATGATTCGTTTTTACAC	0.418000													5	49					0	0	0.000602214	0	0
FBXW10	10517	broad.mit.edu	37	17	18682422	18682422	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:18682422G>A	ENST00000308799.4	+	12	3216	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V	FBXW10_ENST00000395665.4_Silent_p.V990V|FBXW10_ENST00000395667.1_Silent_p.V989V|FBXW10_ENST00000301938.4_Silent_p.V937V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	990										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGTTGACCGTGAAGGAGGAGA	0.512000													14	89					0	0	0.00074312	0	0
XDH	7498	broad.mit.edu	37	2	31621540	31621540	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:31621540G>A	ENST00000379416.3	-	5	380	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	111					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCCGCACTGGGAGCCGTGGCT	0.557000													14	125					0	0	0.00074312	0	0
ARSH	347527	broad.mit.edu	37	X	2931198	2931198	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:2931198C>A	ENST00000381130.2	+	3	325	c.325C>A	c.(325-327)Cgc>Agc	p.R109S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	109						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCGTGGCTACCGCACGGGACT	0.577000													5	56					0.00116845	0.00960186	0.00116845	1	0
KCNH7	90134	broad.mit.edu	37	2	163393492	163393492	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:163393492C>T	ENST00000332142.5	-	3	505	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	KCNH7_ENST00000328032.4_Missense_Mutation_p.E136K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	136	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCAGCGTTTTCATTATCCGTC	0.383000													11	61					0	0	0.00010058	0	0
RXFP2	122042	broad.mit.edu	37	13	32355829	32355829	+	Silent	SNP	A	A	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr13:32355829A>T	ENST00000298386.2	+	10	878	c.807A>T	c.(805-807)atA>atT	p.I269I	RXFP2_ENST00000380314.1_Silent_p.I269I	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	269						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCAATAGAATAAAGTATCTCA	0.338000													5	43					0	0	0.000602214	0	0
WNK1	65125	broad.mit.edu	37	12	978198	978198	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:978198C>T	ENST00000537687.1	+	9	3949	c.3306C>T	c.(3304-3306)ttC>ttT	p.F1102F	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Silent_p.F1187F|WNK1_ENST00000574564.1_Silent_p.F401F	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	848					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTTCTGTTTCCCCCAAGGAA	0.463000													45	365					0	0	0.000781405	0	0
LRP11	84918	broad.mit.edu	37	6	150164123	150164123	+	Silent	SNP	T	T	C			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr6:150164123T>C	ENST00000239367.2	-	3	914	c.909A>G	c.(907-909)acA>acG	p.T303T	LRP11_ENST00000367368.2_Silent_p.T303T|LRP11_ENST00000546019.1_Silent_p.T48T	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	303	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TCTCACCTCCTGTGGAGTAGG	0.592000													11	58					0	0	0.000151284	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39156007	39156007	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:39156007G>A	ENST00000391587.1	-	1	131	c.99C>T	c.(97-99)ccC>ccT	p.P33P		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	33	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				GGCAGGTGCTGGGCAGGCAGA	0.627000													14	74					0	0	0.000219431	0	0
RP1	6101	broad.mit.edu	37	8	55539962	55539962	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:55539962G>A	ENST00000220676.1	+	4	3668	c.3520G>A	c.(3520-3522)Gag>Aag	p.E1174K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1174					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCTATCACAGAGGAAGCTGA	0.408000													6	57					0	0	0.00116845	0	0
LSG1	55341	broad.mit.edu	37	3	194369449	194369449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:194369449G>A	ENST00000265245.5	-	11	1818	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	502					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GTTGGAGGTCGGTGGGGATCT	0.393000													25	71					0	0	0.000586117	0	0
PTEN	5728	broad.mit.edu	37	10	89692829	89692829	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr10:89692829T>G	ENST00000371953.3	+	5	1670	c.313T>G	c.(313-315)Tgt>Ggt	p.C105G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.C105fs*2(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACCCTTTTGTGAAGATCT	0.378000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			11	56					0	0	0.000151284	0	0
DNAH11	8701	broad.mit.edu	37	7	21805064	21805064	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:21805064C>T	ENST00000328843.6	+	56	9011	c.8980C>T	c.(8980-8982)Cca>Tca	p.P2994S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2987S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2994	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGTTTCTCTCCAGTTGGTCG	0.502000									Kartagener syndrome				14	157					0	0	0.000566183	0	0
ATP10B	23120	broad.mit.edu	37	5	160114835	160114835	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:160114835G>A	ENST00000327245.5	-	5	1093	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	83					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATTCCGGGGCAGGAAGGTG	0.463000													7	111					0	0	0.000274275	0	0
SHANK2	22941	broad.mit.edu	37	11	70333016	70333016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr11:70333016C>T	ENST00000338508.4	-	32	3384	c.3385G>A	c.(3385-3387)Gag>Aag	p.E1129K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E533K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E749K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E532K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	749					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCCCCTCCTCGGGGAACATG	0.677000													10	46					0	0	0.000673444	0	0
HGD	3081	broad.mit.edu	37	3	120352111	120352111	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr3:120352111G>A	ENST00000283871.5	-	13	1530	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	357					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCCCTGGCAGGAACCCACCTT	0.522000													10	152					0	0	0.00010058	0	0
COL9A2	1298	broad.mit.edu	37	1	40775782	40775782	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:40775782C>T	ENST00000372748.3	-	15	889		c.e15+1			NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AAGAGGCTTACCGGTGGCCCA	0.607000													16	102					0	0	0.00121646	0	0
PREX2	80243	broad.mit.edu	37	8	68999972	68999972	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr8:68999972C>T	ENST00000288368.4	+	19	2318	c.2041C>T	c.(2041-2043)Cca>Tca	p.P681S	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	681	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTGAAAATTCCAGATTCAGC	0.428000													17	112					0	0	0.00121646	0	0
ZNF142	7701	broad.mit.edu	37	2	219510929	219510929	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr2:219510929G>A	ENST00000411696.2	-	6	2195	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	ZNF142_ENST00000449707.1_Silent_p.L472L			P52746	ZN142_HUMAN	zinc finger protein 142	472					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)		TGTGCACACGGAGGTAGTGCT	0.522000													12	112					0	0	0.000978159	0	0
TLDC1	57707	broad.mit.edu	37	16	84520567	84520567	+	Silent	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr16:84520567G>A	ENST00000343629.6	-	5	810	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	TLDC1_ENST00000535580.1_Silent_p.L183L	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		ACCACACTCAGGAATATGGCC	0.562000													8	56					0	0	0.000157383	0	0
LPAR4	2846	broad.mit.edu	37	X	78011429	78011429	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:78011429G>A	ENST00000435339.2	+	2	1468	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	LPAR4_ENST00000373301.2_Missense_Mutation_p.D355N	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	355						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GGAAGTGAGTGATCAAACAAC	0.398000													7	16					0	0	8.12818e-05	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128994424	128994424	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr5:128994424G>A	ENST00000274487.4	+	15	2546	c.2401G>A	c.(2401-2403)Gga>Aga	p.G801R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	801	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCACACCAGAGGAGCAGGTAA	0.318000													7	74					0	0	0.000274275	0	0
FAM129A	116496	broad.mit.edu	37	1	184764533	184764533	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:184764533G>A	ENST00000367511.3	-	14	2558	c.2365C>T	c.(2365-2367)Cca>Tca	p.P789S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	789	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTACCTCTGGAAATCCCCCC	0.662000													25	213					0	0	0.000720815	0	0
SYPL1	6856	broad.mit.edu	37	7	105732265	105732265	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:105732265G>A	ENST00000455385.2	-	5	834	c.712C>T	c.(712-714)Cct>Tct	p.P238S	SYPL1_ENST00000470347.1_3'UTR|SYPL1_ENST00000011473.2_Missense_Mutation_p.P256S	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	256					synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ATTCCGGTAGGAGGTGGAATA	0.408000													6	62					0	0	0.000274275	0	0
ANKFN1	162282	broad.mit.edu	37	17	54431343	54431343	+	Silent	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr17:54431343C>T	ENST00000566473.2	+	5	546	c.546C>T	c.(544-546)atC>atT	p.I182I	ANKFN1_ENST00000318698.2_Silent_p.I182I			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	182										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATATTGCCATCATGACCAACA	0.468000													6	28					0	0	8.12818e-05	0	0
CCDC92	80212	broad.mit.edu	37	12	124421898	124421898	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr12:124421898C>T	ENST00000545135.1	-	3	3948	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.E218K|CCDC92_ENST00000238156.3_Missense_Mutation_p.E235K			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	235										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCCACTGGTTCCCGCAAAAGG	0.602000													7	75					0	0	0.000157383	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													7	2	---	---	---	---					
CCDC30	728621	broad.mit.edu	37	1	43002200	43002201	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr1:43002200_43002201delAG	ENST00000428554.2	+	9	1188_1189	c.45_46delAG	c.(43-48)aaagfs	p.KE15fs	CCDC30_ENST00000340612.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000507855.1_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGGTCAAAAGAGAGAGAGAG	0.356													7	79	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2701860	2701861	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr4:2701860_2701861delCT	ENST00000324666.5	+	17	3439_3440	c.3088_3089delCT	c.(3088-3090)cfs	p.L1030fs	FAM193A_ENST00000545951.1_Frame_Shift_Del_p.L1030fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.L1052fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.L1030fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.L1030fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1030										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCATGAGCCACTCTCTTTTTTC	0.574													10	114	---	---	---	---					
AC004901.1	0	broad.mit.edu	37	7	46985191	46985191	+	RNA	DEL	G	G	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr7:46985191delG	ENST00000433337.1	-	0	237																											GTCACACCCTGGAGAGGGGAG	0.537													2	4	---	---	---	---					
SHB	6461	broad.mit.edu	37	9	38068209	38068209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr9:38068209delC	ENST00000377707.3	-	1	999	c.434delG	c.(433-435)gcfs	p.G145fs	SHB_ENST00000377700.4_Frame_Shift_Del_p.G145fs|RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.G145fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	145	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGCCCCCGCGCCCGAGGAGGC	0.781													2	4	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													7	450	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41203517	41203523	+	Frame_Shift_Del	DEL	CTTGCGT	CTTGCGT	-			TCGA-D3-A2J8-06A-11D-A196-08	TCGA-D3-A2J8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bbf44-29e6-415b-9523-150f042977bc	2df6c915-6b31-4158-8bd3-26833e310d39	g.chrX:41203517_41203523delCTTGCGT	ENST00000399959.2	+	10	1745_1751	c.890_896delCTTGCGT	c.(889-897)cgfs	p.PCV297fs	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.PCV281fs|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	297	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AGAGTTCGTCCTTGCGTGGTTTATGGT	0.377										HNSCC(61;0.18)			30	140	---	---	---	---					
